scdo.owl
type: Ontology
version IRI: scdo.owl
dc:LicenseDocument: gpl-3.0.en.html
dc:abstract: Sickle cell disease (SCD) is one of the most common monogenic diseases in humans with multiple phenotypic expressions that can manifest as both acute and chronic complications. Although described more than a century ago, challenges in comprehensive disease management and collaborative research on this disease are compounded by the complex molecular and clinical phenotypes of SCD, environmental and psychosocial factors, limited therapeutic options and ambiguous terminology. This ambiguous terminology has hampered the integration and interoperability of existing SCD knowledge, and SCD research translation. The SCD Ontology (SCDO), which is a community-driven integrative and universal knowledge representation system for SCD, overcomes this issue by providing a controlled vocabulary developed by a group of experts in both SCD and ontology design. SCDO is the first and most comprehensive standardized human- and machine-readable resource that unambiguously represents terminology and concepts about SCD for researchers, patients and clinicians. It is built around the central concept ‘hemoglobinopathy’, allowing inclusion of non-SCD haemoglobinopathies, such as thalassaemias, which may interfere with or influence SCD phenotypic manifestations. This collaboratively developed ontology constitutes a comprehensive knowledge management system and standardized terminology of various SCD-related factors. The SCDO will promote interoperability of different research datasets, facilitate seamless data sharing and collaborations, including meta-analyses within the SCD community, and support the development and curation of data-basing and clinical informatics in SCD.
dc:accessRights: Anyone can access the resource.
dc:accrualMethod: Manually, based on terms in existing ontologies and in collaboration with sickle cell disease (SCD) experts where necessary.
dc:accrualPeriodicity: As necessary. Not currently following a fixed frequency.
dc:accrualPolicy: Terms/classes are added as they are identified as necessary by the sickle cell disease (SCD) community.
dc:audience: Researchers in Hemoglobinopathy and/or sickle cell disease (SCD), SCD patients and clinicians.
dc:available: First draft was made available in BioPortal in May 2017
dc:conformsTo: OBO Foundry standards.
dc:coverage: The field of sickle cell disease (SCD) research and care.
dc:isReferencedBy: https://academic.oup.com/database/article/doi/10.1093/database/baz118/5626537
dc:isReferencedBy: PMC6947307
dc:isReferencedBy: PMC7411326
dc:isReferencedBy: PMC7549008
dc:issued: April 2021
language: English
dc:license: GPL-3.0

definition
type: AnnotationProperty
definition: The official definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions.
description adapted from source: no

imported from
type: AnnotationProperty
definition: For external terms/classes, the ontology from which the term was imported.
description adapted from source: no
property has curation status: metadata complete - requires restrictions and relationships
database cross reference: IAO:0000412

term replaced by
type: AnnotationProperty
definition: Use on obsolete terms, relating the term to another term that can be used as a substitute.
database cross reference: IAO:0100001

curator note
type: AnnotationProperty
definition: An administrative note of use for a curator but of no use for a user.
definition source: IAO_0000232
description adapted from source: no
property has curation status: organizational term
database cross reference: IAO:0000232
hasExactSynonym: editor_notes

definition source
type: AnnotationProperty
definition: A source from where the formal description was derived. This can be in the form of a link to a relevant webpage, the IRI of a term in an existing ontology, a reference to specific literature, etc.
definition source: IAO_0000119
description adapted from source: yes
property has curation status: metadata complete - requires restrictions and relationships
database cross reference: IAO:0000119
preferred label: description source

description adapted from source
type: AnnotationProperty
definition: An assertion of whether or not the term/class description is an adaptation of the description in the description source.
curator note: Requested inclusion of this property into RO. Check details here again after inclusion.
property has curation status: metadata complete - requires restrictions and relationships
creator: SCDO
comment: 'yes' indicates that only the description has been adaptation from the source. 'no' indicates that neither the label nor the description have been adapted from the source. 'only label adapted' indicates that only the label has been adapted from the source but the description is the same as that provided by the source. 'label and description adapted' indicates that both the label and the description have been adapted from the source.
comment: This property is required unless dc:creator is "SCDO".
range: no
range: yes

has age of onset
type: AnnotationProperty
definition: A relation between a disease and the age, developmental stage, or period of life at which the disease or the initial symptoms or manifestations of the disease usually appear in individuals.
curator note: Requested inclusion of this property into RO. Check details here again after inclusion. This property might be better suited as a data property? If as a data property, perhaps there should be a standardised way of inputting age of onset?
property has curation status: metadata complete - requires restrictions and relationships
creator: SCDO

has cross-cultural adaptation
type: AnnotationProperty
definition: A relation between a measure (e.g. a survey) and how the measure has been adapted cross-culturally.
curator note: Requested inclusion of this property into RO. Check details here again after inclusion. Should be restricted to all measure/questionnaire classes.
property has curation status: metadata complete - requires restrictions and relationships
creator: SCDO

has disease stage
type: AnnotationProperty
definition: A relationship between a condition/disease and a description of how the condition/disease is staged/graded.
curator note: Requested inclusion of this property into RO. Check details here again after inclusion.
property has curation status: metadata complete - requires restrictions and relationships
creator: SCDO
comment: Staging provided is disease/phenotype specific.

has protocol
type: AnnotationProperty
definition: A relation between a measurement and a plan specification for obtaining the measurement that has sufficient level of detail and quantitative information to communicate it between investigation agents, so that different investigation agents will reliably be able to independently reproduce the process.
curator note: Requested inclusion of this property into RO. Check details here again after inclusion. To be applied to "Measurement", "Test, Method or Assay", "Therapeutics"
property has curation status: metadata complete - requires restrictions and relationships
creator: SCDO

has recommended procedure
type: AnnotationProperty
definition: A relation between a measure or measurement and the recommended procedure used by the measure or used to obtain the measurement.
curator note: Requested inclusion of this property into RO. Check details here again after inclusion.
property has curation status: metadata complete - requires restrictions and relationships
creator: SCDO

has respondents
type: AnnotationProperty
definition: A relation between a measure (e.g. a survey) and the measure's respondents (people who respond). Respondents can be types or groups of people or people with a specific relationship to the main person of interest in the measure.
curator note: Requested inclusion of this property into RO. Check details here again after inclusion. Should be restricted to all measure/questionnaire classes.
description adapted from source: no
property has curation status: metadata complete - requires restrictions and relationships
creator: SCDO
comment: If the main person of interest responds, "Self" is indicated. If a person other than the main person of interest can respond, "Proxy" is indicated. If the proxy responder has a specific relationship (Family Members; Health Care Provider or Care-giver) to the main person of interest, that relationship should be indicated in brackets after "Proxy", e.g. Proxy (Health Care Provider or Care-giver). If more than one type of proxy responder is relevant, these should be listed and separated by ";", e.g. Proxy (Family Members; Health Care Provider or Care-giver)

has target population
type: AnnotationProperty
definition: A relation between a measure (e.g. a survey) and the population that the measure was designed to target.
curator note: Requested inclusion of this property into RO. Check details here again after inclusion. Should be restricted to all measure/questionnaire classes.
property has curation status: metadata complete - requires restrictions and relationships
creator: SCDO
comment: Possible values used in the SCDO: Healthy Population; Clinic Patients (Children and/or Adults with SCD); Family Members; and/or Health Care Provider

has translations
type: AnnotationProperty
definition: An account of known translations of a measure into other languages (other than English).
curator note: Requested inclusion of this property into RO. Check details here again after inclusion. Should be restricted to all measure/questionnaire classes.
property has curation status: metadata complete - requires restrictions and relationships
creator: SCDO

has_application_toward
type: AnnotationProperty
definition: A relation between a planned process and an objective it can be used to achieve.
curator note: Requested inclusion of this property into RO. Check details here again after inclusion.
curator note: This property is originally an object property.
definition source: http://www.ontobee.org/ontology/ERO
property has curation status: metadata complete - requires restrictions and relationships

is caused by
type: AnnotationProperty
curator note: Eventually to be replaced by "is caused by" object property
property has curation status: metadata incomplete

is characterised by
type: AnnotationProperty
definition: A relationship between a condition (a phenotype or disease) and a description of distinctive characteristics or essential features.
curator note: Requested inclusion of this property into RO. Check details here again after inclusion.
property has curation status: metadata complete - requires restrictions and relationships
creator: SCDO

property has curation status
type: AnnotationProperty
definition: Description inherent in name (not provided by source)
description adapted from source: Only label adapted
property has curation status: organizational term
comment: Used for properties, not classes. For classes, use "has curation status" object property.

selection criteria met
type: AnnotationProperty
definition: A relation between a selected entity and the predefined criteria that were met by the entity and that made it eligible for selection.
curator note: Requested inclusion of this property into RO. Check details here again after inclusion. Should be restricted to all measure/questionnaire classes.
property has curation status: metadata complete - requires restrictions and relationships
creator: SCDO

validated for age ranges
type: AnnotationProperty
definition: A relation between a measure and the age ranges for which the measure has been validated.
curator note: Requested inclusion of this property into RO. Check details here again after inclusion. Should be restricted to all measure/questionnaire classes.
property has curation status: metadata complete - requires restrictions and relationships
creator: SCDO

freely available
type: AnnotationProperty
definition: A relation between a measure (e.g. a survey) and an indication of whether the measure is freely available.
curator note: Requested inclusion of this property into RO. Check details here again after inclusion. Should be restricted to all measure/questionnaire classes.
property has curation status: metadata complete - requires restrictions and relationships
creator: SCDO
comment: 'yes' indicates that the measure is freely available. 'no' indicates that the measure is not freely available.

has slider label
type: AnnotationProperty
definition: Records the slider label used by REDCap for a data element that uses a slider to collect data.
creator: SCDO (Jade Hotchkiss)

curation status - complete
type: AnnotationProperty

curation status - incomplete
type: AnnotationProperty

requires additional code
type: AnnotationProperty
definition: An indication of whether or not a clinical code requires an additional code to be specified with it. Annotation is either "yes", "no" or "if applicable, X", where X is the name of a diagnosis for which a code should be provided if it is applicable.
creator: SCDO (Jade Hotchkiss)
domain: ICD-10-CM Diagnosis Codes

existence in other ontologies
type: AnnotationProperty
definition: An indication of whether a term/class already exists in other ontologies. Only used for term (descriptions) that were not taken directly from an existing ontology.
creator: SCDO (Jade Hotchkiss)
comment: Annotation options: Negligable Not relevant to context of sickle cell Few but definitions not freely available Suggest update to description Suggest update to label None

has answer options text
type: AnnotationProperty
definition: Records the answer options text for input in Redcap for a data element that provides answer options.
creator: SCDO (Jade Hotchkiss)
domain: SCDO_1000474

has field label
type: AnnotationProperty
definition: Records the field label of a data element.
creator: SCDO (Jade Hotchkiss)
domain: SCDO_1000474

has redcap variable
type: AnnotationProperty
definition: Records the variable of the associated data element from a REDCap data capture instrument.
creator: SCDO (Jade Hotchkiss)
domain: SCDO_1000474

in CRF section
type: AnnotationProperty
definition: Records the section of a CRF in which a data element occurs.
creator: SCDO (Jade Hotchkiss)
domain: SCDO_1000474

has calculation equation
type: AnnotationProperty
definition: Records the calculation used to automatically calculate the value for a data element in REDCap.
creator: SCDO (Jade Hotchkiss)
domain: SCDO_1000474

has field note
type: AnnotationProperty
definition: Records a data element's field note (a note provided below the answer field).
creator: SCDO (Jade Hotchkiss)
domain: SCDO_1000474

order in CRF section
type: AnnotationProperty
definition: Records the order in which a data element appears in a specific section of a specific CRF/questionnaire/instrument. This is provided in the form of a number which is relative to the order numbers of other data elements of the section.
creator: SCDO (Jade Hotchkiss)
domain: SCDO_1000474

has sections
type: AnnotationProperty
definition: Used to provide a list of sections present in a questionnaire/instrument.
creator: SCDO (Jade Hotchkiss)
domain: SCDO_1000476

has redcap validation
type: AnnotationProperty
definition: Records the type of validation used for a data element in REDCap.
creator: SCDO (Jade Hotchkiss)

has branching logic
type: AnnotationProperty
definition: Records the branching logic applied to a data element in REDCap.
creator: SCDO (Jade Hotchkiss)
domain: SCDO_1000474

has redcap min number validation
type: AnnotationProperty
definition: Records the mainimum value that is accepted for a data element that has validation applied to it in REDCap.
creator: SCDO (Jade Hotchkiss)
domain: SCDO_1000474

has redcap max number validation
type: AnnotationProperty
definition: Records the maximum value that is accepted for a data element that has validation applied to it in REDCap.
creator: SCDO (Jade Hotchkiss)
domain: SCDO_1000474

has redcap field annotation
type: AnnotationProperty
definition: Records the field annotations of a data element in REDCap.
creator: SCDO (Jade Hotchkiss)
domain: SCDO_1000474

is identifier
type: AnnotationProperty
definition: Used to show if a data element is considered an "identifier" (meaning it contains identifying information).
creator: SCDO (Jade Hotchkiss)
domain: SCDO_1000474

required field
type: AnnotationProperty
definition: Used to show if a data element is a required field. "y" is assigned to it if the data element is a required field.
creator: SCDO (Jade Hotchkiss)
domain: SCDO_1000474

custom alignment
type: AnnotationProperty
definition: Records the custom alignment of a data element in REDCap.
creator: SCDO (Jade Hotchkiss)

has field type
type: AnnotationProperty
definition: Records a data element's field type, as per REDCap.
creator: SCDO (Jade Hotchkiss)
domain: SCDO_1000474

in matrix group
type: AnnotationProperty
definition: Used to record the matrix group that a data element occurs in.
creator: SCDO (Jade Hotchkiss)
domain: SCDO_1000474

autocomplete
type: AnnotationProperty
definition: An indication of whether or not a data element with a dropdown field should be autocompleted. Annotation is either "yes" or "no".
creator: SCDO (Jade Hotchkiss)

show slider
type: AnnotationProperty
definition: An indication of whether or not a data element with a slider field should display the slider's number values. Annotation is either "yes" or "no".
creator: SCDO (Jade Hotchkiss)

previous identifier
type: AnnotationProperty
definition: Used to record the identifier that had been used previously but is no longer in use.
creator: SCDO (Jade Hotchkiss)

abbreviation
type: AnnotationProperty
definition: A shortened form of a word or phrase, in this case a class/term. It consists of a group of letters taken from the word or phrase.
definition source: Abbreviation
description adapted from source: yes
property has curation status: metadata complete - requires restrictions and relationships
sub property of: synonym_type_property

discarded/obsoleted synonym
type: AnnotationProperty
sub property of: synonym_type_property

plural form
type: AnnotationProperty
sub property of: synonym_type_property

layperson term
type: AnnotationProperty
sub property of: synonym_type_property

dc:LicenseDocument
type: AnnotationProperty
definition: A legal document giving official permission to do something with a Resource.
definition source: LicenseDocument
description adapted from source: no
property has curation status: ontology annotation property
preferred label: License Document

dc:abstract
type: AnnotationProperty
definition: A summary of the resource.
definition source: abstract
description adapted from source: no
property has curation status: ontology annotation property
preferred label: Abstract

dc:accessRights
type: AnnotationProperty
definition: Information about who can access the resource or an indication of its security status.
definition source: accessRights
description adapted from source: no
property has curation status: ontology annotation property
preferred label: Access Rights

dc:accrualMethod
type: AnnotationProperty
definition: The method by which items are added to a collection.
definition source: accrualMethod
description adapted from source: no
property has curation status: ontology annotation property
preferred label: Accrual Method

dc:accrualPeriodicity
type: AnnotationProperty
definition: The frequency with which items are added to a collection.
definition source: accrualPeriodicity
description adapted from source: no
property has curation status: ontology annotation property
preferred label: Accrual Periodicity

dc:accrualPolicy
type: AnnotationProperty
definition: The policy governing the addition of items to a collection.
definition source: accrualPolicy
description adapted from source: no
property has curation status: ontology annotation property
preferred label: Accrual Policy

dc:audience
type: AnnotationProperty
definition: A class of entity for whom the resource is intended or useful.
definition source: audience
description adapted from source: no
property has curation status: ontology annotation property
preferred label: Audience

dc:available
type: AnnotationProperty
definition: Date (often a range) that the resource became or will become available.
definition source: available
description adapted from source: no
property has curation status: ontology annotation property
preferred label: Date Available

dc:conformsTo
type: AnnotationProperty
definition: An established standard to which the described resource conforms.
definition source: conformsTo
description adapted from source: no
property has curation status: ontology annotation property
preferred label: Conforms To

dc:coverage
type: AnnotationProperty
definition: The spatial or temporal topic of the resource, the spatial applicability of the resource, or the jurisdiction under which the resource is relevant.
definition source: coverage
description adapted from source: no
property has curation status: ontology annotation property
preferred label: Coverage

dc:creator
type: AnnotationProperty
definition: An entity primarily responsible for making the resource. (This property is used in the SCDO when a term was created by the SCDO Working Group or a curator.) The SCDO uses this especially to apply to term descriptions.
definition source: creator
description adapted from source: no
property has curation status: ready for release
preferred label: Creator

dc:isReferencedBy
type: AnnotationProperty
definition: A related resource that references, cites, or otherwise points to the described resource.
definition source: isReferencedBy
description adapted from source: no
property has curation status: ontology annotation property
preferred label: Is Referenced By

dc:issued
type: AnnotationProperty
definition: Date of formal issuance (e.g., publication) of the resource.
definition source: issued
description adapted from source: no
property has curation status: ontology annotation property
preferred label: Date Issued

dc:language
type: AnnotationProperty
definition: A language of the resource.
definition source: language
description adapted from source: no
property has curation status: ontology annotation property
comment: Recommended best practice is to use a controlled vocabulary such as RFC 4646 [RFC4646].
preferred label: Language

dc:license
type: AnnotationProperty
definition: A legal document giving official permission to do something with the resource.
definition source: license
description adapted from source: no
property has curation status: ontology annotation property
preferred label: License

dc:source
type: AnnotationProperty
definition: A related resource from which the described class/term's annotations are derived.
definition source: source
description adapted from source: yes
property has curation status: pending vetting by the SCDO developers

synonym_type_property
type: AnnotationProperty

hasBroadSynonym
type: AnnotationProperty
definition: An alias in which the alias is broader than the primary class name. Example: cell division is a broad synonym of cytokinesis.
description adapted from source: no
property has curation status: pending vetting by the SCDO developers

database cross reference
type: AnnotationProperty
definition: A database cross-reference. An annotation which directs one to information contained within a database.
definition source: SBO:0000554
property has curation status: metadata complete - requires restrictions and relationships
database cross reference: SBO:0000554
hasExactSynonym: DbXref
hasExactSynonym: Xref
hasExactSynonym: database cross-reference
hasExactSynonym: database_cross_reference
hasExactSynonym: db xref
hasExactSynonym: hasDbXref

hasExactSynonym
type: AnnotationProperty
definition: An alias in which the alias exhibits true synonymy. Example: ornithine cycle is an exact synonym of urea cycle.
description adapted from source: no
property has curation status: pending vetting by the SCDO developers

hasNarrowSynonym
type: AnnotationProperty
definition: An alias in which the alias is narrower than the primary class name. Example: pyrimidine-dimer repair by photolyase is a narrow synonym of photoreactive repair.
description adapted from source: no
property has curation status: pending vetting by the SCDO developers

hasRelatedSynonym
type: AnnotationProperty
definition: An alias in which the alias is related to the primary class name, but not necessarily broader or narrower. Example: cytochrome bc1 complex is a related synonym of ubiquinol-cytochrome-c reductase activity; virulence is a related synonym of pathogenesis.
description adapted from source: no
property has curation status: pending vetting by the SCDO developers

has_synonym_type
type: AnnotationProperty
definition: An annotation property used to further annotate synonym axioms.

rdfs:comment
definition: Additional information describing the class/term.
description adapted from source: yes

rdfs:label
definition: A human-readable name for the class/term.
description adapted from source: yes

rdfs:seeAlso
definition: Further information about the class/term.
description adapted from source: yes

deprecated
definition: The annotation property that indicates that a given entity has been deprecated.

skos:prefLabel
type: AnnotationProperty
definition: A preferred label.
description adapted from source: yes
property has curation status: pending vetting by the SCDO developers

has phenotype
type: ObjectProperty
definition: A relationship that holds between a biological entity and a phenotype. Here a phenotype is construed broadly as any kind of quality of an organism part, a collection of these qualities, or a change in quality or qualities (e.g. abnormally increased temperature). The subject of this relationship can be an organism (where the organism has the phenotype, i.e. the qualities inhere in parts of this organism), a genomic entity such as a gene or genotype (if modifications of the gene or the genotype causes the phenotype), or a condition such as a disease (such that if the condition inheres in an organism, then the organism has the phenotype).
description adapted from source: no
property has curation status: metadata complete - requires restrictions and relationships
database cross reference: RO:0002200

phenotype of
type: ObjectProperty
definition: Inverse of "has phenotype" object property.
curator note: If required later, specify as inverse of "has phenotype" in Protege.
description adapted from source: no
property has curation status: metadata complete - requires restrictions and relationships

has symptom
type: ObjectProperty
sub property of: has phenotype
definition: A relation that holds between a disease or an organism and a phenotype that is a symptom (subjective evidence of disease perceived by the patient).
curator note: Description adapted from RO. Suggest this description be updated in RO.
database cross reference: RO:0002452

causes or contributes to condition
type: ObjectProperty
sub property of: causes or contributes to
definition: A relationship between an entity (e.g. a genotype, genetic variation, chemical, or environmental exposure) and a condition (a phenotype or disease), where the entity has some causal or contributing role that influences the condition.
database cross reference: RO:0003302

causes condition
type: ObjectProperty
sub property of: causes or contributes to
definition: A relationship between an entity (e.g. a genotype, genetic variation, chemical, or environmental exposure) and a condition (a phenotype or disease), where the entity has some causal role for the condition.
database cross reference: RO:0003303
hasExactSynonym: results_in

contributes to frequency of condition
type: ObjectProperty
sub property of: modifies
definition: A relationship between an entity (e.g. a genotype, genetic variation, chemical, or environmental exposure) and a condition (a phenotype or disease), where the entity influences the frequency of the condition in a population.
database cross reference: RO:0003306

ameliorates condition
type: ObjectProperty
sub property of: modifies
definition: A relationship between an entity (e.g. a genotype, genetic variation, chemical, or environmental exposure) and a condition (a phenotype or disease), where the presence of the entity reduces or eliminates some or all aspects of the condition.
database cross reference: RO:0003307

exacerbates condition
type: ObjectProperty
sub property of: modifies
definition: A relationship between an entity (e.g. a chemical, environmental exposure, or some form of genetic variation) and a condition (a phenotype or disease), where the presence of the entity worsens some or all aspects of the condition.
database cross reference: RO:0003309

condition ameliorated by
type: ObjectProperty
sub property of: modified by
definition: A relationship between a condition (a phenotype or disease) and an entity (e.g. a chemical, environmental exposure, or some form of genetic variation) where some or all aspects of the condition are reduced or eliminated by the presence of the entity.
database cross reference: RO:0003310

condition exacerbated by
type: ObjectProperty
sub property of: modified by
definition: A relationship between a condition (a phenotype or disease) and an entity (e.g. a chemical, environmental exposure, or some form of genetic variation) where some or all aspects of the condition are worsened by the presence of the entity.
database cross reference: RO:0003311

age of onset modified by
type: ObjectProperty
sub property of: modified by
definition: A relationship between a phenotype and a disease modifier, where the disease modifier modifies the age of onset of the phenotype. Age of onset is defined as "The age group in which disease manifestations appear." (HPO)
creator: SCDO (Jade Hotchkiss)

has clinical code
type: ObjectProperty
definition: A relationship between a condition (phenotype or disease) and a relevant ICD-10-CM Diagnosis Code.
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

has output measurement
type: ObjectProperty
sub property of: topObjectProperty
definition: A relation between a device (diagnostic device) and the recording of the output (diagnostic measurement) of the device.
creator: SCDO (Jade Hotchkiss)

uses medical device
type: ObjectProperty
sub property of: topObjectProperty
definition: A relation between a process (e.g. a form of therapy) and a medical device, where the medical device is used in the process.
creator: SCDO (Jade Hotchkiss)

caused or contributed to by
type: ObjectProperty
sub property of: topObjectProperty
definition: A relationship between a condition (a phenotype or disease) and an entity (a genotype or genetic variation) where the entity has a causal role for the condition.
creator: SCDO (Jade Hotchkiss)

diagnosed using tool
type: ObjectProperty
definition: A relation between a phenotype that is a diagnosis and a diagnostic tool used in making the diagnosis.
creator: SCDO (Jade Hotchkiss)

treated with
type: ObjectProperty
definition: A relation between a condition (phenotype or disease) and a type of treatment or a specific treatment, where the condition can be treated with the treatment.
curator note: If required later, specify as inverse of "treats".
creator: SCDO (Jade Hotchkiss)

mortality modified by
type: ObjectProperty
sub property of: modified by
definition: A relationship between a phenotype and a disease modifier, where the disease modifier modifies the mortality (due to the phenotype) of the SCD sufferer.
creator: SCDO (Jade Hotchkiss)

temporal pattern modified by
type: ObjectProperty
sub property of: modified by
definition: A relationship between a phenotype and a disease modifier, where the disease modifier modifies the temporal pattern of the phenotype. Temporal pattern is defined as "The speed at which disease manifestations appear and develop." (HPO)
creator: SCDO (Jade Hotchkiss)

has essential measure
type: ObjectProperty
definition: A measure that is critical to the collection of the measure at hand or is necessary for the interpretation of results for the measure at hand. Without such information, the data collected would be incomplete or misleading.
creator: SCDO (Jade Hotchkiss)
comment: Essential measures have been attributed according to information in PhenX.

has mode of inheritance
type: ObjectProperty
definition: A relation between a particular genotype or disorder and the pattern in which the particular genotype or disorder is passed from one generation to the next.
creator: SCDO (Jade Hotchkiss)

modified by
type: ObjectProperty
sub property of: topObjectProperty
definition: A relationship between a condition (phenotype or disease), entity (aspect of quality of life) or process (therapy) and a disease modifier, where the condition, entity or process is modified by the disease modifier in some way.
creator: SCDO (Jade Hotchkiss)

modifies
type: ObjectProperty
sub property of: topObjectProperty
definition: A relationship between a disease modifier and a condition (phenotype or disease), entity (aspect of quality of life) or process (therapy), where the disease modifier modifies the condition, entity or process in some way.
creator: SCDO (Jade Hotchkiss)

treats
type: ObjectProperty
definition: A relation between a type of treatment or a specific treatment and a condition (phenotype or disease), where the type of treatment or specific treatment treat the condition.
curator note: If required later, specify as inverse of "treated with".
creator: SCDO (Jade Hotchkiss)

has diagnostic device
type: ObjectProperty
sub property of: topObjectProperty
definition: A relation between a Diagnostic Tool (test, method, assay, etc.) or the Diagnostic Measurement obtained from such a tool and a specific Diagnostic Device, where the Diagnostic Device is used in the application of the Diagnostic Tool or to obtain the Diagnostic Measurement.
creator: SCDO (Jade Hotchkiss)

has causal genotype
type: ObjectProperty
sub property of: caused or contributed to by
definition: A relation between a condition (hemoglobinopathy) and the genotype that causes the condition.
creator: SCDO (Jade Hotchkiss)

is ICD-10-CM code type
type: ObjectProperty
sub property of: topObjectProperty
domain: ICD-10-CM Diagnosis Codes
range: ICD-10-CM Code Type
definition: An object property that specifies the type of an ICD-10-CM code, whether Billable or Non-Billable.
creator: SCDO (Jade Hotchkiss)

manifestation of
type: ObjectProperty
sub property of: phenotype of
definition: A relationship that holds between a phenotype (i.e. manifestation) and a condition such as a disease (hemoglobinopathy), wherein the phenotype is evidence of the condition.
creator: SCDO (Jade Hotchkiss)

symptom of
type: ObjectProperty
sub property of: phenotype of
definition: A relation between a phenotype that is a symptom (subjective evidence of disease perceived by the patient) and a disease.
creator: SCDO (Jade Hotchkiss)

causes or contributes to
type: ObjectProperty
sub property of: topObjectProperty
definition: A relationship between 'a' and 'b', where 'a' has some causal role for 'b'.
creator: SCDO (Jade Hotchkiss)

contributes to genotype
type: ObjectProperty
sub property of: causes or contributes to
definition: A relationship between an entity (e.g. genetic variation such as mutation or specific allele) and a genotype, where the entity contributes to the genotype.
creator: SCDO (Jade Hotchkiss)

studied in
type: ObjectProperty
sub property of: topObjectProperty
definition: A relation between a condition (Hemoglobinopathy) and a form of research (type of study) that the condition was studied in.
creator: SCDO (Jade Hotchkiss)

associated via
type: ObjectProperty
definition: A relation between a condition (disease or phenotype) and a type of linking association (e.g. age of onset association).
creator: SCDO (Jade Hotchkiss)

obtained via diagnostic tool
type: ObjectProperty
sub property of: topObjectProperty
definition: A relationship between a diagnostic measurement and the diagnostic tool used to produce the measurement.
creator: SCDO (Jade Hotchkiss)

used by diagnostic tool
type: ObjectProperty
sub property of: topObjectProperty
definition: A relationship between a diagnostic device and the diagnostic tool by which the device is used.
creator: SCDO (Jade Hotchkiss)

uses diagnostic device
type: ObjectProperty
sub property of: topObjectProperty
definition: A relation between a diagnostic tool (test, method, assay, etc.) and a diagnostic device, where the diagnostic device is used in the application of the diagnostic tool.
creator: SCDO (Jade Hotchkiss)

output of diagnostic device
type: ObjectProperty
sub property of: topObjectProperty
definition: A relation between a diagnostic measurement and a diagnostic device, where the diagnostic measurement is the output of the diagnostic device.
creator: SCDO (Jade Hotchkiss)

measures
type: ObjectProperty
sub property of: topObjectProperty
definition: A relation between a diagnostic tool and the diagnostic measurement that it measures.
creator: SCDO (Jade Hotchkiss)

has contributing genetic variation
type: ObjectProperty
sub property of: caused or contributed to by
definition: A relation between a genotype and a genetic variation (e.g. mutation or genetic recombination), where the genetic variation contributes to the genotype.
creator: SCDO (Jade Hotchkiss)

induced by
type: ObjectProperty
sub property of: topObjectProperty
definition: A condition (phenotype or disease) or event (adverse event) induced by an entity (e.g. a drug) or activity (e.g. exercise).
curator note: The "developmentally induced by" object property in RO has the alternative term "induced by".
creator: SCDO (Jade Hotchkiss)

caused by
type: ObjectProperty
sub property of: caused or contributed to by
definition: A relationship between a condition (a phenotype or disease) and an entity (e.g. environment) or condition (phenotype or disease) which could be an existing condition or an event, where the entity or second condition has a causal role for the condition being described.
creator: SCDO (Jade Hotchkiss)

has risk factor
type: ObjectProperty
sub property of: topObjectProperty
definition: A relation between a condition (disease or phenotype) and an aspect of an individual's life (personal attribute), behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of the condition.
creator: SCDO (Jade Hotchkiss)

risk factor for
type: ObjectProperty
sub property of: topObjectProperty
definition: A relation between an aspect of an individual's life (personal attribute), behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of a condition and the condition (disease or phenotype) that it increases the likelihood of.
creator: SCDO (Jade Hotchkiss)

has causal or contributing genetic variation
type: ObjectProperty
sub property of: caused or contributed to by
definition: A relation between a condition (disease or phenotype) or an entity (molecular phenotype) and a genetic variation (e.g. mutation or genetic recombination), where the genetic variation has some causal or contributing role that influences the condition or entity.
creator: SCDO (Jade Hotchkiss)

causes or contributes to molecular phenotype
type: ObjectProperty
sub property of: causes or contributes to
definition: A relation between an entity (genotype) and a molecular phenotype, where the entity has some causal or contributing role that influences the molecular phenotype.
creator: SCDO (Jade Hotchkiss)

has manifestation
type: ObjectProperty
sub property of: has phenotype
definition: A relationship that holds between a condition such as a disease (hemoglobinopathy) and a phenotype (i.e. manifestation), where the phenotype is evidence of the condition.
creator: SCDO (Jade Hotchkiss)

diagnosed by
type: ObjectProperty
sub property of: topObjectProperty
definition: A relation between a condition that is a diagnosis and a phenotype used in making the diagnosis.

diagnosed using measurement
type: ObjectProperty
sub property of: topObjectProperty
definition: A relation between an Abnormal Phenotype that is a diagnosis and a Diagnostic Measurement or Diagnostic Device Visual Output used in making the diagnosis.
creator: SCDO (Jade Hotchkiss)

causes molecular phenotype
type: ObjectProperty
sub property of: causes or contributes to
definition: A relation between a genotype and a molecular phenotype, where the genotype has a causal role for the molecular phenotype.
creator: SCDO (Jade Hotchkiss)

has causal molecular phenotype
type: ObjectProperty
sub property of: caused or contributed to by
definition: A relation between a condition (disease such as a Hemoglobinopathy) and a molecular phenotype, where the molecular phenotype is evidence of the condition.
creator: SCDO (Jade Hotchkiss)

is question type
type: ObjectProperty
domain: SCDO_1000474
range: SCDO_1000475
definition: A relationship between a Clinical or Research Assessment Data Element and a Clinical or Research Assessment Question Type.
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

has answer option
type: ObjectProperty
sub property of: topObjectProperty
domain: SCDO_1000474
definition: A relationship between a multiple choice data element and an answer option or a group of answer options that are provided to the respondent by the data element.
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

collects
type: ObjectProperty
sub property of: topObjectProperty
domain: SCDO_1000474
definition: A relationship between a data element and the type of information that is collected by that data element.
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

has answer standard unit
type: ObjectProperty
sub property of: topObjectProperty
domain: SCDO_1000474
range: UO_0000000
definition: A relationship between a data element and the unit of measurement used, as a standard, for the information that is collected by the data element.
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

has possible finding
type: ObjectProperty
sub property of: topObjectProperty
domain: Diagnostic Measurement
range: Abnormal Phenotype
definition: A relationship between a Diagnostic Measurement and a Phenotype, where the Phenotype is a possible finding of the Diagnostic Measurement, depending on the value recorded for the Diagnostic Measurement.
creator: SCDO (Jade Hotchkiss)

diagnosed using finding
type: ObjectProperty
sub property of: topObjectProperty
range: Phenotype
definition: A relationship between an Abnormal Phenotype that is a diagnosis of a condition and a Phenotype that is a finding from a Diagnostic Measurement, where the Phenotype that is a finding is used as evidence to diagnose patients with the Abnormal Phenotype that is a diagnosis.
creator: SCDO (Jade Hotchkiss)

has reference range standard unit
type: ObjectProperty
domain: Diagnostic Measurement
range: UO_0000000
definition: A relationship between a Diagnostic Measurement and the Unit of Measurement used for the values provided by the data properties that specify upper (ULN) or lower (LLN) limit of normal for the Diagnostic Measurement.
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

code requires phenotype
type: ObjectProperty
sub property of: topObjectProperty
definition: A relationship between a clinical code (such as ICD10 code) and a Phenotype, where the code can only be applied in instances where the phenotype is present.
creator: SCDO (Jade Hotchkiss)

in guideline
type: ObjectProperty
definition: A relation between an entity (phenotypic, therapeutic or diagnostic concept) and a guideline or directive.
creator: SCDO (Jade Hotchkiss)

associated with
type: ObjectProperty
sub property of: topObjectProperty
database cross reference: so:associated_with

topObjectProperty
curator note: Add properties that link diagnostic tools or measurements back to phenotypes..."diagnoses" when linked to a diagnosis? "detects" when linked to a phenotype that is a deviation from normal (e.g. an increased level of something).

has LLN
type: DatatypeProperty
sub property of: topDataProperty
type: FunctionalProperty
domain: Diagnostic Measurement
range: decimal
definition: Used to record the lowest value of the range of statistical characteristics that are supposed to represent accepted standard, non-pathological pattern for particular laboratory result or other quantitative parameter.
existence in other ontologies: None
dc:source: NCIT C25555
hasExactSynonym: has lower limit of normal
hasExactSynonym: has lower reference limit

has ULN
type: DatatypeProperty
sub property of: topDataProperty
type: FunctionalProperty
domain: Diagnostic Measurement
range: decimal
definition: Used to record the top value of the range of statistical characteristics that are supposed to represent accepted standard, non-pathological pattern for particular laboratory result or other quantitative parameter.
existence in other ontologies: None
dc:source: NCIT C25706
hasExactSynonym: has upper limit of normal
hasExactSynonym: has upper reference limit

min number of selections allowed
type: DatatypeProperty
type: FunctionalProperty
range: nonNegativeInteger
definition: Records the minimum number of selections that a respondent is allowed to make from a list of multiple answer options provided for a data element.
creator: SCDO (Jade Hotchkiss)

max number of selections allowed
type: DatatypeProperty
type: FunctionalProperty
range: nonNegativeInteger
definition: Records the maximum number of selections that a respondent is allowed to make from a list of multiple answer options provided for a data element.
creator: SCDO (Jade Hotchkiss)

has LLN male
type: DatatypeProperty
sub property of: topDataProperty
type: FunctionalProperty
domain: Diagnostic Measurement
range: decimal
definition: Used to record the lowest value of the range of statistical characteristics that are supposed to represent accepted standard, non-pathological pattern for males for a particular laboratory result or other quantitative parameter.
existence in other ontologies: None
dc:source: NCIT C25555
hasExactSynonym: has lower limit of normal for males

has LLN female
type: DatatypeProperty
sub property of: topDataProperty
type: FunctionalProperty
domain: Diagnostic Measurement
range: decimal
definition: Used to record the lowest value of the range of statistical characteristics that are supposed to represent accepted standard, non-pathological pattern for females for a particular laboratory result or other quantitative parameter.
existence in other ontologies: None
dc:source: NCIT C25555
hasExactSynonym: has lower limit of normal for females

has LLN pediatric
type: DatatypeProperty
sub property of: topDataProperty
type: FunctionalProperty
domain: Diagnostic Measurement
range: decimal
definition: Used to record the lowest value of the range of statistical characteristics that are supposed to represent accepted standard, non-pathological pattern for children for a particular laboratory result or other quantitative parameter.
existence in other ontologies: None
dc:source: NCIT C25555
hasExactSynonym: has lower limit of normal for children

has ULN male
type: DatatypeProperty
sub property of: topDataProperty
type: FunctionalProperty
domain: Diagnostic Measurement
range: decimal
definition: Used to record the top value of the range of statistical characteristics that are supposed to represent accepted standard, non-pathological pattern for males for a particular laboratory result or other quantitative parameter.
existence in other ontologies: None
dc:source: NCIT C25555
hasExactSynonym: has upper limit of normal for males

has ULN female
type: DatatypeProperty
sub property of: topDataProperty
type: FunctionalProperty
domain: Diagnostic Measurement
range: decimal
definition: Used to record the top value of the range of statistical characteristics that are supposed to represent accepted standard, non-pathological pattern for females for a particular laboratory result or other quantitative parameter.
existence in other ontologies: None
dc:source: NCIT C25555
hasExactSynonym: has upper limit of normal for females

has ULN pediatric
type: DatatypeProperty
sub property of: topDataProperty
type: FunctionalProperty
domain: Diagnostic Measurement
range: decimal
definition: Used to record the top value of the range of statistical characteristics that are supposed to represent accepted standard, non-pathological pattern for children for a particular laboratory result or other quantitative parameter.
existence in other ontologies: None
dc:source: NCIT C25555
hasExactSynonym: has upper limit of normal for children

Human Life Cycle Stage
type: Class
subclass of: Association
definition: A spatiotemporal region encompassing some part of the life cycle of an organism.
curator note: See specific stages in the "Human Developmental Stages Ontology"
existence in other ontologies: Sufficient
previous identifier: SCDO:0007384
database cross reference: HsapDv:0000000
hasExactSynonym: Developmental Stage

Age Range Category
type: Class
subclass of: Research Characteristics
definition: An information content entity specifying the upper and lower limit of a range of ages of continuants.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000403
database cross reference: APOLLO_SV:00000241

Erythromycin
type: Class
subclass of: Antibiotic
subclass of: Preventative Therapeutics
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
definition: Erythromycin is a macrolide antibiotic with a 14-carbon ring that has an antimicrobial spectrum similar to or slightly wider than that of penicillin, and is often used for people that have an allergy to penicillins. Erythromycin may possess bacteriocidal activity, particularly at higher concentrations by binding to the 50S subunit of the bacterial 70S rRNA complex, inhibiting peptidyl-tRNA translocation. Thus, protein synthesis and subsequently structure/function processes critical for life or replication are inhibited.
existence in other ontologies: Sufficient
previous identifier: SCDO:0003119
database cross reference: ARO:0000006
hasExactSynonym: Abomacetin
hasExactSynonym: Emgel
hasExactSynonym: Eritromicina
hasExactSynonym: Erymax
hasExactSynonym: Erythrocin
hasExactSynonym: Erythromycin A
hasExactSynonym: Erythromycine
hasExactSynonym: Erythromycinum
hasExactSynonym: N-methylerythromycin A

Penicillin
type: Class
subclass of: Antibiotic
subclass of: Preventative Therapeutics
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Penicillin (sometimes abbreviated PCN) is a beta-lactam antibiotic used in the treatment of bacterial infections caused by susceptible, usually Gram-positive, organisms. It works by inhibiting the synthesis of the peptidoglycan layer of bacterial cell walls. The peptidoglycan layer is important for cell wall structural integrity, especially in Gram-positive organisms.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000880
database cross reference: ARO:0000054
hasExactSynonym: PCN
hasExactSynonym: Penicillins

Amoxycillin
type: Class
subclass of: Penicillin
subclass of: Restriction
  on property: treats
  some values from: Cholelithiasis
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
definition: Amoxicillin is a moderate-spectrum, bacteriolytic, beta-lactam antibiotic used to treat bacterial infections caused by susceptible microorganisms. A derivative of penicillin, it has a wider range of treatment but remains relatively ineffective against Gram-negative bacteria. It is commonly taken with clavulanic acid, a beta-lactamase inhibitor. Like other beta-lactams, amoxicillin interferes with the synthesis of peptidoglycan.
existence in other ontologies: Sufficient
previous identifier: SCDO:0002381
database cross reference: ARO:0000064
hasExactSynonym: AMX
hasExactSynonym: Amolin
hasExactSynonym: Amopenixin
hasExactSynonym: Amoxicilina
hasExactSynonym: Amoxicilline
hasExactSynonym: Amoxicillinum
hasExactSynonym: Clamoxyl
hasExactSynonym: D-Amoxicillin
hasExactSynonym: Moxal

Drug
type: Class
subclass of: Therapeutics
definition: Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances.
curator note: Add sub-class "Iron Chelator" with sub-classes "Deferoxamine" and "Deferiprone" (see wikipedia page for "Beta Thalassemia"...mentions how they're used to treat beta thalassemia major). Also add "Deferoxamine" and "Deferiprone" below "Iron Chelation Therapy".
existence in other ontologies: Sufficient
previous identifier: SCDO:1000200
database cross reference: CHEBI:23888

Non-Steroidal Anti-Inflammatory Drug
type: Class
subclass of: Anti-Inflammatory Agent
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: An anti-inflammatory drug that is not a steroid. In addition to anti-inflammatory actions, non-steroidal anti-inflammatory drugs have analgesic, antipyretic, and platelet-inhibitory actions. They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins.
existence in other ontologies: Sufficient
previous identifier: SCDO:0005809
database cross reference: CHEBI:35475
hasExactSynonym: Non-Steroidal Anti-Inflammatory Agent

Opioid
type: Class
subclass of: Analgesic
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A narcotic or opioid substance, synthetic or semisynthetic agent producing profound analgesia, drowsiness, and changes in mood.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000836
database cross reference: CHEBI:35482
hasExactSynonym: Opioid Analgesic

Antipyretic
type: Class
subclass of: Drug
subclass of: Preventative Therapeutics
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
definition: A drug that prevents or reduces fever by lowering the body temperature from a raised state. An antipyretic will not affect the normal body temperature if one does not have fever. Antipyretics cause the hypothalamus to override an interleukin-induced increase in temperature. The body will then work to lower the temperature and the result is a reduction in fever.
existence in other ontologies: Sufficient
previous identifier: SCDO:0005335
database cross reference: CHEBI:35493
hasExactSynonym: Anti-Pyretic

Gabapentin
type: Class
subclass of: Drug
subclass of: Preventative Therapeutics
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A gamma-amino acid that is cyclohexane substituted at position 1 by aminomethyl and carboxymethyl groups. Used for treatment of neuropathic pain and restless legs syndrome.
existence in other ontologies: Sufficient
previous identifier: SCDO:0007493
database cross reference: CHEBI:42797
hasExactSynonym: 1-(Aminomethyl)cyclohexaneacetic acid
hasExactSynonym: Neurontin

Corticosteroid
type: Class
subclass of: Anti-Inflammatory Agent
definition: A natural or synthetic analogue of the hormones secreted by the adrenal gland.
existence in other ontologies: Sufficient
previous identifier: SCDO:0003901
database cross reference: CHEBI:50858
hasExactSynonym: Corticoides
hasExactSynonym: Corticosteroides
hasExactSynonym: Corticosteroids

Hydromorphone
type: Class
subclass of: Opioid
definition: An opioid analgesic derived from morphine and used mainly as an analgesic. It has a shorter duration of action and is more potent than morphine.
definition source: http://www.drugbank.ca/drugs/DB00327
existence in other ontologies: Sufficient
previous identifier: SCDO:0000577
database cross reference: CHEBI:5790
hasExactSynonym: 3-hydroxy-17-methyl-4,5alpha-epoxymorphinan-6-one

Adjuvant
type: Class
subclass of: Therapeutics
subclass of: Restriction
  on property: modifies
  some values from: Treatment Efficacy
definition: Any pharmacological or immunological agent that modifies the effect of other agents such as drugs or vaccines while having few if any direct effects when given by itself.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000025
database cross reference: CHEBI:60809
hasExactSynonym: Adjuvant Medicine

Methadone
type: Class
subclass of: Opioid
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: A synthetic opioid that is used as the hydrochloride. It is an opioid analgesic that is primarily a mu-opioid agonist. It has actions and uses similar to those of morphine. It also has a depressant action on the cough center and may be given to control intractable cough associated with terminal lung cancer. Methadone is also used as part of the treatment of dependence on opioid drugs, although prolonged use of methadone itself may result in dependence.
definition source: http://www.drugbank.ca/drugs/DB00333
existence in other ontologies: Sufficient
previous identifier: SCDO:0000752
database cross reference: CHEBI:6807
hasExactSynonym: 6-(dimethylamino)-4,4-diphenylheptan-3-one
hasExactSynonym: Physeptone

Metronidazole
type: Class
subclass of: Antibiotic
subclass of: Preventative Therapeutics
subclass of: Restriction
  on property: treats
  some values from: Cholelithiasis
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
definition: A member of the class of imidazoles substituted at C-1, -2 and -5 with 2-hydroxyethyl, nitro and methyl groups respectively. It has activity against anaerobic bacteria and protozoa, and has a radiosensitising effect on hypoxic tumour cells. It may be given by mouth in tablets, or as the benzoate in an oral suspension. The hydrochloride salt can be used in intravenous infusions. Metronidazole is a prodrug and is selective for anaerobic bacteria due to their ability to intracellularly reduce the nitro group of metronidazole to give nitroso-containing intermediates. These can covalently bind to DNA, disrupting its helical structure, inducing DNA strand breaks and inhibiting bacterial nucleic acid synthesis, ultimately resulting in bacterial cell death.
existence in other ontologies: Sufficient
previous identifier: SCDO:0002912
database cross reference: CHEBI:6909
hasExactSynonym: Satric
hasExactSynonym: Trichazol

Oxycodone
type: Class
subclass of: Opioid
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A semisynthetic derivative of codeine that acts as a narcotic analgesic more potent and addicting than codeine.
definition source: http://www.drugbank.ca/drugs/DB00497
existence in other ontologies: Sufficient
previous identifier: SCDO:0000847
database cross reference: CHEBI:7852
hasExactSynonym: 14-hydroxy-3-methoxy-17-methyl-4,5alpha-epoxymorphinan-6-one
hasExactSynonym: Dihydrone
comment: An extended-release (ER) form of oxycodone (Xtampza ER) was approved for the management of daily, around-the-clock pain management in April, 2016.

High-Performance Liquid Chromatography
type: Class
subclass of: Chemical Assay
subclass of: SCDO_1000577
definition: Column chromatography where the mobile phase is a liquid, the stationary phase consists of very small particles and the inlet pressure is relatively high.
curator note: Perhaps change label to "Hemoglobin by High Performance Liquid Chromatography"? See dc:source provided.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000563
dc:source: test
database cross reference: CHMO:0001009
hasExactSynonym: HPLC
hasExactSynonym: High Performance Liquid Chromatography
hasExactSynonym: High Pressure Liquid Chromatography
hasExactSynonym: High-Pressure Liquid Chromatography

Colorimetric Test
type: Class
subclass of: Biochemical Assay
definition: A test which produces colour change in the sample.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000264
database cross reference: CHMO:0002580

Cardiovascular Measurement
type: Class
subclass of: Diagnostic Measurement
definition: Any value resulting from the quantification of a morphological or physiological parameter pertaining to the heart and/or blood vessels.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000186
database cross reference: CMO:0000001

Blood Pressure Measurement
type: Class
subclass of: Cardiovascular Measurement
subclass of: Restriction
  on property: output of diagnostic device
  some values from: Sphygmomanometer
definition: Measurement of the pressure, or force per area, exerted by circulating blood against the walls of the blood vessels. The pressure is dependent on the energy of the heart action, elasticity of the vessel walls and volume and viscosity of the blood.
curator note: There are many more specific sub-classes in the CMO. Are there any we want to include here?
existence in other ontologies: Sufficient
previous identifier: SCDO:0000144
database cross reference: CMO:0000003

Whole Body Morphological Measurement
type: Class
subclass of: Body Morphological Measurement
definition: Morphological measurement involving the entire body of an organism.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001245
database cross reference: CMO:0000011

Body Temperature
type: Class
subclass of: Diagnostic Measurement
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Temperature Measurement Assay
subclass of: Restriction
  on property: has possible finding
  some values from: Increased Body Temperature
subclass of: Restriction
  on property: has possible finding
  some values from: Decreased Body Temperature
definition: The level of heat in an organism.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000151
database cross reference: CMO:0000015

Body Morphological Measurement
type: Class
subclass of: Diagnostic Measurement
definition: Measurement of the structure or forms of the entire body or parts of the body of an organism.
curator note: Include the term "Body Composition" from PhenX? -- -- Any other relevant terms missing as sub-classes here?
existence in other ontologies: Sufficient
previous identifier: SCDO:0000150
database cross reference: CMO:0000021
hasExactSynonym: Anthropometric Measurement
hasExactSynonym: Anthropometrics
hasExactSynonym: Morphometry

Blood Chemistry Measurement
type: Class
subclass of: Blood Measurement
definition: A quantification of a parameter of the chemical composition of blood.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000136
database cross reference: CMO:0000023

Red Blood Cell Count
type: Class
subclass of: Red Blood Cell Measurement
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Complete Blood Count
subclass of: Restriction
  on property: output of diagnostic device
  some values from: Hematology Analyzer
subclass of: Restriction
  on property: has possible finding
  some values from: Increased Red Blood Cell Count
subclass of: Restriction
  on property: has possible finding
  some values from: Decreased Red Blood Cell Count
subclass of: Restriction
  on property: has possible finding
  some values from: SCDO_1000822
definition: The number of red blood cells in a specified volume of blood most commonly 1 cubic millimeter (i.e. 1 microliter) of peripheral venous blood.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000973
database cross reference: CMO:0000025
hasExactSynonym: Erythrocyte Count
hasExactSynonym: Erythrocyte Number
hasExactSynonym: Erythrocyte Numbers
hasExactSynonym: Red Blood Count

White Blood Cell Count
type: Class
subclass of: White Blood Cell Measurement
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Complete Blood Count
subclass of: Restriction
  on property: output of diagnostic device
  some values from: Hematology Analyzer
subclass of: Restriction
  on property: has possible finding
  some values from: Leukopenia
subclass of: Restriction
  on property: has possible finding
  some values from: Leukocytosis
subclass of: Restriction
  on property: has possible finding
  some values from: SCDO_1000823
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: The number of white blood cells in a specified volume of blood.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001243
database cross reference: CMO:0000027
hasExactSynonym: Leukocyte Count
hasExactSynonym: White Corpuscle Count

Platelet Count
type: Class
subclass of: Platelet Measurement
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Complete Blood Count
subclass of: Restriction
  on property: output of diagnostic device
  some values from: Hematology Analyzer
subclass of: Restriction
  on property: has possible finding
  some values from: Thrombocytopenia
subclass of: Restriction
  on property: has possible finding
  some values from: Thrombocytosis
subclass of: Restriction
  on property: has possible finding
  some values from: SCDO_1000824
definition: The number of platelets (thrombocytes) in a specified volume of blood, usually expressed as platelets per cubic millimeter of whole blood.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000906
database cross reference: CMO:0000029
hasExactSynonym: Blood Platelet Number
hasExactSynonym: Blood Platelet count
hasExactSynonym: Platelet Number

Blood Neutrophil Count
type: Class
subclass of: Blood Granulocyte Count
definition: The number of granulocytes categorized as neutrophils in a specified volume of blood. A neutrophil is, or is in the process of becoming, a granular leucocyte having a nucleus with three to five lobes connected by threads of chromatin, cytoplasm containing very fine granules, and which is readily stainable with neutral dyes.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000442
database cross reference: CMO:0000030
hasExactSynonym: Neutrophil Granulocyte Count

Blood Measurement
type: Class
subclass of: Diagnostic Measurement
definition: A measurement of the blood, it's contents, cells or other factors contained within the blood.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000143
database cross reference: CMO:0000035

Blood Cell Measurement
type: Class
subclass of: Blood Measurement
definition: A value resulting from the quantification of a morphological or physiological parameter of blood cells, i.e. cells native to the circulation, including those of erythroid, lymphoid, myeloid and monocytic lineages. A cell is a membrane-enclosed protoplasmic mass constituting the smallest structural unit of an organism that is capable of independent functioning.
curator note: Perhaps include missing sub-classes of "Blood Cell Measurement" from the Clinical Measurement Ontology?
existence in other ontologies: Sufficient
previous identifier: SCDO:0000135
database cross reference: CMO:0000036

Hematocrit
type: Class
subclass of: Red Blood Cell Measurement
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Percentage of total blood volume that is made up of red blood cells.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000503
database cross reference: CMO:0000037
hasExactSynonym: Hct
hasExactSynonym: Packed Cell Volume
hasExactSynonym: Packed Red Blood Cell Volume

Mean Corpuscular Volume
type: Class
subclass of: Red Blood Cell Measurement
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Complete Blood Count
subclass of: Restriction
  on property: has possible finding
  some values from: Increased Mean Corpuscular Volume
subclass of: Restriction
  on property: has possible finding
  some values from: Decreased Mean Corpuscular Volume
subclass of: Restriction
  on property: has possible finding
  some values from: SCDO_1000825
definition: A measure of the average volume or size of a single red blood cell. It is derived by dividing the total volume of packed red blood cells by the total red blood cell count.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000723
database cross reference: CMO:0000038
hasExactSynonym: MCV
hasExactSynonym: Mean Cell Volume

Serum Creatinine Level
type: Class
subclass of: Blood Chemistry Measurement
subclass of: Restriction
  on property: has essential measure
  some values from: Race
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: has essential measure
  some values from: History of Kidney Failure Diagnostic Instrument
subclass of: Restriction
  on property: has essential measure
  some values from: History of Type I and Type 2 Diabetes Diagnostic Instrument
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Creatinine Blood Test
subclass of: Restriction
  on property: has possible finding
  some values from: Decreased Serum Creatinine
subclass of: Restriction
  on property: has possible finding
  some values from: SCDO_1000649
subclass of: Restriction
  on property: has possible finding
  some values from: SCDO_1000829
definition: The amount of creatinine, a catabolic product of creatine phosphate used in skeletal muscle contraction found in a specified volume of serum.
curator note: Link to "Glomerular Filtration Rate"... which object property? Create a new one and suggest to RO? "used to calculate"?
existence in other ontologies: Sufficient
previous identifier: SCDO:0001042
database cross reference: CMO:0000057
hasExactSynonym: Creatinine Level

Respiratory System Measurement
type: Class
subclass of: Diagnostic Measurement
definition: A measurement to assess the morphological or physiological state of the respiratory system or portion of the respiratory system.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000995
database cross reference: CMO:0000094

Blood Granulocyte Count
type: Class
subclass of: Blood Differential White Blood Cell Count
definition: The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000441
database cross reference: CMO:0000111

Blood Bilirubin Level
type: Class
subclass of: Blood Chemistry Measurement
subclass of: Restriction
  on property: has essential measure
  some values from: Ethnic Group
subclass of: Restriction
  on property: has essential measure
  some values from: Race
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Bilirubin Blood Test
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: The amount of bilirubin found in a specific volume of blood.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000134
database cross reference: CMO:0000123
hasExactSynonym: Bilirubin Level

Blood Flow Measurement
type: Class
subclass of: Cardiovascular Measurement
definition: Any measurement of the movement of blood through the heart and blood vessels.
curator note: Add any more from below "circulation measurement" in the CMO? Suggest to CMO "Blood Flow Measurement" be an exact synonym of "Circulation Measurement", as we have made it here. Suggest to CRISP that their "blood flow measurement" instead be "Blood Flow Test".
existence in other ontologies: Sufficient
previous identifier: SCDO:0000142
database cross reference: CMO:0000195
hasExactSynonym: Circulation Measurement

Blood Coagulation Measurement
type: Class
subclass of: Blood Measurement
definition: Measurement to assess the sequential process through which multiple factors of the blood interact to form an insoluble fibrin clot.
curator note: Add other sub-classes of "Blood Coagulation Measurement" from the CMO? blood fibrinogen level? thrombin time? activated clotting time (ACT)? platelet aggregation measurement? bleeding time (BT)?
existence in other ontologies: Sufficient
previous identifier: SCDO:0000137
database cross reference: CMO:0000204

Activated Partial Thromboplastin Time
type: Class
subclass of: Blood Coagulation Measurement
definition: The time needed for plasma to form a fibrin clot after the addition of calcium and a phospholipid reagent. It is used to evaluate the intrinsic clotting system.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000014
database cross reference: CMO:0000210
hasExactSynonym: APTT; Quick

Prothrombin Time
type: Class
subclass of: Blood Coagulation Measurement
definition: Measurement of the clotting ability of fibrinogen, prothrombin, proaccelerin, proconvertin and Stuart factor, usually given in seconds to formation of clot after the addition of a tissue factor or thromboplastin.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000933
database cross reference: CMO:0000211
hasExactSynonym: PTT

Arterial Blood Gas Measurement
type: Class
subclass of: Blood Gas Measurement
definition: Any measurement of a gas or gases dissolved in arterial blood, that is, blood which has absorbed oxygen in the lungs, including oxygen, nitrogen carbon dioxide and/or hydrogen.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000718
database cross reference: CMO:0000225

Urine Measurement
type: Class
subclass of: Diagnostic Measurement
definition: Any measurement of urine, the fluid waste product excreted by the kidneys, or its components.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001214
database cross reference: CMO:0000256

Partial Pressure of Carbon Dioxide
type: Class
subclass of: Arterial Blood Gas Measurement
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Arterial Blood Gas Test
subclass of: Restriction
  on property: has possible finding
  some values from: SCDO_1000839
subclass of: Restriction
  on property: has possible finding
  some values from: SCDO_1000840
subclass of: Restriction
  on property: has possible finding
  some values from: SCDO_1000841
definition: The force per unit area attributable to the carbon dioxide, a colorless, odorless, incombustible gas formed during respiration and composed of one atom of carbon and two atoms of oxygen, dissolved in a specified volume of blood, defined as the force per unit area exerted by carbon dioxide in a mixture of gases in equilibrium with such a sample of blood at the same temperature.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000719
database cross reference: CMO:0000283
hasExactSynonym: PaCO2
hasExactSynonym: Partial Pressure of Blood Carbon Dioxide
hasExactSynonym: Partial Pressure of Blood Carbon Dioxide (Pco2)
hasExactSynonym: Partial Pressure of Carbon Dioxide (PaCO2)
hasExactSynonym: Pco2

Mean Corpuscular Hemoglobin Level
type: Class
subclass of: Red Blood Cell Measurement
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Complete Blood Count
subclass of: Restriction
  on property: has possible finding
  some values from: Increased Mean Corpuscular Hemoglobin
subclass of: Restriction
  on property: has possible finding
  some values from: Decreased Mean Corpuscular Hemoglobin
subclass of: Restriction
  on property: has possible finding
  some values from: SCDO_1000826
definition: The average amount of hemoglobin per red blood cell calculated by dividing the total mass of hemoglobin by the number of red blood cells in a volume of blood.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000722
database cross reference: CMO:0000290
hasExactSynonym: MCH
hasExactSynonym: Mean Cell Hemoglobin
hasExactSynonym: Mean Cell Hemoglobin Level
hasExactSynonym: Mean Corpuscular Haemoglobin
hasExactSynonym: Mean Corpuscular Haemoglobin Level
hasExactSynonym: Mean Corpuscular Hemoglobin

Mean Corpuscular Hemoglobin Concentration
type: Class
subclass of: Red Blood Cell Measurement
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Complete Blood Count
subclass of: Restriction
  on property: has possible finding
  some values from: Decreased Mean Corpuscular Hemoglobin Concentration
subclass of: Restriction
  on property: has possible finding
  some values from: Increased Mean Corpuscular Hemoglobin Concentration
subclass of: Restriction
  on property: has possible finding
  some values from: SCDO_1000827
definition: The amount of hemoglobin in a given volume of packed red blood cells and is often calculated by dividing the hemoglobin concentration by the hematocrit.
curator note: Add the sub-class "mean corpuscular sickle hemoglobin concentration (MCSHC)"? (see https://www.ncbi.nlm.nih.gov/pmc/articles/PMC290884/pdf/jcinvest00309-0076.pdf)
existence in other ontologies: Sufficient
previous identifier: SCDO:0000721
database cross reference: CMO:0000291
hasExactSynonym: MCHC
hasExactSynonym: Mean Cell Hemoglobin Concentration
hasExactSynonym: Mean Corpuscular Haemoglobin Concentration

Complete Blood Count
type: Class
subclass of: Blood Test
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: has essential measure
  some values from: Medication Inventory
subclass of: Restriction
  on property: has essential measure
  some values from: SCDO_1000342
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: The calculation of the cellular elements of the blood, usually including cell counts for white and red blood cells and platelets.
has protocol: CBC J.htm
has protocol: PhenX protocol: Complete Blood Count #220501
existence in other ontologies: Sufficient
previous identifier: SCDO:0000270
database cross reference: CMO:0000364
hasExactSynonym: Blood Cell Count
hasExactSynonym: Blood Cell Number
hasExactSynonym: CBC
hasExactSynonym: FBC
hasExactSynonym: Full Blood Count

Total White Blood Cell Count
type: Class
subclass of: White Blood Cell Count
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: The total number of leukocytes in 1 cubic millimeter of peripheral venous blood.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001163
database cross reference: CMO:0000365

Blood Differential White Blood Cell Count
type: Class
subclass of: White Blood Cell Count
definition: The number of each type of leukocyte present in a specific volume of blood, usually 1 cubic millimeter.
curator note: Perhaps add sub-classes from "Clinical Measurement Ontology"?
existence in other ontologies: Sufficient
previous identifier: SCDO:0000140
database cross reference: CMO:0000366
hasExactSynonym: Blood Differential Leukocyte Count
hasExactSynonym: Blood Differential WBC Count
hasExactSynonym: WBC Differential Count

Total Serum Bilirubin Level
type: Class
subclass of: Blood Bilirubin Level
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Bilirubin Blood Test
subclass of: Restriction
  on property: has possible finding
  some values from: Increased Total Bilirubin
subclass of: Restriction
  on property: has possible finding
  some values from: SCDO_1000835
definition: The complete or entire amount of bilirubin in a specified volume of serum, the clear liquid that separates from blood after it has clotted completely, i.e. blood plasma from which fibrinogen has been removed. Bilirubin is the bile pigment produced by breakdown of heme and reduction of biliverdin.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000500
database cross reference: CMO:0000376

Hemoglobin Concentration
type: Class
subclass of: Hemoglobin Measurement
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Complete Blood Count
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Arterial Blood Gas Test
subclass of: Restriction
  on property: has possible finding
  some values from: Decreased Hemoglobin Concentration
subclass of: Restriction
  on property: has possible finding
  some values from: Increased Hemoglobin Concentration
subclass of: Restriction
  on property: has possible finding
  some values from: SCDO_1000783
definition: The amount of hemoglobin, the red oxygen-carrying pigment of erythrocytes, in a specified volume of blood, as calculated from the optical density of a solution of lysed red cells in which hemoglobin has been converted to cyanomethemoglobin and measured with a spectrophotometer.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000523
database cross reference: CMO:0000506
hasExactSynonym: Hbtotal
hasExactSynonym: Hemoglobin Level
hasExactSynonym: Total Hemoglobin
hasExactSynonym: Total Hemoglobin (Hbtotal)
hasExactSynonym: ctHB

Hemoglobin Absorbance
type: Class
subclass of: Hemoglobin Measurement
definition: The optical density as calculated from the intensity of light at a specified wavelength as it passes through a solution of lysed red blood cells.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000249
database cross reference: CMO:0000507

Hemoglobin Measurement
type: Class
subclass of: Blood Cell Measurement
definition: A measure of the oxygen carrying pigment of erythrocytes.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000543
database cross reference: CMO:0000508

Heart Contraction Pressure
type: Class
subclass of: SCDO_1000317
definition: Pressure exerted by the heart muscle in its maximally contracted state.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000499
database cross reference: CMO:0000665

Platelet Measurement
type: Class
subclass of: Blood Cell Measurement
definition: Any measurement of platelets, the disk-shaped structures found in the blood of mammals which play a vital role in blood coagulation. Platelets lack nuclei and DNA but contain active enzymes and mitochondria.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000907
database cross reference: CMO:0000921

Blood Gas Measurement
type: Class
subclass of: Blood Measurement
definition: Any measurement of a gas or gases dissolved in the blood, including oxygen, nitrogen carbon dioxide and/or hydrogen.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000312
database cross reference: CMO:0001321

Oxygen Saturation
type: Class
subclass of: Blood Gas Measurement
definition: The amount of oxygen bound to hemoglobin in the blood expressed as a percentage of the maximal binding capacity.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000848
database cross reference: CMO:0001324
hasExactSynonym: HbO2
hasExactSynonym: Oxyhemoglobin Saturation
hasExactSynonym: Oxyhemoglobin Saturation (HbO2)
hasExactSynonym: SO2
hasExactSynonym: SaO2
hasExactSynonym: Sats

Red Blood Cell Measurement
type: Class
subclass of: Blood Cell Measurement
definition: Any measurement of a single red blood cell, one of the hemoglobin-containing blood cells that transport oxygen and carbon dioxide to and from the tissues, or of all of the red blood cells in a sample of blood.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000974
database cross reference: CMO:0001356
hasExactSynonym: Erythrocyte Measurement

Birth Weight
type: Class
subclass of: Body Weight
definition: The heaviness or degree to which the entire body of an organism at the point of or shortly after birth is drawn to the earth by gravity.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000311
database cross reference: CMO:0002079
hasExactSynonym: Body Weight of Neonate
hasExactSynonym: Neonatal Body Weight

White Blood Cell Measurement
type: Class
subclass of: Blood Cell Measurement
definition: Any value resulting from the quantification of a morphological or physiological parameter of leukocytes, largely colorless blood corpuscles capable of ameboid movement, whose chief function is to protect the body against microorganisms and other disease-causing entities.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001244
database cross reference: CMO:0002341

Serum Haptoglobin Level
type: Class
subclass of: Blood Chemistry Measurement
subclass of: Restriction
  on property: has essential measure
  some values from: Ethnic Group
subclass of: Restriction
  on property: has essential measure
  some values from: Race
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Haptoglobin Blood Test
definition: Measurement of the amount of haptoglobin in a specified sample of serum, the clear liquid that separates from blood after it has clotted completely, i.e. blood plasma from which fibrinogen has been removed. Haptoglobin is a serum alpha2 globulin glycoprotein, produced by the liver, that functions to bind free plasma hemoglobin, which allows degradative enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000467
database cross reference: CMO:0002520
hasExactSynonym: Haptoglobin Level
hasExactSynonym: Haptoglobin Levels

N-Terminal Pro-Brain Natriuretic Peptide Level
type: Class
subclass of: Blood Chemistry Measurement
subclass of: Restriction
  on property: has essential measure
  some values from: Ethnic Group
subclass of: Restriction
  on property: has essential measure
  some values from: Race
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: N-terminal Pro-brain Natriuretic Peptide Test
definition: The amount of N-terminal (NT)-pro hormone BNP (Nppb) in a specified volume of blood.
curator note: Value given as 1 Decimal Place Nanogram per Liter (according to PhenX https://www.phenxtoolkit.org/protocols/view/810501) associated with acute congestive heart failure (http://www.ebi.ac.uk/efo/EFO_0004745)
existence in other ontologies: Sufficient
previous identifier: SCDO:0000786
database cross reference: CMO:0002876
hasExactSynonym: BNPT Level
hasExactSynonym: Blood NH2-Terminal pro-B-Type Natriuretic Peptide Level
hasExactSynonym: N-Terminal Prohormone of Brain Natriuretic Peptide Level
hasExactSynonym: NT-proBNP Level
hasExactSynonym: NT-proBNP Measurement

Vitamin B12 Deficiency
type: Class
subclass of: SCDO_1000261
definition: A vitamin metabolic disorder that results from low blood levels of vitamin B12.
existence in other ontologies: Sufficient
previous identifier: SCDO:0005733
database cross reference: DOID:0050731
hasExactSynonym: Cobalamin Deficiency
hasExactSynonym: Hypocobalaminemia

Ischemic Cholitis
type: Class
subclass of: Abnormality of the Digestive System
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
definition: A colitis caused by inadequate blood supply to the colon.
curator note: Is diagnosed by: abdominal computed tomography scan
existence in other ontologies: Sufficient
previous identifier: SCDO:0002870
database cross reference: DOID:0060181

African Iron Overload
type: Class
subclass of: SCDO_1000281
definition: A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000282
database cross reference: DOID:0111033
hasExactSynonym: Bantu Siderosis
hasExactSynonym: Iron Overload in Africa

Mononeuropathy
type: Class
subclass of: Abnormal Nervous System Morphology
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Magnetic Resonance Imaging
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Personal Medical History
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Radiography
subclass of: Restriction
  on property: treated with
  some values from: Occupational Therapy
subclass of: Restriction
  on property: treated with
  some values from: Physiotherapy
subclass of: Restriction
  on property: treated with
  some values from: Surgery
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
definition: A neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000769
database cross reference: DOID:1188
hasExactSynonym: Single Damaged Nerve

Acute Chest Syndrome
type: Class
subclass of: Abnormality of the Respiratory System
subclass of: Acute Phenotype
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Personal Medical History
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Chest X-Ray
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Physical Examination
subclass of: Restriction
  on property: treated with
  some values from: Gene Therapy
subclass of: Restriction
  on property: treated with
  some values from: Antibiotic
subclass of: Restriction
  on property: treated with
  some values from: Blood Transfusion
subclass of: Restriction
  on property: treated with
  some values from: Hematopoietic Stem Cell Transplantation
subclass of: Restriction
  on property: treated with
  some values from: Hydration Therapy
subclass of: Restriction
  on property: treated with
  some values from: Hydroxyurea
subclass of: Restriction
  on property: treated with
  some values from: Physiotherapy
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion.
curator note: This definition was given by the WG: 'Acute onset of respiratory symptoms and/or signs and an X-ray consistent with alveolar consolidation but not atelectasis, involving at least one complete lung segment." With this definition source:The acute chest syndrome in sickle cell disease: incidence and risk factors. The Cooperative Study of Sickle Cell Disease. O. Castro, D. J. Brambilla, B. Thorington, C. A. Reindorf, R. B. Scott, P. Gillette, J. C. Vera, P. S. Levy Blood. 1994 Jul 15; 84(2): 643–649. However, the definition did not seem to come from this source, so the DO term was used instead.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000015
database cross reference: DOID:1584
hasExactSynonym: Acute Chest Syndrome in Sickle Cell Disease
comment: From the DO: The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.

Epilepsy
type: Class
subclass of: Behavioural Abnormality
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.
existence in other ontologies: Sufficient
previous identifier: SCDO:0008484
database cross reference: DOID:1826

Gastroenteritis
type: Class
subclass of: Infection
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen.
existence in other ontologies: Sufficient
previous identifier: SCDO:0007198
database cross reference: DOID:2326

Disease
type: Class
subclass of: SCDO
subclass of: Restriction
  on property: modifies
  some values from: Quality of Life
definition: A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001365
database cross reference: DOID:4

Septic Arthritis
type: Class
subclass of: Abnormality of the Skeletal System
subclass of: Infection
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
definition: An arthritis that involves infection by a pathogen located in a joint.
existence in other ontologies: Sufficient
previous identifier: SCDO:0002067
database cross reference: DOID:813
hasExactSynonym: Infected Joint
hasExactSynonym: Infectious Arthritis

Central Sleep Apnea
type: Class
subclass of: Behavioural Abnormality
definition: A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000200
database cross reference: DOID:9220
hasExactSynonym: Primary Central Sleep Apnea

Xylometazoline
type: Class
subclass of: Nasal Decongestants
definition: A nasal vasoconstricting decongestant drug which acts by binding to the same receptors as adrenaline. It is applied as a spray or as drops into the nose to ease inflammation and congestion of the nasal passageways. It binds alpha-adrenergic receptors to activate the adrenal system which causes systemic vasoconstriction, thereby easing nasal congestion.
definition source: http://www.drugbank.ca/drugs/DB06694
existence in other ontologies: Sufficient
previous identifier: SCDO:0001254
database cross reference: DRON:00017565
hasExactSynonym: Balminil
hasExactSynonym: Otrivin
hasExactSynonym: Xylomethazoline

Not for Profit Use Only
type: Class
subclass of: SCDO_1000408
definition: This requirement indicates that use of the data is limited to not-for-profit organizations and not-for-profit use, non-commercial use.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000413
database cross reference: DUO:0000018

Publication Required
type: Class
subclass of: SCDO_1000408
definition: This requirement indicates that requestor agrees to make results of studies using the data available to the larger scientific community.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000416
database cross reference: DUO:0000019

Collaboration Required
type: Class
subclass of: SCDO_1000408
definition: This could be coupled with a string describing the primary study investigator(s).
existence in other ontologies: Sufficient
previous identifier: SCDO:1000409
database cross reference: DUO:0000020

Ethics Approval Required
type: Class
subclass of: SCDO_1000408
definition: This requirement indicates that the requestor must provide documentation of local IRB/ERB approval.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000410
database cross reference: DUO:0000021

Geographical Restriction
type: Class
subclass of: SCDO_1000408
definition: This should be coupled with an ontology term describing the geographical location the restriction applies to.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000411
database cross reference: DUO:0000022

Publication Moratorium
type: Class
subclass of: SCDO_1000408
definition: This should be coupled with a date specified as ISO8601
existence in other ontologies: Sufficient
previous identifier: SCDO:1000415
database cross reference: DUO:0000024

Time Limit on Use
type: Class
subclass of: SCDO_1000408
definition: This should be coupled with an integer value indicating the number of months.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000418
database cross reference: DUO:0000025

User Specific Restriction
type: Class
subclass of: SCDO_1000408
definition: This requirement indicates that use is limited to use by approved users.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000419
database cross reference: DUO:0000026

Project Specific Restriction
type: Class
subclass of: SCDO_1000408
definition: This requirement indicates that use is limited to use within an approved project.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000414
database cross reference: DUO:0000027

Institution Specific Restriction
type: Class
subclass of: SCDO_1000408
definition: This requirement indicates that use is limited to use within an approved institution.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000412
database cross reference: DUO:0000028

Return to Database or Resource
type: Class
subclass of: SCDO_1000408
definition: This requirement indicates that the requestor must return derived/enriched data to the database/resource.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000417
database cross reference: DUO:0000029

Pollution
type: Class
subclass of: Physical Environment
definition: An environmental system process that results in the introduction of contaminants into an environment.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000912
database cross reference: ENVO:02500036
hasExactSynonym: Environmental Pollution

Alpha Thalassemia Genotype
type: Class
subclass of: Genotype
subclass of: Restriction
  on property: causes condition
  some values from: Hemoglobin H Disease
subclass of: Restriction
  on property: causes condition
  some values from: Alpha Thalassemia Trait
subclass of: Restriction
  on property: causes condition
  some values from: Alpha Thalassemia
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: SCDO_1000240
definition: A genotype information which is about the presence and degree of alpha-thalassemia, a form of thalassemia involving the number of functional HBA1 and HBA2 genes.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000216
database cross reference: EUPATH:0000034

Routine Clinical Visit
type: Class
subclass of: Subject Visit Type
definition: A clinical visit that is primarily for a regular examination.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000848
database cross reference: EUPATH:0000050

Severe Anemia
type: Class
subclass of: Anemia
subclass of: Restriction
  on property: treated with
  some values from: Gene Therapy
subclass of: Restriction
  on property: treated with
  some values from: Antibiotic
subclass of: Restriction
  on property: treated with
  some values from: Blood Transfusion
subclass of: Restriction
  on property: treated with
  some values from: Hematopoietic Stem Cell Transplantation
subclass of: Restriction
  on property: treated with
  some values from: Hydroxyurea
subclass of: Restriction
  on property: treated with
  some values from: Morphine
subclass of: Restriction
  on property: treated with
  some values from: Folic Acid
subclass of: Restriction
  on property: treated with
  some values from: Iron Chelation Therapy
definition: An anemia with hemoglobin levels less than 5 gm/dL.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000055
database cross reference: EUPATH:0000215

Information on Observation Details
type: Class
subclass of: Research
definition: An information content entity that is about a clinical visit.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000851
database cross reference: EUPATH:0000310

Blood Urea Concentration
type: Class
subclass of: Blood Chemistry Measurement
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: SCDO_1000605
definition: A scalar measurement datum of the concentration of urea in blood that is a specified output of a blood test.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000603
database cross reference: EUPATH:0021227
hasExactSynonym: Serum Urea Concentration

Occupation
type: Class
subclass of: Personal Attribute
subclass of: Socioeconomic Factors
subclass of: Quality of Life Related Personal Attribute
definition: An individual attribute that is the usual or principal work or business of an individual.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000821
database cross reference: ExO:0000034
hasExactSynonym: Career
hasExactSynonym: Employment
hasExactSynonym: Job
hasExactSynonym: Vocation

Built Environment
type: Class
subclass of: Physical Environment
definition: Human-made surroundings that provide the setting for human activity, ranging in scale from personal shelter and buildings to neighborhoods and cite, and can often include their supporting infrastructure, such as water supply or energy networks.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000167
database cross reference: ExO:0000048

Geographic Location
type: Class
subclass of: Physical Environment
definition: A reference to a place on the Earth, by its name or by its geographical location.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000451
database cross reference: GAZ:00000448
hasExactSynonym: Geographic Region

Intersex
type: Class
subclass of: Clinical or Research Assessment Answer
definition: Intersex is an umbrella term with a complex history. It is usually used to refer to persons with congenital conditions which involve differences in the many intertwined processes of sexual development.
definition source: GSSO_000109
existence in other ontologies: Sufficient
previous identifier: SCDO:1000672
database cross reference: GSSO:000109

Ethical Principle
type: Class
subclass of: SCDO_1000430
definition: Principles which provide a framework within which ethical dilemmas and other problems may be analyzed.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000427
database cross reference: GSSO:003239

Mode of Inheritance
type: Class
subclass of: SCDO
definition: The pattern in which a particular genetic trait or disorder is passed from one generation to the next.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001367
database cross reference: HP:0000005
hasExactSynonym: Inheritance

Autosomal Dominant
type: Class
subclass of: Mode of Inheritance
definition: A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000140
database cross reference: HP:0000006
hasExactSynonym: Autosomal Dominant Form
hasExactSynonym: Autosomal Dominant Inheritance
hasExactSynonym: Autosomal Dominant Predisposition

Autosomal Recessive
type: Class
subclass of: Mode of Inheritance
definition: A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygous (two copies of the same mutant allele) or compound heterozygous (whereby each copy of a gene has a distinct mutant allele).
existence in other ontologies: Sufficient
previous identifier: SCDO:0001368
database cross reference: HP:0000007
hasExactSynonym: Autosomal Recessive Form
hasExactSynonym: Autosomal Recessive Inheritance
hasExactSynonym: Autosomal Recessive Predisposition

Azoospermia
type: Class
subclass of: Abnormality of Reproductive System Physiology
definition: Absence of any measurable level of sperm in a male's semen.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000092
database cross reference: HP:0000027
hasExactSynonym: Absent Sperm in Semen

Hypogonadotropic Hypogonadism
type: Class
subclass of: Abnormality of Reproductive System Physiology
definition: Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).
existence in other ontologies: Sufficient
previous identifier: SCDO:0002903
database cross reference: HP:0000044
hasExactSynonym: Hypogonadotropic Hypogonadism
hasExactSynonym: Secondary Hypogonadism

Abnormality of the Kidney
type: Class
subclass of: Abnormality of the Urinary System
definition: An abnormality of the kidney.
existence in other ontologies: Sufficient
previous identifier: SCDO:0002133
database cross reference: HP:0000077
hasExactSynonym: Abnormal Kidney
hasExactSynonym: Anomaly of the Kidney
hasExactSynonym: Renal Anomaly

Abnormality of the Genital System
type: Class
subclass of: Abnormal Phenotype
definition: An abnormality of the genital system.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000263
database cross reference: HP:0000078
hasExactSynonym: Genital Abnormalities
hasExactSynonym: Genital Abnormality
hasExactSynonym: Genital Anomalies
hasExactSynonym: Genital Defects

Abnormality of the Urinary System
type: Class
subclass of: Abnormal Phenotype
definition: An abnormality of the urinary system.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001347
database cross reference: HP:0000079
hasExactSynonym: Anomaly of the Urinary System
hasExactSynonym: Urinary Tract Abnormalities
hasExactSynonym: Urinary Tract Abnormality
hasExactSynonym: Urinary Tract Anomalies
hasExactSynonym: Urinary Tract Anomaly

Abnormality of Reproductive System Physiology
type: Class
subclass of: Abnormality of the Genital System
definition: An abnormal functionality of the genital system.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000270
database cross reference: HP:0000080
hasExactSynonym: Abnormality of Genital Physiology

Kidney Failure
type: Class
subclass of: Abnormality of the Kidney
subclass of: SCDO_1000383
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Urine Test
subclass of: Restriction
  on property: treated with
  some values from: Renal Replacement Therapy
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Serum Creatinine Level
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urine Albumin Excretion Rate
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Failure of the kidneys to adequately filter toxins and waste products from the blood; classified as acute (as in acute kidney injury) or chronic (as in chronic kidney disease); a number of other diseases or health problems may cause either form of renal failure to occur.
definition source: http://purl.obolibrary.org/obo/MP_0003606
has age of onset: Variable
has disease stage: May be Acute (acute kidney injury) or chronic (chronic kidney disease).
is caused by: Has a variety of causes - dependent upon acuity - see definitions for acute kidney injury (acute renal failure) and chronic kidney disease.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000674
database cross reference: HP:0000084
hasExactSynonym: Renal Failure
hasExactSynonym: Renal Insufficiency
comment: Treatment is dependent upon etiology and acuity. If refractory to medical therapy, renal replacement or dialysis may be indicated.

Glomerulosclerosis
type: Class
subclass of: Abnormality of the Kidney
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Scarring and fibrosis within the glomerulus.
is caused by: Any form of injury to the kidney can lead to glomerulosclerosis.
is characterised by: Histologically noted by scarring and fibrosis in the glomerulus.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000460
dc:source: NHLBI 2014 Guidelines
database cross reference: HP:0000096
hasExactSynonym: Glomerular Sclerosis
hasExactSynonym: Renal Glomerular Fibrosis

Focal Segmental Glomerulosclerosis
type: Class
subclass of: Glomerulosclerosis
definition: Segmental accumulation of scar tissue in individual (but not all) glomeruli.
existence in other ontologies: Sufficient
previous identifier: SCDO:0009968
database cross reference: HP:0000097
hasExactSynonym: Focal Glomerulosclerosis
hasExactSynonym: Focal and Segmental Glomerular Sclerosis
hasExactSynonym: Focal and Segmental Glomerulosclerosis

Glomerulonephritis
type: Class
subclass of: Nephritis
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: diagnosed by
  some values from: Hematuria
subclass of: Restriction
  on property: diagnosed by
  some values from: Proteinuria
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Inflammation of the renal glomeruli.
curator note: Provide source for additional info.
has age of onset: May occur at any age.
is caused by: Variety of causes - in sickle cell disease, most common lesion is focal segmental glomerulosclerosis (FSGS) but also reported Membranoproliferative glomerulonephritis and other forms of glomerulonephritis.
is characterised by: Patients with hematuria may have dark-colored urine. Glomerulonephritis may lead to the proteinuria and "foamy" appearance of the urine. If the latter is substantial, patients may develop clinically evident edema.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000458
database cross reference: HP:0000099
hasExactSynonym: GN
hasExactSynonym: Glomerular Nephritis

Nephropathy
type: Class
subclass of: Abnormality of the Kidney
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Urine Test
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Urinary Albumin Test
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Urinary Creatinine Test
subclass of: Restriction
  on property: treated with
  some values from: Angiotensin-Converting Enzyme Inhibitors
subclass of: Restriction
  on property: treated with
  some values from: Blood Transfusion
subclass of: Restriction
  on property: treated with
  some values from: Hydroxyurea
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Serum Creatinine Level
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urine Albumin Concentration
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urine Creatinine Concentration
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: A nonspecific term referring to disease or damage of the kidneys.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000795
database cross reference: HP:0000112
hasExactSynonym: Kidney Damage
hasExactSynonym: Kidney Disease

Abnormal Phenotype
type: Class
subclass of: Phenotype
definition: A phenotype that shows detectable differences from normal.
definition source: http://purl.obolibrary.org/obo/FYPO_0001985
existence in other ontologies: Sufficient
previous identifier: SCDO:0009818
database cross reference: HP:0000118
hasExactSynonym: Phenotypic Abnormality

Nephritis
type: Class
subclass of: Abnormality of the Kidney
subclass of: Abnormality of the Immune System
subclass of: SCDO_1000383
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Urine Test
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
definition: The presence of inflammation affecting the kidney.
curator note: Provide source for additional info.
is caused by: May be caused by autoimmune disease, allergic responses, toxic injury, infectious causes.
is characterised by: May be associated with loss of kidney function, pyuria or hematuria, and proteinuria dependent upon cause.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000793
database cross reference: HP:0000123
hasExactSynonym: Kidney Inflammation

Menorrhagia
type: Class
subclass of: Abnormal Reproductive System Morphology
subclass of: Restriction
  on property: treated with
  some values from: Antibiotic
subclass of: Restriction
  on property: treated with
  some values from: Anti-Inflammatory Agent
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
definition: Prolonged and/or excessive menses at regular intervals in excess of 80 ml or lasting longer than 7 days.
curator note: Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000745
database cross reference: HP:0000132
hasExactSynonym: Abnormally Heavy Bleeding During Menstruation
hasExactSynonym: Hypermenorrhea

Gingival Bleeding
type: Class
subclass of: Abnormality of the Face
definition: Hemorrhage affecting the gingiva.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000452
database cross reference: HP:0000225
hasExactSynonym: Bleeding Gums
hasExactSynonym: Gingival Hemorrhage
hasExactSynonym: Gingivorrhagia

Abnormality of the Face
type: Class
subclass of: Abnormal Phenotype
definition: An abnormality of the face.
existence in other ontologies: Sufficient
previous identifier: SCDO:0003024
database cross reference: HP:0000271
hasExactSynonym: Facial Abnormality

Otitis Media
type: Class
subclass of: Abnormality of the Immune System
subclass of: Infection
subclass of: Restriction
  on property: treated with
  some values from: Antifungal
subclass of: Restriction
  on property: treated with
  some values from: Antibiotic
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
definition: Inflammation or infection of the middle ear.
curator note: Source needed for additional information.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000846
database cross reference: HP:0000388
comment: is caused by: Usually bacterial but can be caused by fungus or virus infection. is characterised by: Pain or discharge from one or both ears

Abnormality of the Eye
type: Class
subclass of: Abnormal Phenotype
definition: Any abnormality of the eye, including location, spacing, and intraocular abnormalities.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000294
database cross reference: HP:0000478

Visual Impairment
type: Class
subclass of: Abnormality of the Eye
subclass of: Ophthalmologic Complication
definition: Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000022
database cross reference: HP:0000505
hasExactSynonym: Impaired Vision
hasExactSynonym: Impaired Visual Function
hasExactSynonym: Loss of Eyesight
hasExactSynonym: Poor Vision

Blindness
type: Class
subclass of: Visual Impairment
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degress in radius around central fixation.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000021
database cross reference: HP:0000618
hasExactSynonym: Total Vision Loss

Abnormality of the Nervous System
type: Class
subclass of: Abnormal Phenotype
definition: Any abnormality of the nervous system.
existence in other ontologies: Sufficient
previous identifier: SCDO:0009698
database cross reference: HP:0000707
hasExactSynonym: Brain and/or Spinal Cord Issue
hasExactSynonym: Neurologic Abnormalities
hasExactSynonym: Neurological Abnormality

Behavioural Abnormality
type: Class
subclass of: Abnormal Nervous System Physiology
definition: An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
curator note: Include "Poor School Performance" as a sub-class.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000105
database cross reference: HP:0000708
hasExactSynonym: Behavioral Abnormality
hasExactSynonym: Behavioural Abnormality
hasExactSynonym: Behavioural Changes
hasExactSynonym: Behavioural Disorders
hasExactSynonym: Behavioural Disturbances
hasExactSynonym: Behavioural Problems
hasExactSynonym: Behavioural Symptoms
hasExactSynonym: Behavioural/Psychiatric Abnormalities
hasExactSynonym: Behavioural/Psychiatric Abnormality
hasExactSynonym: Psychiatric Disorders
hasExactSynonym: Psychiatric Disturbances

Dementia
type: Class
subclass of: Abnormal Nervous System Physiology
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Personal Medical History
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Physical Examination
definition: A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
curator note: Check and show which source was used for the description and whether the description was adapted from the source. -- Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000345
database cross reference: HP:0000726
hasExactSynonym: Dementia, Progressive
hasExactSynonym: Progressive Dementia

Sensory Neuropathy
type: Class
subclass of: Peripheral Neuropathy
definition: Peripheral neuropathy affecting the sensory nerves.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001038
database cross reference: HP:0000763
hasExactSynonym: Peripheral Sensory Neuropathy

Infertility
type: Class
subclass of: Abnormality of Reproductive System Physiology
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: Inability to produce live offspring.
definition source: MP_0001924
existence in other ontologies: Sufficient
previous identifier: SCDO:0000639
database cross reference: HP:0000789
hasExactSynonym: Sterility

Oligospermia
type: Class
subclass of: Abnormality of Reproductive System Physiology
definition: Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000827
database cross reference: HP:0000798
hasExactSynonym: Low Sperm Count

Enuresis
type: Class
subclass of: Abnormality of the Urinary System
subclass of: Quality of Life Related SCD Symptoms and Complications
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
definition: Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000434
database cross reference: HP:0000805

Hypergonadotropic Hypogonadism
type: Class
subclass of: Abnormality of Reproductive System Physiology
subclass of: Restriction
  on property: treated with
  some values from: Surgery
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
definition: Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.
curator note: Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000586
database cross reference: HP:0000815
hasExactSynonym: Hypergonadotrophic Hypogonadism
hasExactSynonym: Primary Hypogonadism

Abnormality of the Endocrine System
type: Class
subclass of: Abnormal Phenotype
definition: An abnormality of the endocrine system.
existence in other ontologies: Sufficient
previous identifier: SCDO:0002780
database cross reference: HP:0000818

Diabetes Mellitus
type: Class
subclass of: Abnormality of the Endocrine System
subclass of: Abnormal Glucose Homeostasis
subclass of: Comorbid Disease
subclass of: Restriction
  on property: treated with
  some values from: Lifestyle Therapy
subclass of: Restriction
  on property: treated with
  some values from: Healthy Diet
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A group of abnormalities characterized by hyperglycemia and glucose intolerance.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000367
database cross reference: HP:0000819

Abnormality of the Thyroid Gland
type: Class
subclass of: Abnormality of the Endocrine System
definition: An abnormality of the thyroid gland.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000278
database cross reference: HP:0000820
hasExactSynonym: Thyroid Abnormality

Hypothyroidism
type: Class
subclass of: Abnormality of the Thyroid Gland
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Deficiency of thyroid hormone.
curator note: Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000603
database cross reference: HP:0000821
hasExactSynonym: Low T4
hasExactSynonym: Underactive Thyroid

Hypertension
type: Class
subclass of: Abnormal Cardiovascular System Physiology
definition: The presence of chronic increased pressure in the systemic arterial system.
existence in other ontologies: Sufficient
previous identifier: SCDO:0008801
database cross reference: HP:0000822

Delayed Puberty
type: Class
subclass of: Abnormality of the Endocrine System
subclass of: Growth Abnormality
subclass of: Quality of Life Related SCD Symptoms and Complications
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
definition: Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000342
database cross reference: HP:0000823
hasExactSynonym: Delayed Development of Secondary Sex Characteristics
hasExactSynonym: Delayed Onset of Sexual Maturity
hasExactSynonym: Delayed Pubertal Development
hasExactSynonym: Delayed Sexual Maturation
hasExactSynonym: Delayed Sexual Maturity
hasExactSynonym: Delayed pubertal growth
hasExactSynonym: Pubertal Delay

Growth Hormone Deficiency
type: Class
subclass of: Abnormality of the Endocrine System
definition: Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism.
existence in other ontologies: Sufficient
previous identifier: SCDO:0008218
database cross reference: HP:0000824

Abnormality of the Parathyroid Gland
type: Class
subclass of: Abnormality of the Endocrine System
definition: An abnormality of the parathyroid gland.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000279
database cross reference: HP:0000828

Hypoparathyroidism
type: Class
subclass of: Abnormality of the Parathyroid Gland
definition: A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.
existence in other ontologies: Sufficient
previous identifier: SCDO:0007386
database cross reference: HP:0000829
hasExactSynonym: Decreased Parathyroid Hormone Secretion
hasExactSynonym: Low Parathyroid Hormone

Abnormality of the Adrenal Glands
type: Class
subclass of: Abnormality of the Endocrine System
definition: Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kidneys.
existence in other ontologies: Sufficient
previous identifier: SCDO:0007437
database cross reference: HP:0000834
hasExactSynonym: Adrenal Abnormalities
hasExactSynonym: Adrenal Abnormality

Hyperthyroidism
type: Class
subclass of: Abnormality of the Thyroid Gland
definition: An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).
curator note: Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000595
database cross reference: HP:0000836
hasExactSynonym: Overactive Thyroid

Hyperinsulinemia
type: Class
subclass of: Abnormality of the Endocrine System
subclass of: Abnormal Glucose Homeostasis
subclass of: Restriction
  on property: treated with
  some values from: Exercise
definition: An increased concentration of insulin in the blood.
curator note: Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000587
database cross reference: HP:0000842
hasExactSynonym: Elevated Insulin Level

Hyperparathyroidism
type: Class
subclass of: Abnormality of the Parathyroid Gland
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: Excessive production of parathyroid hormone (PTH) by the parathyroid glands.
curator note: Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000592
database cross reference: HP:0000843
hasExactSynonym: Elevated Blood Parathyroid Hormone Level

Insulin Resistance
type: Class
subclass of: Abnormal Glucose Homeostasis
subclass of: Restriction
  on property: treated with
  some values from: Exercise
subclass of: Restriction
  on property: treated with
  some values from: Healthy Diet
subclass of: Restriction
  on property: treated with
  some values from: Healthy Lifestyle
definition: Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000644
database cross reference: HP:0000855
hasExactSynonym: Body Fails to Respond to Insulin

Diabetes Insipidus
type: Class
subclass of: Abnormality of the Endocrine System
definition: A state of excessive water excretion and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).
existence in other ontologies: Sufficient
previous identifier: SCDO:0000366
database cross reference: HP:0000873

Oligomenorrhea
type: Class
subclass of: Abnormal Reproductive System Morphology
definition: Infrequent menses (less than 6 per year or more than 35 days between cycles).
existence in other ontologies: Sufficient
previous identifier: SCDO:0003158
database cross reference: HP:0000876
hasExactSynonym: Light or Infrequent Menstrual Periods

Abnormality of the Skeletal System
type: Class
subclass of: Abnormal Phenotype
definition: An abnormality of the skeletal system.
existence in other ontologies: Sufficient
previous identifier: SCDO:0006301
database cross reference: HP:0000924
hasExactSynonym: Skeletal Abnormalities
hasExactSynonym: Skeletal Anomalies

Osteopenia
type: Class
subclass of: Abnormality of the Skeletal System
subclass of: Restriction
  on property: treated with
  some values from: Exercise
subclass of: Restriction
  on property: treated with
  some values from: Diet, Food, and Nutrition
subclass of: Restriction
  on property: treated with
  some values from: Healthy Diet
subclass of: Restriction
  on property: treated with
  some values from: Healthy Lifestyle
definition: Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
curator note: Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000843
database cross reference: HP:0000938
hasExactSynonym: Decreased Bone Mineral Density
hasExactSynonym: Generalized Osteopenia

Osteoporosis
type: Class
subclass of: Abnormality of the Skeletal System
subclass of: Restriction
  on property: treated with
  some values from: Exercise
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
curator note: Provide source for additional info.
is caused by: Genetic predisposition, low calcium diet, getting little exercise, smoking, decrease in estrogen at the menopause, steroid medicine use for a long time, Vitamin D insufficiency.
is characterised by: Bone pain, backache, gradual loss of height, stooped posture, fractures.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000844
database cross reference: HP:0000939

Abnormality of the Skin
type: Class
subclass of: Abnormality of the Integument
definition: An abnormality of the skin.
existence in other ontologies: Sufficient
previous identifier: SCDO:0008348
database cross reference: HP:0000951
hasExactSynonym: Abnormal skin morphology
hasExactSynonym: Abnormal skin structure
hasExactSynonym: Dermatopathy
hasExactSynonym: Dermopathy
hasExactSynonym: Skin Abnormality

Jaundice
type: Class
subclass of: Abnormality of Skin Morphology
subclass of: Quality of Life Related SCD Symptoms and Complications
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
definition: Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000671
database cross reference: HP:0000952
hasExactSynonym: Icterus
hasExactSynonym: Yellow Skin
hasExactSynonym: Yellowing of the Skin

Cutaneous Hyperpigmentation
type: Class
subclass of: Abnormality of Skin Morphology
definition: A darkening of the skin related to an increase in melanin production and deposition.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000308
database cross reference: HP:0000953
hasExactSynonym: Hyperpigmentation of the Skin
hasExactSynonym: Increased Skin Pigmentation
hasExactSynonym: Melanoderma
hasExactSynonym: Melanodermia
hasExactSynonym: Skin Hyperpigmentation

Cyanosis
type: Class
subclass of: Abnormality of Skin Morphology
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
definition: Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000309
database cross reference: HP:0000961
hasExactSynonym: Blue Discoloration of the Skin
hasExactSynonym: Cyanotic

Hyperkeratosis
type: Class
subclass of: Abnormality of Skin Morphology
subclass of: Restriction
  on property: treated with
  some values from: Surgery
definition: Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000589
database cross reference: HP:0000962

Petechiae
type: Class
subclass of: Abnormality of the Vasculature
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
definition: Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000892
database cross reference: HP:0000967

Edema
type: Class
subclass of: Abnormality of Metabolism/Homeostasis
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000823
database cross reference: HP:0000969
hasExactSynonym: Dropsy
hasExactSynonym: Fluid Retention
hasExactSynonym: Hydrops
hasExactSynonym: Oedema
hasExactSynonym: Water Retention

Pallor
type: Class
subclass of: Abnormality of Skin Morphology
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Abnormally pale skin.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000863
database cross reference: HP:0000980

Pyoderma
type: Class
subclass of: Abnormality of the Immune System
subclass of: Abnormality of Skin Physiology
subclass of: Restriction
  on property: treated with
  some values from: Antibiotic
definition: Any manifestation of a skin disease associated with the production of pus.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000946
database cross reference: HP:0000999
hasExactSynonym: Pus-Filled Lesion

Hypopigmentation
type: Class
subclass of: Abnormality of Skin Morphology
definition: A reduction of skin color related to a decrease in melanin production and deposition.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000601
database cross reference: HP:0001010
hasExactSynonym: Hypopigmentation of the Skin
hasExactSynonym: Hypopigmented Skin
hasExactSynonym: Skin Hypopigmentation

Albinism
type: Class
subclass of: Hypopigmentation
definition: An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).
existence in other ontologies: Sufficient
previous identifier: SCDO:0000036
database cross reference: HP:0001022
hasExactSynonym: Achromasia

Urticaria
type: Class
subclass of: Abnormality of the Vasculature
definition: Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001219
database cross reference: HP:0001025
hasExactSynonym: Hives

Acne
type: Class
subclass of: Skin Inflammation
subclass of: Restriction
  on property: treated with
  some values from: Antibiotic
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).
existence in other ontologies: Sufficient
previous identifier: SCDO:0000012
database cross reference: HP:0001061
hasExactSynonym: Break Out
hasExactSynonym: Breaking Out

Cholelithiasis
type: Class
subclass of: Abnormality of the Digestive System
subclass of: Restriction
  on property: treated with
  some values from: Amoxycillin
subclass of: Restriction
  on property: treated with
  some values from: Metronidazole
subclass of: Restriction
  on property: treated with
  some values from: Gentamicin
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Hard, pebble-like deposits that form within the gallbladder.
curator note: Add here "bilirubin gallstones" (see paper "Liver involvement in sickle cell disease" by Emel GÜRKAN et al.). in HP these are called "Pigment Gallstones".
existence in other ontologies: Sufficient
previous identifier: SCDO:0007091
database cross reference: HP:0001081
hasExactSynonym: Gallstones

Abnormality of Prenatal Development or Birth
type: Class
subclass of: Abnormal Phenotype
definition: An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000262
database cross reference: HP:0001197

Seizure
type: Class
subclass of: Abnormal Nervous System Physiology
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures.
curator note: Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001030
database cross reference: HP:0001250
hasExactSynonym: Seizures

Lethargy
type: Class
subclass of: Abnormal Nervous System Physiology
definition: A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.
existence in other ontologies: Sufficient
previous identifier: SCDO:0003089
database cross reference: HP:0001254

Dysarthria
type: Class
subclass of: Abnormal Nervous System Physiology
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Magnetic Resonance Imaging
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Personal Medical History
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Test
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Physical Examination
subclass of: Restriction
  on property: treated with
  some values from: Surgery
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
curator note: - Use description to add sub-classes of types of Dysarthria? -- Use text in comments to add relevant terms regarding disease progression? And link to these terms with relevant object property
existence in other ontologies: Sufficient
previous identifier: SCDO:0000403
database cross reference: HP:0001260
hasExactSynonym: Difficulty Articulating Speech
hasExactSynonym: Dysarthric Speech

Hyporeflexia
type: Class
subclass of: Abnormal Nervous System Physiology
definition: Reduction of neurologic reflexes such as the knee-jerk reaction.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000602
database cross reference: HP:0001265
hasExactSynonym: Decreased Reflex Response
hasExactSynonym: Decreased Reflexes

Hemiparesis
type: Class
subclass of: Abnormal Nervous System Physiology
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.
existence in other ontologies: Sufficient
previous identifier: SCDO:0008272
database cross reference: HP:0001269
hasExactSynonym: Weakness of One Side of Body

Polyneuropathy
type: Class
subclass of: Peripheral Neuropathy
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Urine Test
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Spirometry
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Test
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Physical Examination
subclass of: Restriction
  on property: treated with
  some values from: Occupational Therapy
subclass of: Restriction
  on property: treated with
  some values from: Physiotherapy
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
definition: A generalized disorder of peripheral nerves.
is caused by: Acute polyneuropathy has many causes: Infections involving a toxin produced by bacteria, as occurs in diphtheria,An autoimmune reaction (when the body attacks its own tissues), as occurs in Guillain-Barré syndrome (see Guillain-Barré Syndrome), Drugs, including the anticonvulsant phenytoin, some antibiotics (such as chloramphenicol, nitrofurantoin, and sulfonamides), some chemotherapy drugs (such as vinblastine and vincristine), and some sedatives (such as barbital and hexobarbital), Cancer (such as multiple myeloma), which damages nerves by directly invading or putting pressure on them or by triggering an autoimmune reaction, Certain toxins, such as organophosphate insecticides, triorthocresyl phosphate (TOCP), and thallium The cause of chronic polyneuropathy is often unknown. Known causes include the following: Diabetes Mellitus, Excessive use of alcohol, Nutritional deficiencies (such as thiamin deficiency), an uncommon cause in the United States, except among alcoholics who are malnourished, Vitamin B12 deficiency, which causes subacute combined degeneration of the spinal cord (see Subacute Combined Degeneration) and often pernicious anemia (see Inadequate absorption), An underactive thyroid gland (hypothyroidism), Toxic substances, including heavy metals such as lead and mercury, Kidney failure, Certain cancers, such as lung cancer, Rarely, vitamin B6 (pyridoxine) taken in excessive amounts.
is characterised by: Acute polyneuropathy (as occurs in Guillain-Barré syndrome) begins suddenly in both legs and progresses rapidly upward to the arms. Symptoms include weakness and a pins-and-needles sensation or loss of sensation. The muscles that control breathing may be affected, resulting in respiratory failure.In the most common form of chronic polyneuropathy, only sensation is affected. Usually, the feet are affected first, but sometimes the hands are. A pins-and-needles sensation, numbness, burning pain, and loss of vibration sense and position sense (knowing where the arms and legs are) are prominent symptoms. Because position sense is lost, walking and even standing become unsteady. Consequently, muscles may not be used. Eventually, they may weaken and waste away. Then, muscles may become stiff and permanently shortened (called contractures). Diabetic neuropathy commonly causes painful tingling or burning sensations in the hands and feet-a condition called distal polyneuropathy. Pain is often worse at night and may be aggravated by touch or by a change in temperature. People may lose the senses of temperature and pain, so they often burn themselves and may have open sores caused by prolonged pressure or other injuries. Without pain as a warning of too much stress, joints are susceptible to injuries. This type of injury is called neurogenic arthropathy (Charcot joints) Polyneuropathy often affects the nerves of the autonomic nervous system, which controls involuntary functions in the body (such as blood pressure, heart rate, digestion, salivation, and urination). Typical symptoms are constipation, sexual dysfunction, and fluctuating blood pressure-most notably a sudden fall in blood pressure when a person stands up (orthostatic hypotension). The skin may become pale and dry, and sweating may be reduced. Much less often, control of bowel movements or urination is lost, leading to fecal or urinary incontinence.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000914
dc:source: polyneuropathy
dc:source: overview-of-polyneuropathy
database cross reference: HP:0001271
hasExactSynonym: Peripheral Nerve Disease

Syncope
type: Class
subclass of: Abnormal Cardiovascular System Physiology
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
existence in other ontologies: Sufficient
previous identifier: SCDO:0008553
database cross reference: HP:0001279
hasExactSynonym: Fainting Spell

Meningitis
type: Class
subclass of: Abnormality of the Immune System
subclass of: Infection
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Magnetic Resonance Imaging
subclass of: Restriction
  on property: treated with
  some values from: Antibiotic
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Inflammation of the meninges.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000744
database cross reference: HP:0001287

Confusion
type: Class
subclass of: Abnormal Nervous System Physiology
definition: Lack of clarity and coherence of thought, perception, understanding, or action.
curator note: -- Perhaps move below "Behavioral Abnormality"?
existence in other ontologies: Sufficient
previous identifier: SCDO:0000273
database cross reference: HP:0001289

Encephalopathy
type: Class
subclass of: Abnormal Nervous System Physiology
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Imaging Assay
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Test
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Electroencephalography
subclass of: Restriction
  on property: treated with
  some values from: Diet, Food, and Nutrition
subclass of: Restriction
  on property: treated with
  some values from: Renal Dialysis
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
definition: A term that means brain disease, damage, or malfunction. In general, it is manifested by an altered mental state.
curator note: -- Provide source for additional info. -- -- Specify which Blood Tests and Which Imaging Tests are used to diagnose.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000429
database cross reference: HP:0001298

Cerebral Hemorrhage
type: Class
subclass of: Intracranial Hemorrhage
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Magnetic Resonance Imaging
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Imaging Assay
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Test
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Fluorescein Angiography
subclass of: Restriction
  on property: treated with
  some values from: Analgesic
subclass of: Restriction
  on property: treated with
  some values from: Occupational Therapy
subclass of: Restriction
  on property: treated with
  some values from: Physiotherapy
subclass of: Restriction
  on property: treated with
  some values from: Surgery
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
definition: Hemorrhage into the parenchyma of the brain.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000209
database cross reference: HP:0001342
hasExactSynonym: Bleeding in Brain
hasExactSynonym: Hemorrhagic Stroke
hasExactSynonym: Intracerebral Bleeding
hasExactSynonym: Intracerebral Hemorrhage

Kernicterus
type: Class
subclass of: Abnormal Nervous System Morphology
definition: Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000673
database cross reference: HP:0001343

Arthritis
type: Class
subclass of: Abnormality of the Skeletal System
subclass of: Restriction
  on property: treated with
  some values from: Analgesic
subclass of: Restriction
  on property: treated with
  some values from: Physiotherapy
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
definition: Inflammation of a joint.
has age of onset: Any age
is caused by: Infection (bacteria), ischemia, joint injury (trauma, surgery), degeneration.
is characterised by: Joint pain, joint swelling, stiffness, lack of function.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000075
database cross reference: HP:0001369
hasExactSynonym: Joint Inflammation

Rheumatoid Arthritis
type: Class
subclass of: Arthritis
subclass of: Abnormality of the Immune System
subclass of: Restriction
  on property: treated with
  some values from: Occupational Therapy
subclass of: Restriction
  on property: treated with
  some values from: Physiotherapy
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: An autoimmune response that primarily affects connective tissue; it also results in chronic inflammation of the joints, especially of the hands and feet and may also cause inflammation of the tissue around the joints, as well as other organs in the body.
curator note: Provide source for additional info.
definition source: http://purl.obolibrary.org/obo/MP_0003561
existence in other ontologies: Sufficient
previous identifier: SCDO:0001011
database cross reference: HP:0001370
hasExactSynonym: Osteoarthrosis Deformans
hasExactSynonym: RA

Flexion Contracture
type: Class
subclass of: Abnormality of the Skeletal System
definition: A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001324
database cross reference: HP:0001371
hasExactSynonym: Flexion Contractures
hasExactSynonym: Flexion Contractures of Joints
hasExactSynonym: Joint Contracture
hasExactSynonym: Joint Contractures

Joint Hypermobility
type: Class
subclass of: Abnormality of the Skeletal System
subclass of: Restriction
  on property: treated with
  some values from: Exercise
subclass of: Restriction
  on property: treated with
  some values from: Analgesic
subclass of: Restriction
  on property: treated with
  some values from: Anti-Inflammatory Agent
definition: The ability of a joint to move beyond its normal range of motion.
curator note: Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000672
database cross reference: HP:0001382
hasExactSynonym: Double-Jointed
hasExactSynonym: Hyperextensible Joints
hasExactSynonym: Increased Mobility of Joints
hasExactSynonym: Joint Hyperextensibility

Abnormality of the Liver
type: Class
subclass of: Abnormality of the Digestive System
definition: An abnormality of the liver.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000272
database cross reference: HP:0001392
hasExactSynonym: Complication of the Liver
hasExactSynonym: Liver Abnormality
hasExactSynonym: Liver Complication

Cirrhosis
type: Class
subclass of: Abnormality of the Liver
definition: A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001488
database cross reference: HP:0001394
hasExactSynonym: Hepatic Cirrhosis
hasExactSynonym: Scar Tissue Replaces Healthy Tissue in the Liver

Hepatic Fibrosis
type: Class
subclass of: Abnormality of the Liver
definition: The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001493
database cross reference: HP:0001395

Intrahepatic Cholestasis
type: Class
subclass of: Abnormality of the Liver
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Impairment of bile flow due to obstruction in the small bile ducts within the liver.
curator note: Is managed by: analgesia, hydration, antibiotics, and in severe cases exchange transfusion may be needed.
existence in other ontologies: Sufficient
previous identifier: SCDO:0009774
database cross reference: HP:0001406

Hepatosplenomegaly
type: Class
subclass of: Abnormality of the Liver
subclass of: Abnormality of the Spleen
subclass of: Hepatic Complication
definition: Simultaneous enlargement of the liver and spleen.
existence in other ontologies: Sufficient
previous identifier: SCDO:0007326
database cross reference: HP:0001433

Growth Abnormality
type: Class
subclass of: Abnormal Phenotype
definition: Abnormality of growth.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000271
database cross reference: HP:0001507
hasExactSynonym: Abnormal Growth
hasExactSynonym: Growth Issue

Failure to Thrive
type: Class
subclass of: Growth Abnormality
definition: Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
existence in other ontologies: Sufficient
previous identifier: SCDO:0002729
database cross reference: HP:0001508
hasExactSynonym: FTT
hasExactSynonym: Faltering Weight
hasExactSynonym: Poor Weight Gain
hasExactSynonym: Postnatal Failure to Thrive
hasExactSynonym: Undergrowth
hasExactSynonym: Weight Faltering

Intrauterine Growth Restriction
type: Class
subclass of: Abnormality of Prenatal Development or Birth
subclass of: Growth Abnormality
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
curator note: Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000658
database cross reference: HP:0001511
hasExactSynonym: IUGR
hasExactSynonym: Intrauterine Growth Retardation
hasExactSynonym: Prenatal Growth Retardation
hasExactSynonym: Prenatal-Onset Growth Retardation
hasExactSynonym: Small for Gestational Age Infant

Obesity
type: Class
subclass of: Growth Abnormality
subclass of: Restriction
  on property: treated with
  some values from: Healthy Diet
subclass of: Restriction
  on property: treated with
  some values from: Behaviour Therapy
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Body weight that is grossly above the acceptable or desirable weight, usually due to accumulation of excess fats in the body. The standards may vary with age, sex, genetic or cultural background. In the body mass index (BMI), a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000816
database cross reference: HP:0001513
hasExactSynonym: Having too much body fat

Abnormality of the Integument
type: Class
subclass of: Abnormal Phenotype
definition: An abnormality of the integument, which consists of the skin and the superficial fascia.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000274
database cross reference: HP:0001574

Preterm Delivery
type: Class
subclass of: Abnormality of Prenatal Development or Birth
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: The birth of a baby of less than 37 weeks of gestational age.
curator note: Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000920
database cross reference: HP:0001622
hasExactSynonym: Premature Birth
hasExactSynonym: Premature Delivery
hasExactSynonym: Premature Delivery of Affected Infants
hasExactSynonym: Preterm Birth

Abnormality of Cardiovascular System
type: Class
subclass of: Abnormal Phenotype
definition: Any abnormality of the cardiovascular system.
existence in other ontologies: Sufficient
previous identifier: SCDO:0002245
database cross reference: HP:0001626
hasExactSynonym: Abnormality of the Cardiovascular System
hasExactSynonym: Cardiovascular Abnormality

Cardiac Failure
type: Class
subclass of: Abnormal Cardiovascular System Physiology
definition: The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
definition source: HP:0001635
existence in other ontologies: Sufficient
previous identifier: SCDO:0004877
database cross reference: HP:0001635
hasExactSynonym: CHF
hasExactSynonym: Cardiac Insufficiency,
hasExactSynonym: Congestive Heart Failure
hasExactSynonym: Heart Failure

Cardiomegaly
type: Class
subclass of: Abnormal Cardiovascular System Morphology
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
definition: Increased size of the heart.
existence in other ontologies: Sufficient
previous identifier: SCDO:0008273
database cross reference: HP:0001640
hasExactSynonym: Enlarged Heart
hasExactSynonym: Increased Heart Size

Myocardial Infarction
type: Class
subclass of: Abnormal Cardiovascular System Physiology
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.
existence in other ontologies: Sufficient
previous identifier: SCDO:0007991
database cross reference: HP:0001658

Pericarditis
type: Class
subclass of: Abnormal Cardiovascular System Physiology
definition: Inflammation of the sac-like covering around the heart (pericardium).
existence in other ontologies: Sufficient
previous identifier: SCDO:0003765
database cross reference: HP:0001701

Left Ventricular Hypertrophy
type: Class
subclass of: Ventricular Hypertrophy
definition: Enlargement or increased size of the heart left ventricle.
existence in other ontologies: Sufficient
previous identifier: SCDO:0002803
database cross reference: HP:0001712
hasExactSynonym: Heart Left Ventricle Hypertrophy
hasExactSynonym: Left Ventricular Wall Hypertrophy

Ventricular Hypertrophy
type: Class
subclass of: Abnormal Cardiovascular System Morphology
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
definition: Enlargement of the cardiovascular ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001231
database cross reference: HP:0001714

Abnormality of the Spleen
type: Class
subclass of: Abnormality of the Immune System
subclass of: Abnormality of the Digestive System
definition: An abnormality of the spleen.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000370
database cross reference: HP:0001743

Splenomegaly
type: Class
subclass of: Abnormality of the Spleen
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Abnormal increased size of the spleen.
existence in other ontologies: Sufficient
previous identifier: SCDO:0005287
database cross reference: HP:0001744
hasExactSynonym: Increased Spleen Size
comment: Results from splenic sequestration

Abnormal Delivery
type: Class
subclass of: Abnormality of Prenatal Development or Birth
definition: An abnormality of the birth process.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000372
database cross reference: HP:0001787

Hydrops Fetalis
type: Class
subclass of: Edema
subclass of: Abnormality of Prenatal Development or Birth
subclass of: Restriction
  on property: treated with
  some values from: Blood Transfusion
subclass of: Restriction
  on property: treated with
  some values from: Exchange Transfusion, Whole Blood
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
definition: The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000578
database cross reference: HP:0001789

Abnormality of Blood and Blood-Forming Tissues
type: Class
subclass of: Abnormal Phenotype
subclass of: SCDO_1000820
definition: An abnormality of the hematopoietic system.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000264
database cross reference: HP:0001871
hasExactSynonym: Abnormality of the Hematopoietic System
hasExactSynonym: Hematological Abnormality
hasExactSynonym: Hematopoietic System Abnormality

Abnormal Thrombocyte Morphology
type: Class
subclass of: Abnormality of Blood and Blood-Forming Tissues
definition: An abnormality of platelets. Platelets, also known as thrombocytes, are non-nucleated disk-shaped cells mainly involved in blood coagulation.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000616
database cross reference: HP:0001872
hasExactSynonym: Platelet Abnormalities

Thrombocytopenia
type: Class
subclass of: Abnormal Platelet Count
definition: A reduction in the number of circulating thrombocytes.
existence in other ontologies: Sufficient
previous identifier: SCDO:0002700
database cross reference: HP:0001873

Abnormality of Neutrophils
type: Class
subclass of: Abnormality of Blood and Blood-Forming Tissues
definition: A neutrophil abnormality.
definition source: HP:0001874
existence in other ontologies: Sufficient
previous identifier: SCDO:1000440
database cross reference: HP:0001874
comment: Neutrophils are the most abundant leukocytes in blood and are considered to be the first line of defense during inflammation and infections. They are myeloid granulocytes and their names is derived from the fact that their cytoplasm contains granules that stain with acidic dye as well as granules that stain with basic dye. Their nuclei consist of three to five lobes connected by slender threads of chromatin. Mature neutrophils live for approximately one day.

Neutropenia
type: Class
subclass of: Abnormal Neutrophil Count
definition: An abnormally low number of neutrophils in the peripheral blood.
existence in other ontologies: Sufficient
previous identifier: SCDO:0009334
database cross reference: HP:0001875
hasExactSynonym: Decreased Neutrophil Count
hasExactSynonym: Low Blood Neutrophil Count
hasExactSynonym: Low Neutrophil Count
hasExactSynonym: Peripheral Neutropenia

Abnormal Erythrocyte Morphology
type: Class
subclass of: Abnormality of Blood and Blood-Forming Tissues
definition: Any structural abnormality of erythrocytes (red-blood cells).
existence in other ontologies: Sufficient
previous identifier: SCDO:1000285
database cross reference: HP:0001877

Hemolytic Anemia
type: Class
subclass of: Anemia
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A type of anemia caused by premature destruction of red blood cells (hemolysis).
existence in other ontologies: Sufficient
previous identifier: SCDO:0003844
database cross reference: HP:0001878

Leukopenia
type: Class
subclass of: Abnormal Leukocyte Count
definition: An abnormal decreased number of leukocytes in the blood.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000614
database cross reference: HP:0001882
hasExactSynonym: Decreased Blood Leukocyte Number
hasExactSynonym: Low White Blood Cell Count

Megaloblastic Anemia
type: Class
subclass of: Anemia
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).
existence in other ontologies: Sufficient
previous identifier: SCDO:0005864
database cross reference: HP:0001889

Thrombocytosis
type: Class
subclass of: Abnormal Platelet Count
definition: Thrombocythemia and thrombocytosis are conditions with a higher than normal number of platelets. The term "thrombocythemia" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia. Increased numbers of platelets in the peripheral blood.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000618
database cross reference: HP:0001894
hasExactSynonym: Increased Number of Platelets in Blood
hasExactSynonym: Increased Platelet Count

Reticulocytopenia
type: Class
subclass of: Abnormality of Reticulocytes
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
definition: A reduced number of reticulocytes in the peripheral blood.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001423
database cross reference: HP:0001896
hasExactSynonym: Low Reticulocyte Count
hasExactSynonym: Reduced Number of Reticulocytes
hasExactSynonym: Reduced Reticulocyte Count

Anemia
type: Class
subclass of: Abnormal Erythrocyte Morphology
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A reduction in erythrocytes volume or hemoglobin concentration.
existence in other ontologies: Sufficient
previous identifier: SCDO:0005660
database cross reference: HP:0001903

Leukaemia
type: Class
subclass of: Cancer
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
definition: A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000687
database cross reference: HP:0001909
hasExactSynonym: Blood Cancer

Acute Kidney Injury
type: Class
subclass of: Kidney Failure
subclass of: Restriction
  on property: treated with
  some values from: Renal Dialysis
subclass of: Restriction
  on property: treated with
  some values from: Supportive Therapeutics
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Serum Creatinine Level
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urine Measurement
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Glomerular Filtration Rate
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).
curator note: Further work
curator note: Provide source for additional info.
curator note: There is conflicting positioning of this term in different ontologies. Need an expert to decide descriptions and positioning of this and related terms.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000017
database cross reference: HP:0001919
hasExactSynonym: Acute Kidney Failure
hasExactSynonym: Acute Renal Failure
comment: Acute renal failure is usually classified into prerenal (response to severe volume depletion), intrinsic (response to acute cytotoxic, ischemic, or inflammatory insults) and postrenal (response to obstruction of the passage of urine) etiologies.

Renal Artery Stenosis
type: Class
subclass of: Abnormality of the Kidney
subclass of: Restriction
  on property: treated with
  some values from: Surgery
definition: The presence of stenosis of the renal artery.
curator note: Provide source for additional info.
has age of onset: If due to FMD, presents at younger age, typically between 25-50 (and more common in women); if related to atherosclerotic disase, more likely to present after age 50.
is caused by: May be caused by atherosclerotic disease, fibromuscular dysplasia.
is characterised by: Reduced blood flow through the renal arteries, large and branching vessels.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000982
database cross reference: HP:0001920
hasExactSynonym: Narrowing of Kidney Artery
hasExactSynonym: RAS

Reticulocytosis
type: Class
subclass of: Abnormality of Reticulocytes
subclass of: Restriction
  on property: caused by
  some values from: Splenic Sequestration
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
definition: An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001272
database cross reference: HP:0001923
hasExactSynonym: High Reticulocyte Count
hasExactSynonym: Increased Immature Red Blood Cells
hasExactSynonym: Increased Number of Immature Red Blood Cells
hasExactSynonym: Increased Reticulocyte Count
hasExactSynonym: Increased Reticulocytes

Hypochromic Anemia
type: Class
subclass of: Anemia
definition: A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.
existence in other ontologies: Sufficient
previous identifier: SCDO:0007371
database cross reference: HP:0001931

Microcytic Anemia
type: Class
subclass of: Anemia
definition: A kind of anemia in which the volume of the red blood cells is reduced.
existence in other ontologies: Sufficient
previous identifier: SCDO:0008538
database cross reference: HP:0001935
comment: In normocytic anemia, the mean corpuscular volume (MCV) is below normal limits (>80 fl in adults).

Hypoglycemia
type: Class
subclass of: Abnormal Glucose Homeostasis
definition: A decreased concentration of glucose in the blood.
curator note: Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000599
database cross reference: HP:0001943
hasExactSynonym: Low Blood Sugar

Diabetic Ketoacidosis
type: Class
subclass of: Diabetes Mellitus
subclass of: Restriction
  on property: treated with
  some values from: Hydration Therapy
definition: A type of diabetic metabolic abnormality with an accumulation of ketone bodies.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000369
database cross reference: HP:0001953
hasExactSynonym: Diabetic Ketosis

Interstitial Nephritis
type: Class
subclass of: Nephritis
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Urine Test
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Personal Medical History
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
definition: A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000652
database cross reference: HP:0001970
hasExactSynonym: Tubulointerstitial Nephritis

Leukocytosis
type: Class
subclass of: Abnormal Leukocyte Count
definition: An abnormal increase in the number of leukocytes in the blood.
existence in other ontologies: Sufficient
previous identifier: SCDO:0005790
database cross reference: HP:0001974
hasExactSynonym: Elevated White Blood Count
hasExactSynonym: High White Blood Count
hasExactSynonym: Increased Blood Leukocyte Number

Abnormal Thrombosis
type: Class
subclass of: Abnormality of Blood and Blood-Forming Tissues
definition: Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).
existence in other ontologies: Sufficient
previous identifier: SCDO:1000287
database cross reference: HP:0001977

Facial Dysmorphisms
type: Class
subclass of: Abnormality of the Face
definition: An abnormal morphology (form) of the face or its components.
curator note: Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001314
database cross reference: HP:0001999
hasExactSynonym: Abnormal Morphology of the Face
hasExactSynonym: Abnormal facial shape
hasExactSynonym: Dysmorphic Facial Features
hasExactSynonym: Unusual Facial Appearance

Frontal Bossing
type: Class
subclass of: Abnormality of the Skeletal System
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
definition: Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001337
database cross reference: HP:0002007
hasExactSynonym: Frontal Protruberance
hasExactSynonym: Skull Bossing

Diarrhea
type: Class
subclass of: Abnormality of the Digestive System
definition: Abnormally increased frequency of loose or watery bowel movements.
existence in other ontologies: Sufficient
previous identifier: SCDO:0008043
database cross reference: HP:0002014
hasExactSynonym: Diarrhoea
hasExactSynonym: Watery stool

Constipation
type: Class
subclass of: Abnormality of the Digestive System
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Infrequent or difficult evacuation of feces.
existence in other ontologies: Sufficient
previous identifier: SCDO:0003263
database cross reference: HP:0002019
hasExactSynonym: Constipation
hasExactSynonym: Costiveness
hasExactSynonym: Dyschezia

Cerebral Atrophy
type: Class
subclass of: Abnormality of the Cerebrum
definition: Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000203
database cross reference: HP:0002059
hasExactSynonym: Cortical Atrophy
hasExactSynonym: Degeneration of Cerebrum
hasExactSynonym: Supratentorial Atrophy
comment: Atrophy may be progressive over time.

Abnormality of the Cerebrum
type: Class
subclass of: Abnormal Nervous System Morphology
definition: An abnormality of the telencephalon, which is also known as the cerebrum.
existence in other ontologies: Sufficient
previous identifier: SCDO:0008895
database cross reference: HP:0002060
hasExactSynonym: Abnormal Cerebral Morphology
hasExactSynonym: Abnormality of the Telencephalon

Bradykinesia
type: Class
subclass of: Abnormal Nervous System Physiology
definition: Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
existence in other ontologies: Sufficient
previous identifier: SCDO:0000158
database cross reference: HP:0002067
hasExactSynonym: Slow Movements
hasExactSynonym: Slowness of Movements

Extrapyramidal Symptoms
type: Class
subclass of: Abnormal Nervous System Physiology
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Genetic Testing
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Magnetic Resonance Imaging
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Liver Function Test
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Test
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Serum Ferritin Test
definition: A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
existence in other ontologies: Sufficient
previous identifier: SCDO:0001311
database cross reference: HP:0002071
hasExactSynonym: Abnormality of Extrapyramidal Motor Function
hasExactSynonym: Extrapyramidal Dysfunction
hasExactSynonym: Extrapyramidal Signs
hasExactSynonym: Extrapyramidal Syndrome
hasExactSynonym: Extrapyramidal Tract Signs

Migraine
type: Class
subclass of: Abnormal Nervous System Physiology
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Patient Symptom Report
subclass of: Restriction
  on property: treated with
  some values from: Exercise
subclass of: Restriction
  on property: treated with
  some values from: Antihypertensive Agents
subclass of: Restriction
  on property: treated with
  some values from: Diet, Food, and Nutrition
subclass of: Restriction
  on property: treated with
  some values from: Healthy Diet
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
definition: Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000759
database cross reference: HP:0002076
hasExactSynonym: Intermittent Migraine Headaches
hasExactSynonym: Migraine Headache
comment: Roughly one-third of affected individuals can predict the onset of a migraine because it is preceded by an "aura," visual disturbances that appear as flashing lights, zig-zag lines or a temporary loss of vision. People with migraine tend to have recurring attacks triggered by a number of different factors, including stress, anxiety, hormonal changes, bright or flashing lights, lack of food or sleep, and dietary substances. Migraine in some women may relate to changes in hormones and hormonal levels during their menstrual cycle. For many years, scientists believed that migraines were linked to the dilation and constriction of blood vessels in the head. Investigators now believe that migraine has a genetic cause.

Abnormality of the Respiratory System
type: Class
subclass of: Abnormal Phenotype
definition: An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.
curator note: Curation completed by the SCDO curator team: Amy and Khuthala.
existence in other ontologies: Sufficient
previous identifier: SCDO:0004899
database cross reference: HP:0002086
hasExactSynonym: Respiratory Abnormality

Pneumonia
type: Class
subclass of: Abnormality of the Respiratory System
subclass of: Abnormality of the Immune System
definition: Inflammation of any part of the lung parenchyma.
existence in other ontologies: Sufficient
previous identifier: SCDO:0009838
database cross reference: HP:0002090

Respiratory Distress
type: Class
subclass of: Abnormality of the Respiratory System
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Difficulty in breathing. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
curator note: Is a symptom of acute chest syndrome
existence in other ontologies: Sufficient
previous identifier: SCDO:0009656
database cross reference: HP:0002098
hasExactSynonym: Breathing Difficulties
hasExactSynonym: Difficulty Breathing
hasExactSynonym: Respiratory Difficulties

Subarachnoid Hemorrhage
type: Class
subclass of: Intracranial Hemorrhage
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Magnetic Resonance Imaging
subclass of: Restriction
  on property: treated with
  some values from: Healthy Diet
subclass of: Restriction
  on property: treated with
  some values from: Tobacco Use Cessation
subclass of: Restriction
  on property: treated with
  some values from: Surgery
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: Hemorrhage occurring between the arachnoid mater and the pia mater.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001118
database cross reference: HP:0002138
hasExactSynonym: Subarachnoid Haemorrhage
comment: Subarachnoid hemorrhage may occur spontaneously, usually from a ruptured cerebral aneurysm, or may result from head injury.

Hyperuricemia
type: Class
subclass of: Azotaemia
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: An abnormally high level of uric acid in the blood.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000596
database cross reference: HP:0002149
hasExactSynonym: High Blood Uric Acid Level
hasExactSynonym: Hyperuricaemia

Azotaemia
type: Class
subclass of: Abnormal Circulating Nitrogen Compound Concentration
subclass of: Restriction
  on property: treated with
  some values from: Renal Dialysis
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
definition: An increased concentration of nitrogen compounds in the blood.
curator note: Perhaps move to below "Endocrine and Metabolic"? -- -- Check and show which source was used for the description and whether the description was adapted from the source. -- Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000093
database cross reference: HP:0002157
hasExactSynonym: Azotemia

Nail Dysplasia
type: Class
subclass of: Abnormality of the Integument
subclass of: Restriction
  on property: treated with
  some values from: Surgery
definition: The presence of developmental dysplasia of the nail.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000830
database cross reference: HP:0002164
hasExactSynonym: Dysplastic Nails
hasExactSynonym: Onychodysplasia

Intracranial Hemorrhage
type: Class
subclass of: Abnormality of the Cerebral Vasculature
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Magnetic Resonance Imaging
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Personal Medical History
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Fluorescein Angiography
subclass of: Restriction
  on property: treated with
  some values from: Antihypertensive Agents
subclass of: Restriction
  on property: treated with
  some values from: Surgery
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: X-Ray Image
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: Hemorrhage occurring within the skull.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000654
database cross reference: HP:0002170

Cerebral Edema
type: Class
subclass of: Edema
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
definition: Abnormal accumulation of fluid in the brain.
curator note: Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000207
database cross reference: HP:0002181
hasExactSynonym: Brain Edema
hasExactSynonym: Brain Oedema
hasExactSynonym: Cerebral Oedema

Pulmonary Embolism
type: Class
subclass of: Abnormal Cardiovascular System Morphology
definition: An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.
existence in other ontologies: Sufficient
previous identifier: SCDO:0007912
database cross reference: HP:0002204
hasExactSynonym: Blood Clot in Artery of Lung

Hepatomegaly
type: Class
subclass of: Abnormality of the Liver
subclass of: Hepatic Complication
definition: Abnormally increased size of the liver.
existence in other ontologies: Sufficient
previous identifier: SCDO:0005566
database cross reference: HP:0002240

Cervical Cord Compression
type: Class
subclass of: Abnormal Nervous System Morphology
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Magnetic Resonance Imaging
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Radiography
subclass of: Restriction
  on property: treated with
  some values from: Ibuprofen
subclass of: Restriction
  on property: treated with
  some values from: Physiotherapy
subclass of: Restriction
  on property: treated with
  some values from: Surgery
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: X-Ray Image
definition: Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000214
database cross reference: HP:0002341
hasExactSynonym: Cervical Cord Compression Myelopathy
hasExactSynonym: Cervical Spondylotic Myelopathy
hasExactSynonym: Spinal Cord Compression

Motor Aphasia
type: Class
subclass of: Abnormal Nervous System Physiology
definition: Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.
has age of onset: Aphasia is one of the most common communication disorders to affect the brain. Although there are no official figures, the Stroke Association estimates more than 376,000 stroke survivors in the UK are living with aphasia. Aphasia can affect people of all ages, including children. It's most common in people over 65 years old as stroke and common progressive neurological conditions tend to affect older adults
is caused by: Aphasia is caused by damage to parts of the brain responsible for understanding and using language. Common causes include:stroke, thought to be the most common cause, around one in three people experience some degree of aphasia after having a stroke.severe head injury. brain tumour.progressive neurological conditions (conditions that over time cause progressive brain and nervous system damage).
is characterised by: Experience difficulties with understanding or expressing language.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000773
database cross reference: HP:0002427
hasExactSynonym: Broca's Aphasia
hasExactSynonym: Expressive Aphasia
hasExactSynonym: Loss of Expressive Speech

Intracranial Hypertension
type: Class
subclass of: Hypertension
subclass of: Abnormal Nervous System Physiology
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
definition: An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000655
database cross reference: HP:0002516
hasExactSynonym: Increased Intracranial Pressure
hasExactSynonym: Intracranial Pressure Elevation
hasExactSynonym: Rise in Pressure Inside Skull

Abnormality of the Vasculature
type: Class
subclass of: Abnormality of Cardiovascular System
definition: An abnormality of the vasculature.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000373
database cross reference: HP:0002597

Scoliosis
type: Class
subclass of: Abnormality of the Skeletal System
subclass of: Restriction
  on property: treated with
  some values from: Physiotherapy
subclass of: Restriction
  on property: treated with
  some values from: Surgery
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: The presence of an abnormal lateral curvature of the spine.
curator note: Provide source for additional info.
is caused by: Congenital vertebral anomalies, idiopathic, result of a neuromuscular condition.
is characterised by: Spinal tortuosity.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001026
database cross reference: HP:0002650
hasExactSynonym: Abnormal Curving of the Spine

Bone Pain
type: Class
subclass of: Pain
subclass of: Restriction
  on property: treated with
  some values from: Analgesic
subclass of: Restriction
  on property: treated with
  some values from: Anti-Inflammatory Agent
subclass of: Restriction
  on property: treated with
  some values from: Surgery
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
curator note: Provide source for additional info.
is caused by: A number of diseases may cause bone pain including osteoarthritis, Paget's disease, sickle cell anemia, and bone cancer. Acute leukemia;Acute rheumatic fever, a very dangerous disease that can cause permanent cardiac damage. Bursitis;Fibromyalgia like disease has been studied as a cause of joint pain in the child.Hypermobility syndrome can present with knee or ankle pain;Injury such as a fracture. Juvenile rheumatoid arthritis;Lupus;Lyme disease, which is transmitted by ticks and is characterized by debilatating polyarthritis, neurologic symptoms, and erythema migrans.;Osteomyelitis;Osteosarcoma.Septic arthritis, a severe infection of the joint that can lead to permanent joint damage.Synovitis;Viral diseases, including the measles, influenza, mononucleosis, chickenpox, and mumps.
is characterised by: Stimulation of specialized pain-sensitive nerve fibers (nociceptors) that innervate bone tissue leads to the sensation of bone pain. Bone pain originates from both the periosteum and the bone marrow which relay nociceptive signals to the brain creating the sensation of pain. Bone tissue is innervated by both myelinated (A beta and A delta fiber) and unmyelinated (C fiber) sensory neurons. In combination, they can provide an initial burst of pain, initiated by the faster myelinated fibers, followed by a slower and longer lasting dull pain initiated by unmyelinated fibers
existence in other ontologies: Sufficient
previous identifier: SCDO:0000154
database cross reference: HP:0002653

Bone Fragility
type: Class
subclass of: Abnormality of the Skeletal System
definition: An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.
curator note: Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000153
database cross reference: HP:0002659
hasExactSynonym: Abnormal Susceptibility to Fractures
hasExactSynonym: Frequent Broken Bones
hasExactSynonym: Increased Bone Fragility
hasExactSynonym: Increased Susceptibility to Fractures
hasExactSynonym: Increased Tendency to Fractures

Lymphoma
type: Class
subclass of: Cancer
subclass of: Restriction
  on property: treated with
  some values from: Hematopoietic Stem Cell Transplantation
subclass of: Restriction
  on property: treated with
  some values from: Surgery
definition: A cancer originating in lymphocytes and presenting as a solid tumor of lymphoid cells.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000707
database cross reference: HP:0002665
hasExactSynonym: Cancer of Lymphatic System

Abnormality of the Immune System
type: Class
subclass of: Abnormal Phenotype
definition: An abnormality of the immune system.
curator note: Include as sub-class: Acquired Immunodeficiency Syndrome (term in NCIT)
existence in other ontologies: Sufficient
previous identifier: SCDO:1000273
database cross reference: HP:0002715

Systemic Lupus Erythematosus
type: Class
subclass of: Comorbid Disease
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Complete Blood Count
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Urine Test
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Chest X-Ray
subclass of: Restriction
  on property: treated with
  some values from: Anti-Inflammatory Agent
subclass of: Restriction
  on property: treated with
  some values from: Malaria Prophylaxis
definition: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001137
database cross reference: HP:0002725

Kyphosis
type: Class
subclass of: Abnormality of the Skeletal System
subclass of: Restriction
  on property: treated with
  some values from: Exercise
subclass of: Restriction
  on property: treated with
  some values from: Surgery
definition: Exaggerated anterior convexity of the thoracic vertebral column.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000679
database cross reference: HP:0002808
hasExactSynonym: Gibbus Deformity
hasExactSynonym: Hunched Back
hasExactSynonym: Hyperkyphosis
hasExactSynonym: Round Back

Arthralgia
type: Class
subclass of: Pain
subclass of: Restriction
  on property: treated with
  some values from: Analgesic
subclass of: Restriction
  on property: treated with
  some values from: Anti-Inflammatory Agent
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
definition: Joint pain.
curator note: Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000074
database cross reference: HP:0002829
hasExactSynonym: Arthralgias
hasExactSynonym: Joint pain

Obstructive Sleep Apnea
type: Class
subclass of: Behavioural Abnormality
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Electrocardiography
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Electroencephalography
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Pulse Oximetry (Rest)
subclass of: Restriction
  on property: treated with
  some values from: Healthy Lifestyle
subclass of: Restriction
  on property: treated with
  some values from: Lifestyle
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000820
database cross reference: HP:0002870
hasExactSynonym: Obstructive Sleep Apnoea

Microscopic Hematuria
type: Class
subclass of: Hematuria
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
definition: Microscopic hematuria detected by dipstick or microscopic examination of the urine.
existence in other ontologies: Sufficient
previous identifier: SCDO:0004833
database cross reference: HP:0002907
hasExactSynonym: Microhematuria
hasExactSynonym: Occult Hematuria
hasExactSynonym: Small Amount of Blood in Urine

Myoglobinuria
type: Class
subclass of: Abnormality of the Urinary System
subclass of: Restriction
  on property: treated with
  some values from: Renal Dialysis
subclass of: Restriction
  on property: treated with
  some values from: Supportive Therapeutics
definition: Presence of myoglobin in the urine.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000783
database cross reference: HP:0002913
hasExactSynonym: Increased Urine Myoglobin Level

Granulomatosis
type: Class
subclass of: Infection
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
definition: Any disease characterized by the formation of numerous granulomas.
curator note: Source needed for additional information.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000464
database cross reference: HP:0002955
comment: Has disease stages: Allergic (Churg-strauss syndrome), eosinophilic (langerhan cell histiocytosis), langerhans (langerhan cell histiocytosis), lymphomatoid, siderotica, wegeners. Is caused by: Genetic predispositions, autoimmune mediated, chronic inflammation.

Hyperlipidemia
type: Class
subclass of: Dyslipidemia
definition: An elevated lipid concentration in the blood.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000590
database cross reference: HP:0003077
hasExactSynonym: Elevated Lipids in Blood

Abnormal Urine Homeostasis
type: Class
subclass of: Abnormality of the Urinary System
subclass of: Abnormality of Metabolism/Homeostasis
definition: An abnormality of the composition of urine or the levels of its components.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000651
database cross reference: HP:0003110
hasExactSynonym: Abnormal Urine Chemistry
hasExactSynonym: Abnormality of Urine Homeostasis

Abnormal Echocardiogram
type: Class
subclass of: Abnormal Cardiac Test
definition: An abnormality detectable by sonography of the heart (echocardiography).
existence in other ontologies: Sufficient
previous identifier: SCDO:1000267
database cross reference: HP:0003116
hasExactSynonym: Abnormal ECG
hasExactSynonym: Abnormal Echocardiography

Tubular Proteinuria
type: Class
subclass of: Proteinuria
subclass of: Restriction
  on property: treated with
  some values from: Angiotensin-Converting Enzyme Inhibitors
definition: Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).
existence in other ontologies: Sufficient
previous identifier: SCDO:0001196
database cross reference: HP:0003126
hasExactSynonym: Low-Molecular-Weight Proteinuria

Elevated Serum Alkaline Phosphatase
type: Class
subclass of: Abnormality of Alkaline Phosphatase Level
definition: Abnormally increased serum levels of alkaline phosphatase activity.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000664
database cross reference: HP:0003155
hasExactSynonym: Blood Alkaline Phosphatase Increased
hasExactSynonym: Decreased Circulating Alkaline Phosphatase Level
hasExactSynonym: Elevated ALP
hasExactSynonym: Elevated Alkaline Phosphatase
hasExactSynonym: High Serum Alkaline Phosphatase
hasExactSynonym: Increased Alkaline Phosphatase
hasExactSynonym: Reduced Circulating ALP

Hyposthenuria
type: Class
subclass of: Impaired Renal Concentrating Ability
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
definition: An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.
curator note: Could this be a synonym for 'Impaired Urinary Concentration' (SCDO:0000621)?
existence in other ontologies: Sufficient
previous identifier: SCDO:0008046
database cross reference: HP:0003158
comment: Urine specific gravity is lower than that of plasma < 1.008.

Myopathy
type: Class
subclass of: SCDO_1000268
subclass of: Restriction
  on property: treated with
  some values from: Analgesic
subclass of: Restriction
  on property: treated with
  some values from: Anti-Inflammatory Agent
subclass of: Restriction
  on property: treated with
  some values from: Supportive Therapeutics
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
definition: A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
curator note: Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000784
database cross reference: HP:0003198
hasExactSynonym: Muscle Tissue Disease
hasExactSynonym: Myopathic Changes
hasExactSynonym: Myopathies

Neonatal Hyperbilirubinemia
type: Class
subclass of: Hyperbilirubinemia
definition: A type of hyperbilirubinemia with neonatal onset.
existence in other ontologies: Sufficient
previous identifier: SCDO:0003776
database cross reference: HP:0003265
hasExactSynonym: High Blood Bilirubin Levels in Neonate

Decreased Serum Alkaline Phosphatase
type: Class
subclass of: Abnormality of Alkaline Phosphatase Level
definition: Abnormally reduced serum levels of alkaline phosphatase.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000667
database cross reference: HP:0003282
hasExactSynonym: Low ALP
hasExactSynonym: Low Alkaline Phosphatase
hasExactSynonym: Reduced Serum Alkaline Phosphatase

Spondylolisthesis
type: Class
subclass of: Abnormality of the Skeletal System
subclass of: Restriction
  on property: treated with
  some values from: Analgesic
subclass of: Restriction
  on property: treated with
  some values from: Anti-Inflammatory Agent
subclass of: Restriction
  on property: treated with
  some values from: Physiotherapy
subclass of: Restriction
  on property: treated with
  some values from: Surgery
definition: Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra.
curator note: Provide source for additional info.
is caused by: Spondylolysis, arthritis, degeneration, trauma, metastases or metabolic bone disease, congenital.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001102
database cross reference: HP:0003302
hasExactSynonym: Displacement of One Backbone Compared to Another
hasExactSynonym: Slipped Backbone
hasExactSynonym: Spondylolithesis

Muscle Cramps
type: Class
subclass of: SCDO_1000268
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: Sudden and involuntary contractions of one or more muscles.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000778
database cross reference: HP:0003394
hasExactSynonym: Muscle Spasm

Back Pain
type: Class
subclass of: Pain
subclass of: Restriction
  on property: treated with
  some values from: Analgesic
subclass of: Restriction
  on property: treated with
  some values from: Anti-Inflammatory Agent
subclass of: Restriction
  on property: treated with
  some values from: Surgery
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.
curator note: Provide source for additional info.
is caused by: muscle strain, trauma, surgery, fracture, osteoporosis, fibromialgia, spinal disc herniation.
is characterised by: Pain in the lower back.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000095
database cross reference: HP:0003418

EMG Abnormality
type: Class
subclass of: SCDO_1000268
definition: Abnormal results of investigations using electromyography (EMG).
existence in other ontologies: Sufficient
previous identifier: SCDO:0000428
database cross reference: HP:0003457
hasExactSynonym: Abnormal EMG
hasExactSynonym: Abnormal Electromyography (EMG).
hasExactSynonym: Abnormal Electromyography Finding
hasExactSynonym: EMG Abnormalities
hasExactSynonym: Electromyogram Abnormal

Paralysis
type: Class
subclass of: Abnormal Nervous System Physiology
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Motor paralysis is often accompanied by an impairment in the facility of movement.
curator note: Provide source for additional info.
is caused by: Most paralysis is due to strokes or injuries such as spinal cord injury or a broken neck. Other causes of paralysis include: Nerve diseases such as amyotrophic lateral sclerosis, Autoimmune diseases such as Guillain-Barre syndrome, Bell's palsy, which affects muscles in the face, Polio used to be a cause of paralysis, but polio no longer occurs in the U.S.
is characterised by: Paralysis can be complete or partial. It can occur on one or both sides of your body. It can also occur in just one area, or it can be widespread. Paralysis of the lower half of your body, including both legs, is called paraplegia. Paralysis of the arms and legs is quadriplegia.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000865
database cross reference: HP:0003470
hasExactSynonym: Inability to Move

Decreased Circulating LDL Cholesterol Level
type: Class
subclass of: Dyslipidemia
definition: Reduced amount in the blood of the lipoprotein:cholesterol complex that transports cholesterol out of the arteries and around the body, for use by various tissues in normal bodily functions.
definition source: MP_0000183
existence in other ontologies: Sufficient
previous identifier: SCDO:0000703
database cross reference: HP:0003563
hasExactSynonym: Decreased Circulating Low-Density Lipoprotein Levels
hasExactSynonym: Decreased LDL
hasExactSynonym: Decreased LDL Cholesterol Concentration
hasExactSynonym: Decreased LDL Cholesterol Level
hasExactSynonym: Decreased LDLc Concentration
hasExactSynonym: Low Circulating LDL Cholesterol Level
hasExactSynonym: Low LDL-Cholestrol Levels
hasExactSynonym: Reduced Circulating LDL Cholesterol Level

Increased Total Bilirubin
type: Class
subclass of: Hyperbilirubinemia
definition: Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000681
database cross reference: HP:0003573
hasExactSynonym: High Bili Total
hasExactSynonym: High Total Bilirubin
hasExactSynonym: Increased Bilirubin

Dyslipidemia
type: Class
subclass of: Abnormal Lipid Homeostasis
subclass of: Restriction
  on property: treated with
  some values from: Exercise
subclass of: Restriction
  on property: treated with
  some values from: Healthy Diet
subclass of: Restriction
  on property: treated with
  some values from: Healthy Lifestyle
definition: Anomalous concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the blood.
curator note: Provide source for additional info.
definition source: http://purl.obolibrary.org/obo/MP_0003949
existence in other ontologies: Sufficient
previous identifier: SCDO:0000404
database cross reference: HP:0003611
hasExactSynonym: Abnormal Circulating Lipid Concentration
hasExactSynonym: Abnormal Circulating Lipid Level
hasExactSynonym: Dyslipidaemia

Hemoglobinuria
type: Class
subclass of: Abnormality of the Kidney
subclass of: SCDO_1000383
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Urine Test
subclass of: Restriction
  on property: treated with
  some values from: Supportive Therapeutics
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
definition: The presence of free hemoglobin in the urine.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000554
database cross reference: HP:0003641
hasExactSynonym: Increased Urine Hemoglobin Level
comment: If, following hemolysis, haptoglobins (hemoglobin-binding proteins) are saturated, then free hemoglobin appears in the urine.

Psoriasis
type: Class
subclass of: Abnormality of Skin Physiology
definition: A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).
existence in other ontologies: Sufficient
previous identifier: SCDO:0000936
database cross reference: HP:0003765
hasExactSynonym: Psoriasiform Dermatitis

End Stage Kidney Disease
type: Class
subclass of: Chronic Kidney Disease
subclass of: Restriction
  on property: treated with
  some values from: Renal Dialysis
subclass of: Restriction
  on property: treated with
  some values from: Renal Transplant
subclass of: Restriction
  on property: diagnosed by
  some values from: Hyperkalemia
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Serum Creatinine Level
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine, greater than 3 months.
curator note: Check and show which source was used for the description and whether the description was adapted from the source. -- Provide source for additional info.
has age of onset: Variable
is caused by: Final outcome of any form of kidney disease ; may be caused by diabetes, hypertension, glomerular disease, polycystic kidney disease, sickle cell disease, chronic toxic injury.
is characterised by: Elevated serum creatinine, uremia, acidosis, hyperkalemia, hyperphosphatemia, secondary hyperpararthyroidism, anemia, hypertension, fluid retention.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000430
database cross reference: HP:0003774
hasExactSynonym: ESKD
hasExactSynonym: ESRD
hasExactSynonym: End Stage Renal Disease
hasExactSynonym: End Stage Renal Disease (ESRD)
hasExactSynonym: End Stage Renal Failure
hasExactSynonym: End-Stage Renal Disease
hasExactSynonym: End-Stage Renal Failure
hasExactSynonym: Stage 5 Chronic Kidney Disease

Abnormality of Reticulocytes
type: Class
subclass of: Abnormal Erythrocyte Morphology
definition: A reticulocyte abnormality.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000265
database cross reference: HP:0004312

Abnormal Circulating Nitrogen Compound Concentration
type: Class
subclass of: Abnormal Circulating Metabolite Concentration
definition: Any deviation from the normal concentration of a nitrogen compound in the blood circulation.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000647
database cross reference: HP:0004364

Abnormality of Alkaline Phosphatase Level
type: Class
subclass of: Abnormal Enzyme/Coenzyme Activity
definition: An abnormality of alkaline phosphatase level.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000666
database cross reference: HP:0004379
hasExactSynonym: Abnormality Alkaline Phosphatase Level
hasExactSynonym: Abnormality of ALP Level
hasExactSynonym: Abnormality of Alkaline Phosphatase Activity
hasExactSynonym: Alkaline Phosphatase Abnormal
comment: Note that the alkaline phosphatase family has four isoenzymes in humans, each of which additionally can have different isoforms. The primary clinical importance of measuring alkaline phosphatase is to check the possibility of bone disease or liver disease.

Poikilocytosis
type: Class
subclass of: Abnormal Erythrocyte Morphology
definition: The presence of abnormally shaped erythrocytes.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000245
database cross reference: HP:0004447

Biconcave Vertebral Bodies
type: Class
subclass of: Abnormality of the Skeletal System
subclass of: Restriction
  on property: treated with
  some values from: Analgesic
definition: Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000118
database cross reference: HP:0004586
hasExactSynonym: Biconcave Vertebrae
hasExactSynonym: Fish Mouth Deformity
hasExactSynonym: Fish Vertebrae
hasExactSynonym: Step Vertebrae

Impaired Renal Concentrating Ability
type: Class
subclass of: Abnormality of the Kidney
subclass of: Restriction
  on property: treated with
  some values from: Blood Transfusion
definition: A defect in the ability to concentrate the urine.
has age of onset: Notable within the first decade of life.
is caused by: Can be caused by tubular damage in the kidney; can be seen in sickle cell disease and sickle cell trait.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000621
database cross reference: HP:0004727
hasExactSynonym: UCD
hasExactSynonym: Urine Concentrating Defect
hasExactSynonym: Urine Concentration Defect

Ventricular Tachycardia
type: Class
subclass of: Tachycardia
definition: A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).
existence in other ontologies: Sufficient
previous identifier: SCDO:0003769
database cross reference: HP:0004756
hasExactSynonym: VT
comment: Ventricular tachycardia (VT) is a potentially life-threatening ventricular arrhythmia that presents as a wide QRS complex tachycardia, and is defined as three or more consecutive QRS complexes with a duration longer than 120 milliseconds (ms) and a rate of 100 beats per minute or more, whereby the complexes have a ventricular origin. VT can be subdivided as follows: (i) sustained VT persists for 30 seconds or more; (ii) non-sustained VT lasts less than 30 seconds; (iii) monomorphic VT displays a uniform QRS morphology; and (iv) polymorphic VT displays QRS morphologies that variy from beat to beat. VT is observed most commonly in individuals with structural heart disease or acute myocardial infarction (MI). VT may also be observed in in the setting of drug toxicity or electrolyte abnormalities or in individuals with Mendelian disease.

Increased Hemoglobin Oxygen Affinity
type: Class
subclass of: Abnormal Erythrocyte Physiology
definition: An abnormal increase in the binding affinity of hemoglobin for oxygen.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000248
database cross reference: HP:0004825
hasExactSynonym: Increased Haemoglobin Oxygen Affinity

Chronic Hemolytic Anemia
type: Class
subclass of: Hemolytic Anemia
subclass of: Chronic Anemia
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
definition: A chronic form of hemolytic anemia.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001248
database cross reference: HP:0004870

Left Ventricular Dysfunction
type: Class
subclass of: Abnormal Cardiovascular System Physiology
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.
existence in other ontologies: Sufficient
previous identifier: SCDO:0002710
database cross reference: HP:0005162
hasExactSynonym: Impaired Left Ventricular Function
hasExactSynonym: Left Ventricular Failure
hasExactSynonym: Left Ventricular Impairment
hasExactSynonym: Left-Sided Heart Failure

Spontaneous Abortion
type: Class
subclass of: Abnormal Delivery
subclass of: Pregnancy Complication
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
definition: A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001103
database cross reference: HP:0005268
hasExactSynonym: Miscarriage

Cerebral Venous Thrombosis
type: Class
subclass of: Abnormal Thrombosis
subclass of: Abnormality of the Cerebrum
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Magnetic Resonance Imaging
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Ultrasound Test
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Test
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Fluorescein Angiography
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.
curator note: Add "Cerebral Venous Sinus Thrombosis" (in the Stroke Ontology) as a sub-class
existence in other ontologies: Sufficient
previous identifier: SCDO:0000211
database cross reference: HP:0005305
hasExactSynonym: Blood Clot in Cerebral Vein
hasExactSynonym: Cerebral Thrombosis
hasExactSynonym: Cerebral Vein Thrombosis

Cerebral Vasculitis
type: Class
subclass of: Abnormality of the Cerebrum
subclass of: Restriction
  on property: diagnosed by
  some values from: Cerebrospinal Fluid Pleocytosis
definition: Inflammation of the blood vessels within the brain.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000210
database cross reference: HP:0005318

Increased Mean Corpuscular Volume
type: Class
subclass of: Abnormal Mean Corpuscular Volume
definition: Larger than normal size of erythrocytes. Macrocytosis refers to a mean cell volume (MCV) greater than 100 fL. If macrocytosis is an isolated abnormality, the amount of hemoglobin in the cell increases proportionately, so the mean cell hemoglobin concentration (MCHC) remains within normal limits.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000626
database cross reference: HP:0005518
hasExactSynonym: Erythrocyte Macrocytosis
hasExactSynonym: High MCV
hasExactSynonym: Increased MCV

Imbalanced Hemoglobin Synthesis
type: Class
subclass of: Abnormal Erythrocyte Morphology
subclass of: SCD Molecular Phenotype
subclass of: Restriction
  on property: modifies
  some values from: Alpha Thalassemia
subclass of: Restriction
  on property: modifies
  some values from: Clinical Phenotype of Beta Thalassemia
definition: Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001383
database cross reference: HP:0005560

Bacterial Endocarditis
type: Class
subclass of: Bacterial Infection
subclass of: Restriction
  on property: treated with
  some values from: Antifungal
subclass of: Restriction
  on property: treated with
  some values from: Antibiotic
definition: A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves.
curator note: Check and show which source was used for the description and whether the description was adapted from the source. -- Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000099
database cross reference: HP:0006689
hasExactSynonym: Infective Endocarditis

Attention Deficit Hyperactivity Disorder
type: Class
subclass of: Behavioural Abnormality
definition: Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000090
database cross reference: HP:0007018
hasExactSynonym: ADHD
hasExactSynonym: Attention Deficit
hasExactSynonym: Attention Deficit Disorder
hasExactSynonym: Attention Deficit-Hyperactivity Disorder
hasExactSynonym: Attention Deficits
hasExactSynonym: Childhood Attention Deficit/Hyperactivity Disorder

Leg Weakness
type: Class
subclass of: Constitutional Symptom
subclass of: SCDO_1000268
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
definition: Weakness of the muscles of the legs.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000686
database cross reference: HP:0007340
hasExactSynonym: Hind Limb Weakness
hasExactSynonym: Hindlimb Weakness
hasExactSynonym: Leg Weakness
hasExactSynonym: Lower Extremity Weakness
hasExactSynonym: Lower Limb Muscle Weakness
hasExactSynonym: Lower Limb Weakness
hasExactSynonym: Muscle Weakness in Lower Limbs
comment: Inability to perform rapid, alternating movements.

Vitreous Hemorrhage
type: Class
subclass of: Abnormality of the Eye
subclass of: Ophthalmologic Complication
subclass of: Restriction
  on property: treated with
  some values from: Vitrectomy
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Bleeding within the vitreous compartment of the eye.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001238
database cross reference: HP:0007902
hasExactSynonym: Hemorrage Within the Vitreous Humor
hasExactSynonym: Vitreous Haemorrhage

Secondary Hypothyroidism
type: Class
subclass of: Hypothyroidism
definition: A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion.
curator note: Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001028
database cross reference: HP:0008245
hasExactSynonym: TSH Deficient Hypothyroidism
hasExactSynonym: Thyroid Stimulating Hormone Deficiency
hasExactSynonym: Thyrotropin Deficiency

Nail Dystrophy
type: Class
subclass of: Abnormality of the Integument
subclass of: Restriction
  on property: treated with
  some values from: Antifungal
subclass of: Restriction
  on property: treated with
  some values from: Antibiotic
definition: Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000788
database cross reference: HP:0008404
hasExactSynonym: Dystrophic Nails
hasExactSynonym: Onychodystrophy
hasExactSynonym: Poor nail formation

Acute Tubular Necrosis
type: Class
subclass of: Acute Phenotype
subclass of: Restriction
  on property: treated with
  some values from: Renal Dialysis
subclass of: Restriction
  on property: treated with
  some values from: Supportive Therapeutics
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Serum Creatinine Level
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
definition: Acute death of renal tubular cells that usually results from prolonged renal ischemia, nephrotoxins, or sepsis.
curator note: Provide source for additional info.
has age of onset: Can occur at any age.
has disease stage: The clinical course of acute tubular necrosis may be divided into initiation, maintenance, and recovery phases.
is caused by: Renal ischemia (which can occur due to prolonged prerenal states), nephrotoxins, or sepsis. In sickle cell disease, may occur due to renal ischemia related to sickle crisis.
is characterised by: Loss of kidney function, reduced urine output, elevated serum creatinine.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000020
database cross reference: HP:0008682
hasExactSynonym: ATN
hasExactSynonym: Renal Tubular Necrosis

Exercise-Induced Rhabdomyolysis
type: Class
subclass of: SCDO_1000260
subclass of: Restriction
  on property: treated with
  some values from: Supportive Therapeutics
subclass of: Restriction
  on property: treated with
  some values from: Renal Replacement Therapy
subclass of: Restriction
  on property: induced by
  some values from: Exercise
definition: Rhabdomyolysis induced by exercise.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001308
database cross reference: HP:0009045
hasExactSynonym: Rhabdomyolysis with Exercise

Peripheral Neuropathy
type: Class
subclass of: Abnormal Nervous System Morphology
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Personal Medical History
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Patient Symptom Report
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Test
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Clinical Neuropathy Assessment
subclass of: Restriction
  on property: treated with
  some values from: Diet, Food, and Nutrition
subclass of: Restriction
  on property: treated with
  some values from: Surgery
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
definition: Peripheral neuropathy is a general term for any disorder of the peripheral nervous system.
is characterised by: Symptoms depend on which nerve is damaged, and whether the damage affects one nerve, several nerves, or the whole body. Pain and numbness: Tingling or burning in the arms and legs may be an early sign of nerve damage. These feelings often start in your toes and feet. You may have deep pain. This often happens in the feet and legs. You may lose feeling in your legs and arms. Because of this, you may not notice when you step on something sharp. You may not notice when you touch something that is too hot or cold, like the water in a bathtub. You may not know when you have a small blister or sore on your feet. Numbness may make it harder to tell where your feet are moving and can cause a loss of balance. Muscle problems: Damage to the nerves can make it harder to control muscles. It can also cause weakness. You may notice problems moving a part of your body. You may fall because your legs buckle. You may trip over your toes. Doing tasks such as buttoning a shirt may be harder. You may also notice that your muscles twitch or cramp. Your muscles may become smaller. Problems with body organs: People with nerve damage may have problems digesting food. You may feel full or bloated and have heartburn after eating only a little food. Sometimes you may vomit food that has not been digested well. You may have either loose stools or hard stools. Some people have problems swallowing. Damage to the nerves to your heart may cause you to feel light-headed, or faint, when you stand up. Angina is the warning chest pain for heart disease and heart attack. Nerve damage may "hide" this warning sign. You should learn other warning signs of a heart attack. They are sudden fatigue, sweating, shortness of breath, nausea, and vomiting.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000884
dc:source: 000593.htm
database cross reference: HP:0009830
hasExactSynonym: Peripheral Nerve Damage
hasExactSynonym: Peripheral Neuritis

Facial Nerve Palsy
type: Class
subclass of: Abnormality of the Face
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Complete Blood Count
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Magnetic Resonance Imaging
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Personal Medical History
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Patient Symptom Report
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Test
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Physical Examination
subclass of: Restriction
  on property: treated with
  some values from: Occupational Therapy
subclass of: Restriction
  on property: treated with
  some values from: Physiotherapy
subclass of: Restriction
  on property: treated with
  some values from: Surgery
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: diagnosed by
  some values from: Seizure
definition: Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
curator note: - Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001315
database cross reference: HP:0010628
hasExactSynonym: Bell's Palsy
hasExactSynonym: Cranial Nerve VII Palsy
hasExactSynonym: Facial Muscle Weakness of Muscles Innervated by CN VII
hasExactSynonym: Facial Nerve Paralysis
hasExactSynonym: Facial Palsy
hasExactSynonym: Facial Paralysis
hasExactSynonym: Seventh Cranial Nerve Palsy
hasExactSynonym: VIIth Cranial Nerve Palsy

Abnormal Circulating Protein Level
type: Class
subclass of: Abnormal Circulating Metabolite Concentration
definition: An abnormal level of a circulating protein in the blood.
definition source: HP:0010876
existence in other ontologies: Sufficient
previous identifier: SCDO:1000438
database cross reference: HP:0010876
hasExactSynonym: Abnormality of Circulating Protein Level
hasExactSynonym: Blood Protein Disease
hasExactSynonym: Serum Protein Abnormality

Osteonecrosis
type: Class
subclass of: Abnormality of the Skeletal System
subclass of: Quality of Life Related SCD Symptoms and Complications
subclass of: Restriction
  on property: treated with
  some values from: Analgesic
subclass of: Restriction
  on property: treated with
  some values from: Surgery
subclass of: Restriction
  on property: caused by
  some values from: Vaso-Occlusion
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.
curator note: No one is sure what causes the disease. Risk factors include: -- -- Long-term steroid treatment -- Alcohol abuse -- Joint injuries -- Having certain diseases, including arthritis and cancer -- Doctors use imaging tests and other tests to diagnose osteonecrosis. -- -- Treatments include medicines, using crutches, limiting activities that put weight on the affected joints, electrical stimulation and surgery.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000841
dc:source: http://purl.bioontology.org/ontology/MEDLINEPLUS/C0029445
database cross reference: HP:0010885
hasExactSynonym: AVN
hasExactSynonym: Aseptic Bone Necrosis
hasExactSynonym: Aseptic necrosis
hasExactSynonym: Avascular Bone Necrosis
hasExactSynonym: Avascular Necrosis
hasExactSynonym: Avascular Necrosis (AVN)
hasExactSynonym: Bone Infarction
hasExactSynonym: Bone Infarcts
hasExactSynonym: Bone Necrosis
hasExactSynonym: Ischemic Bone Necrosis
hasExactSynonym: Osteochondronecrosis
comment: The interruption of the blood supply may have many different causes such as rapid growth, heredity causes, trauma or overuse, anatomic conformation, dietary imbalances or secondary effects of other diseases.

Increased Bone Mineral Density
type: Class
subclass of: Abnormality of the Skeletal System
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.
curator note: Provide source for additional info.
is caused by: Ischemia, chronic infection, and tumor formation, osteoarthritis, osteoma, hepatitis C, . May be caused by faulty bone resorption as a result of some abnormality involving osteoclasts.
is characterised by: An increased whiteness (density) of affected bones.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000629
database cross reference: HP:0011001
hasExactSynonym: Bone Sclerosis
hasExactSynonym: Increased Bone Density
hasExactSynonym: Osteosclerosis
hasExactSynonym: Osteosclerosis of Bones

Age of Onset
type: Class
subclass of: Association
definition: The age group in which disease manifestations appear.
existence in other ontologies: Sufficient
previous identifier: SCDO:0003913
database cross reference: HP:0011007

Abnormal Glucose Homeostasis
type: Class
subclass of: Abnormality of Metabolism/Homeostasis
definition: Abnormality of glucose homeostasis.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000283
database cross reference: HP:0011014

Abnormal Cardiovascular System Physiology
type: Class
subclass of: Abnormality of Cardiovascular System
definition: Abnormal functionality of the cardiovascular system.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000368
database cross reference: HP:0011025

Hypovolemia
type: Class
subclass of: Abnormal Cardiovascular System Physiology
definition: A decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood.
existence in other ontologies: Sufficient
previous identifier: SCDO:0003035
database cross reference: HP:0011106
hasExactSynonym: Depleted Blood Volume

Abnormality of Skin Morphology
type: Class
subclass of: Abnormality of the Skin
definition: Any morphological abnormality of the skin.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000374
database cross reference: HP:0011121

Abnormality of Skin Physiology
type: Class
subclass of: Abnormality of the Skin
definition: Any abnormality of the physiological function of the skin.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000375
database cross reference: HP:0011122

Skin Inflammation
type: Class
subclass of: Abnormality of Skin Physiology
definition: The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001071
database cross reference: HP:0011123
hasExactSynonym: Abnormal Tendency to Infections of the Skin
hasExactSynonym: Dermatitis
hasExactSynonym: Inflammatory Abnormality of the Skin
hasExactSynonym: Inflammatory Skin Disease
hasExactSynonym: Maculopapular Rash

Caesarian Section
type: Class
subclass of: Abnormal Delivery
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy).
existence in other ontologies: Sufficient
previous identifier: SCDO:0000168
database cross reference: HP:0011410

Shoulder Dystocia
type: Class
subclass of: Abnormal Delivery
definition: Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001045
database cross reference: HP:0011413

Arrhythmia
type: Class
subclass of: Abnormal Cardiovascular System Physiology
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
definition: Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
existence in other ontologies: Sufficient
previous identifier: SCDO:0009619
database cross reference: HP:0011675
hasExactSynonym: Abnormal Heart Rate
hasExactSynonym: Abnormality of Cardiac Conduction
hasExactSynonym: Arrhythmias
hasExactSynonym: Cardiac Arrhythmia
hasExactSynonym: Cardiac Arrhythmias
hasExactSynonym: Cardiac Conduction Abnormalities
hasExactSynonym: Cardiac Conduction Defects
hasExactSynonym: Cardiac Rhythm Disturbances
hasExactSynonym: Heart Rhythm Disorders
hasExactSynonym: Irregular Heart Beat
hasExactSynonym: Irregular Heartbeat

Cerebellar Hemorrhage
type: Class
subclass of: Intracranial Hemorrhage
definition: Hemorrhage into the parenchyma of the cerebellum.
curator note: Need to include this term mentioned here to the SCDO: -- obstructive hydrocephalus
existence in other ontologies: Sufficient
previous identifier: SCDO:0000201
database cross reference: HP:0011695

Pica
type: Class
subclass of: Behavioural Abnormality
subclass of: Quality of Life Related SCD Symptoms and Complications
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
definition: An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000904
database cross reference: HP:0011856

Sciatica
type: Class
subclass of: Back Pain
subclass of: Restriction
  on property: treated with
  some values from: Analgesic
subclass of: Restriction
  on property: treated with
  some values from: Anti-Inflammatory Agent
subclass of: Restriction
  on property: treated with
  some values from: Physiotherapy
subclass of: Restriction
  on property: treated with
  some values from: Surgery
definition: Pain in the lower back and hip radiating in the distribution of the sciatic nerve.
curator note: Provide source for additional info. Terms to add to therapeutics for linking via "is treated with" obj property: Local heat, acupuncture, physical therapy, surgery
is caused by: Compression of a spinal nerve root by disc or arthritic spur, degenerative changes involvind main structures, disc protrusion, congenital abnormalities of the bony spinal column, infection, inflammation, neoplasm, vascular diseases.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001024
database cross reference: HP:0011868

Abnormal Platelet Count
type: Class
subclass of: Abnormal Thrombocyte Morphology
definition: Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000617
database cross reference: HP:0011873

Hyphema
type: Class
subclass of: Abnormality of the Eye
subclass of: Abnormal Cardiovascular System Physiology
subclass of: Ophthalmologic Complication
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Personal Medical History
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Physical Examination
subclass of: Restriction
  on property: treated with
  some values from: Surgery
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Bleeding in the anterior chamber of the eye.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000597
database cross reference: HP:0011886

Abnormal Leukocyte Count
type: Class
subclass of: SCDO_1000612
definition: Number of leukocytes per volume of blood beyond normal limits.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000613
database cross reference: HP:0011893
hasExactSynonym: Abnormal White Blood Cell Count

Neutrophilia
type: Class
subclass of: Abnormal Neutrophil Count
definition: Increased number of neutrophils circulating in blood.
definition source: HP:0011897
existence in other ontologies: Sufficient
previous identifier: SCDO:1000447
database cross reference: HP:0011897

Increased Hemoglobin F
type: Class
subclass of: Increased Hemoglobin Concentration
subclass of: Altered Level of Normal Hemoglobin in SCD
subclass of: Restriction
  on property: modifies
  some values from: Clinical Phenotype of Beta Thalassemia
subclass of: Restriction
  on property: modifies
  some values from: Phenotype of Sickle Cell Disease
definition: Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobiin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000888
database cross reference: HP:0011904
hasExactSynonym: Increased Haemoglobin F
hasExactSynonym: Persistence of Hemoglobin F
hasExactSynonym: Raised Hemoglobin F

Reduced Beta/Alpha Synthesis Ratio
type: Class
subclass of: Imbalanced Hemoglobin Synthesis
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: Beta Thalassemia Mutation
definition: A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001709
database cross reference: HP:0011906
hasExactSynonym: Increased Alpha/Beta Synthesis Ratio

Reduced Alpha/Beta Synthesis Ratio
type: Class
subclass of: Imbalanced Hemoglobin Synthesis
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: Alpha-Globin Locus Deletion
definition: A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia.
existence in other ontologies: Sufficient
previous identifier: SCDO:0006404
database cross reference: HP:0011907
hasExactSynonym: Increased Beta/Alpha Synthesis Ratio

Bronchiolitis
type: Class
subclass of: Abnormality of the Respiratory System
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: Inflammation of the bronchioles.
existence in other ontologies: Sufficient
previous identifier: SCDO:0005490
database cross reference: HP:0011950

Abnormal Neutrophil Count
type: Class
subclass of: Abnormality of Neutrophils
subclass of: Abnormality of the Immune System
definition: A deviation from the normal range of neutrophil cell counts in the circulation.
definition source: HP:0011991
existence in other ontologies: Sufficient
previous identifier: SCDO:1000446
database cross reference: HP:0011991
hasExactSynonym: Abnormal Neutrophil Cell Number

Abnormal Circulating Creatinine Level
type: Class
subclass of: Abnormal Circulating Nitrogen Compound Concentration
definition: An abnormal concentration of creatinine in the blood.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000541
database cross reference: HP:0012100
hasExactSynonym: Abnormal Blood Creatinine Level
hasExactSynonym: Abnormal Serum Creatinine Level
hasExactSynonym: Creatinine Levels Abnormal

Decreased Serum Creatinine
type: Class
subclass of: Abnormal Circulating Creatinine Level
definition: An abnormally reduced amount of creatinine in the blood.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000648
database cross reference: HP:0012101
hasExactSynonym: Low Blood Creatinine
hasExactSynonym: Low Serum Creatinine
hasExactSynonym: Reduced Creatinine Levels

Onychomycosis
type: Class
subclass of: Fungal Infection
subclass of: Restriction
  on property: treated with
  some values from: Antifungal
subclass of: Restriction
  on property: treated with
  some values from: Surgery
definition: A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000831
dc:source: Medscape: Onychomycosis: Author: Antonella Tosti, MD; Chief Editor: Dirk M Elston, MD et al..
database cross reference: HP:0012203
comment: has disease stage: Distal lateral subungual onychomycosis (DLSO), White superficial onychomycosis (WSO), Proximal subungual onychomycosis (PSO), Endonyx onychomycosis (EO), Candidal onychomycosis. Is characterised by: Disfigured nails, pain, paraesthesia, loss of dexterity, difficulty walking, standing, exercise.

Cerebrospinal Fluid Pleocytosis
type: Class
subclass of: Abnormality of the Cerebrum
definition: An increased white blood cell count in the cerebrospinal fluid.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000212
database cross reference: HP:0012229
hasExactSynonym: CSF Pleocytosis
hasExactSynonym: Increased Leukocyte Count in CSF

Abnormal Reproductive System Morphology
type: Class
subclass of: Abnormality of the Genital System
definition: A structural or developmental anomaly of any of the tissues involved in the genital system.
existence in other ontologies: Sufficient
previous identifier: SCDO:0009817
database cross reference: HP:0012243
hasExactSynonym: Abnormal Genital System Morphology

Morbilliform Rash
type: Class
subclass of: Abnormality of Skin Physiology
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
definition: An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000770
database cross reference: HP:0012282
comment: A morbilliform rash is said to resemble the rash of measles, rubella or scarlet fever, thus mimicking viral and bacterial exanthemas.

Pyelonephritis
type: Class
subclass of: Nephritis
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.
existence in other ontologies: Sufficient
previous identifier: SCDO:0005758
database cross reference: HP:0012330

Abnormal Enzyme/Coenzyme Activity
type: Class
subclass of: Abnormality of Metabolism/Homeostasis
definition: An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000665
database cross reference: HP:0012379

Hypoxemia
type: Class
subclass of: Abnormal Blood Gas Level
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: An abnormally low level of blood oxygen.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000604
database cross reference: HP:0012418
hasExactSynonym: Decreased Partial Pressure of Oxygen
hasExactSynonym: Low Blood Oxygen Level

Atrophic Brain
type: Class
subclass of: Abnormal Nervous System Morphology
definition: Partial or complete wasting (loss) of brain tissue that was once present.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000089
database cross reference: HP:0012444
hasExactSynonym: Brain Atrophy
hasExactSynonym: Brain Degeneration
hasExactSynonym: Brain Wasting

Elevated Hepatic Iron Concentration
type: Class
subclass of: Abnormality of the Liver
subclass of: Hepatic Complication
definition: An increased level of iron in liver tissues.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000425
database cross reference: HP:0012465
hasExactSynonym: Increased Iron Concentration in Liver
hasExactSynonym: Increased Liver Iron Level
comment: This abnormality can be measured by liver biopsy or by hepatic magnetic resonance imaging. Equivalents

Chronic Pain
type: Class
subclass of: Pain
subclass of: Chronic Phenotype
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001415
database cross reference: HP:0012532
hasExactSynonym: Long-Lasting Pain

Mesangial Hypercellularity
type: Class
subclass of: Abnormality of the Kidney
definition: Increased numbers of mesangial cells per glomerulus, defined as four or more nuclei in a peripheral mesangial segment.
existence in other ontologies: Sufficient
previous identifier: SCDO:0006481
database cross reference: HP:0012574
hasExactSynonym: Mesangial Proliferation

Macroscopic Hematuria
type: Class
subclass of: Hematuria
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
definition: Hematuria that is visible upon inspection of the urine.
existence in other ontologies: Sufficient
previous identifier: SCDO:0008145
database cross reference: HP:0012587
hasExactSynonym: Bloody Urine
hasExactSynonym: Gross Hematuria

Low Level Albuminuria
type: Class
subclass of: Albuminuria
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urine Albumin Concentration
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urine Albumin Excretion Rate
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urine Albumin-Creatinine Ratio
definition: The presence of mildly increased concentrations of albumin in the urine (in adults, 30-150 mg per day).
definition source: https://www.phenxtoolkit.org/protocols/view/141501
definition source: http://patient.info/doctor/microalbuminuria
existence in other ontologies: Sufficient
previous identifier: SCDO:0000764
dc:source: Chronic kidney disease: early identification and management of chronic kidney disease in adults in primary and secondary care; NICE Clinical Guidelines (July 2014)
database cross reference: HP:0012594
hasExactSynonym: Micro-albuminuria
hasExactSynonym: Microalbuminuria
hasExactSynonym: Mildly Increased Albuminuria
hasExactSynonym: Moderately Increased Albuminuria
comment: The criteria for clinically significant proteinuria have been changed from an albumin-creatinine ratio (ACR) of 30 mg/mmol or more to 3 mg/mmol or more. This is because there is evidence that the risk of adverse outcomes is a continuum and starts at an ACR well below 30 mg/mmol.

Abnormal Nervous System Physiology
type: Class
subclass of: Abnormality of the Nervous System
definition: A functional anomaly of the nervous system.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000765
database cross reference: HP:0012638
hasExactSynonym: Abnormality of Nervous System Physiology

Abnormal Nervous System Morphology
type: Class
subclass of: Abnormality of the Nervous System
definition: A structural anomaly of the nervous system.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000764
database cross reference: HP:0012639
hasExactSynonym: Abnormal Shape of Nervous System
hasExactSynonym: Abnormality of Nervous System Morphology

Cough
type: Class
subclass of: Abnormality of the Respiratory System
definition: A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
existence in other ontologies: Sufficient
previous identifier: SCDO:0004069
database cross reference: HP:0012735

Neurodevelopmental Abnormality
type: Class
subclass of: Abnormal Nervous System Physiology
definition: A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. This term should be used to describe abnormalities with onset in the developmental period.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000800
database cross reference: HP:0012759

Myocarditis
type: Class
subclass of: Abnormal Cardiovascular System Morphology
definition: Inflammation of the myocardium.
existence in other ontologies: Sufficient
previous identifier: SCDO:0004203
database cross reference: HP:0012819
comment: Myocarditis can be caused by a variety of bacterial and viral infections. Enteroviruses, especially coxsackievirus B, are often associated with acute myocarditis. However, with the advent of genetic analysis, adenovirus and parvovirus B19 have also been found to be frequent causes of myocarditis. Exposure to drug treatment, physical stimuli such as radiation and heat, metabolic disorders, immune disorders, and pregnancy are also causes of myocarditis. Many cases of myocarditis are idiopathic. Myocarditis presents with non-specific symptoms including chest pain, dyspnoea, and palpitations, and thus often mimics more common disorders such as coronary artery disease. In some patients, cardiac MRI and endomyocardial biopsy can help identify myocarditis, predict risk of cardiovascular events, and guide treatment.

Abnormal Erythrocyte Physiology
type: Class
subclass of: Abnormality of Blood and Blood-Forming Tissues
definition: Any functional abnormality of erythrocytes (red-blood cells).
existence in other ontologies: Sufficient
previous identifier: SCDO:1000286
database cross reference: HP:0020054

Abnormal Red Blood Cell Count
type: Class
subclass of: Abnormal Erythrocyte Morphology
definition: Any deviation from the normal number of red blood cells per volume in the circulation.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000608
database cross reference: HP:0020058
hasExactSynonym: Abnormal RBC Count

Increased Red Blood Cell Count
type: Class
subclass of: Abnormal Red Blood Cell Count
definition: An abnormal elevation above the normal number of red blood cells per volume in the circulation.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000610
database cross reference: HP:0020059
hasExactSynonym: Increased RBC Count

Decreased Red Blood Cell Count
type: Class
subclass of: Abnormal Red Blood Cell Count
definition: An abnormal reduction below the normal number of red blood cells per volume in the circulation.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000609
database cross reference: HP:0020060
hasExactSynonym: Decreased RBC Count

Abnormal Hemoglobin Concentration
type: Class
subclass of: Abnormal Erythrocyte Morphology
subclass of: Protein Phenotype
definition: Any deviation from the normal concentration of hemoglobin in the blood.
curator note: It might seem wrong to place this class here, but note that a change in hemoglobin concentration affects the size/volume and hence morphology of erythrocytes. Perhaps add sub-classes "Increased hemoglobin concentration" and "Decreased hemoglobin concentration" from HPO...their descriptions don't seem quite right though (should it not rather be "in the erythrocytes", not "in the circulation"?
existence in other ontologies: Sufficient
previous identifier: SCDO:1000186
creator: SCDO (Jade Hotchkiss)
database cross reference: HP:0020061

Decreased Hemoglobin Concentration
type: Class
subclass of: Abnormal Hemoglobin Concentration
definition: An abnormal reduction below normal hemoglobin concentration in the circulation.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000377
database cross reference: HP:0020062

Increased Hemoglobin Concentration
type: Class
subclass of: Abnormal Hemoglobin Concentration
definition: An abnormal elevation above normal hemoglobin concentration in the circulation.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000378
database cross reference: HP:0020063

Abnormality of the Digestive System
type: Class
subclass of: Abnormal Phenotype
definition: Any anomaly of the digestive system, a collection of organs that is made up of the gastrointestinal tract and the liver, pancreas, and gallbladder. The gastrointestinal tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus, including the mouth, esophagus, stomach, small intestine, large intestine and anus.
definition source: Kaeda JS, Roper D, Srivastava P, et al. Severe hemolytic anemia associated with the homozygous state for an unstable hemoglobin variant (Hb Bushwick). Blood 1995; 86:1977.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000335
database cross reference: HP:0025031

Abnormal Mean Corpuscular Volume
type: Class
subclass of: Abnormal Erythrocyte Morphology
definition: A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000624
database cross reference: HP:0025065
hasExactSynonym: Abnormal Erythrocyte Volume
hasExactSynonym: Abnormal MCV

Decreased Mean Corpuscular Volume
type: Class
subclass of: Abnormal Mean Corpuscular Volume
definition: A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).
existence in other ontologies: Sufficient
previous identifier: SCDO:1000625
database cross reference: HP:0025066
hasExactSynonym: Decreased MCV
hasExactSynonym: Low MCV
hasExactSynonym: Microcytosis
hasExactSynonym: Reduced Erythrocyte Volume

Constitutional Symptom
type: Class
subclass of: Abnormal Phenotype
definition: A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000269
database cross reference: HP:0025142
hasExactSynonym: Systemic Symptom

Increased Lactate Dehydrogenase Level
type: Class
subclass of: Abnormal Lactate Dehydrogenase Level
definition: An elevated level of the enzyme lactate dehydrogenase in serum.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000652
database cross reference: HP:0025435
hasExactSynonym: High Lactate Dehydrogenase Level

Abnormal Mean Corpuscular Hemoglobin Concentration
type: Class
subclass of: Abnormal Erythrocyte Morphology
definition: Deviation from the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices.
definition source: MP_0005640
existence in other ontologies: Sufficient
previous identifier: SCDO:1000631
database cross reference: HP:0025546
hasExactSynonym: Abnormal MCHC
hasExactSynonym: Abnormal Mean Cell Haemoglobin Concentration
hasExactSynonym: Abnormal Mean Cell Hb Concentration
hasExactSynonym: Abnormal Mean Cell Hemoglobin Concentration
hasExactSynonym: Abnormal Mean Corpuscular Haemoglobin Concentration
hasExactSynonym: Abnormal Mean Corpuscular Hb Concentration

Decreased Mean Corpuscular Hemoglobin Concentration
type: Class
subclass of: Abnormal Mean Corpuscular Hemoglobin Concentration
definition: Less than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices.
definition source: MP_0005642
existence in other ontologies: Sufficient
previous identifier: SCDO:1000635
database cross reference: HP:0025547
hasExactSynonym: Decreased MCHC
hasExactSynonym: Decreased Mean Corpuscular Haemoglobin Concentration
hasExactSynonym: Low MCHC
hasExactSynonym: Low Mean Corpuscular Haemoglobin Concentration
hasExactSynonym: Low Mean Corpuscular Hemoglobin Concentration
hasExactSynonym: Reduced Mean Corpuscular Haemoglobin Concentration
hasExactSynonym: Reduced Mean Corpuscular Hemoglobin Concentration

Increased Mean Corpuscular Hemoglobin Concentration
type: Class
subclass of: Abnormal Mean Corpuscular Hemoglobin Concentration
definition: Greater than the normal Hgb/Hct; the average hemoglobin concentration in a given volume of packed red cells, calculated from the hemoglobin therein and the hematocrit, in erythrocyte indices.
definition source: MP_0005641
existence in other ontologies: Sufficient
previous identifier: SCDO:1000636
database cross reference: HP:0025548
hasExactSynonym: High MCHC
hasExactSynonym: High Mean Corpuscular Haemoglobin Concentration
hasExactSynonym: High Mean Corpuscular Hemoglobin Concentration
hasExactSynonym: Increased MCHC
hasExactSynonym: Increased Mean Corpuscular Haemoglobin Concentration

Endometritis
type: Class
subclass of: Abnormality of the Genital System
definition: Inflammation of the inner lining of the uterus
definition: Local accumulation of fluid, plasma proteins, and leukocytes in the endometrium.
curator note: Provide source for additional info.
definition source: http://purl.obolibrary.org/obo/MP_0009360
existence in other ontologies: Sufficient
previous identifier: SCDO:0000433
database cross reference: HP:0025636
hasExactSynonym: Endometrial Inflammation
hasExactSynonym: Endometrium Inflammation

Brain Abscess
type: Class
subclass of: Abnormality of the Immune System
subclass of: Abnormal Nervous System Morphology
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Complete Blood Count
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Magnetic Resonance Imaging
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Culture
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Chest X-Ray
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Electroencephalography
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Radiography
subclass of: Restriction
  on property: treated with
  some values from: Antifungal
subclass of: Restriction
  on property: treated with
  some values from: Antibiotic
subclass of: Restriction
  on property: treated with
  some values from: Surgery
definition: A collection of pus, immune cells, and other material in the brain.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000159
database cross reference: HP:0030049
comment: Brain abscess usually results from a bacterial or fungal infection.

Narcolepsy
type: Class
subclass of: Behavioural Abnormality
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Patient Symptom Report
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Physical Examination
definition: An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000790
database cross reference: HP:0030050

Sickled Erythrocyte
type: Class
subclass of: Poikilocytosis
definition: An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains).
existence in other ontologies: Sufficient
previous identifier: SCDO:1000246
database cross reference: HP:0030058
hasExactSynonym: Banana Cell
hasExactSynonym: Drepanocyte
hasExactSynonym: Sickle Cell
hasExactSynonym: Sickled Erythrocyte
hasExactSynonym: Sickled Red Blood Cell

Endometriosis
type: Class
subclass of: Abnormal Reproductive System Morphology
subclass of: Restriction
  on property: treated with
  some values from: Antibiotic
subclass of: Restriction
  on property: treated with
  some values from: Analgesic
subclass of: Restriction
  on property: treated with
  some values from: Surgery
definition: The growth of endometrial tissue outside the uterus.
curator note: Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000432
database cross reference: HP:0030127

Hepatic Vein Thrombosis
type: Class
subclass of: Abnormal Thrombosis
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
definition: An obstruction in the veins of the liver caused by a blood clot (thrombosis).
existence in other ontologies: Sufficient
previous identifier: SCDO:0001673
database cross reference: HP:0030243
hasExactSynonym: Blood Clot in Liver Vein

Axiom
annotated source: Hepatic Vein Thrombosis
annotated property: hasExactSynonym
annotated target: Blood Clot in Liver Vein
has_synonym_type: SCDO_1000291

Mesenteric Venous Thrombosis
type: Class
subclass of: Abnormal Thrombosis
definition: A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine).
existence in other ontologies: Sufficient
previous identifier: SCDO:0004437
database cross reference: HP:0030248
hasExactSynonym: Blood Clot in Mesenteric Vein

Abnormal Cardiovascular System Morphology
type: Class
subclass of: Abnormality of Cardiovascular System
definition: Any structural anomaly of the heart and great vessels.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000369
database cross reference: HP:0030680

Intestinal Perforation
type: Class
subclass of: SCDO_1000433
definition: A hole (perforation) in the wall of the intestine.
definition source: HP:0031368
existence in other ontologies: Sufficient
previous identifier: SCDO:1000434
database cross reference: HP:0031368

Ectopic Pregnancy
type: Class
subclass of: Pregnancy Complication
subclass of: SCDO_1000371
definition: A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube).
existence in other ontologies: Sufficient
previous identifier: SCDO:0000413
database cross reference: HP:0031456

Elevated Serum Aspartate Aminotransferase
type: Class
subclass of: Abnormal Enzyme/Coenzyme Activity
definition: An abnormally high concentration in the circulation of aspartate aminotransferase (AST).
existence in other ontologies: Sufficient
previous identifier: SCDO:1000661
database cross reference: HP:0031956
hasExactSynonym: Aspartate Aminotransferase Increased
hasExactSynonym: Elevated Serum AST
hasExactSynonym: Elevated Serum Glutamic Oxaloacetic Transaminase
hasExactSynonym: Increased Aspartate Aminotransferase

Elevated Serum Alanine Aminotransferase
type: Class
subclass of: Abnormal Enzyme/Coenzyme Activity
definition: An abnormally high concentration in the circulation of alanine aminotransferase (ALT), which is an enzyme that catalyzes the transfer of amino groups to form the hepatic metabolite oxaloacetate. ALT is found abundantly in the cytosol of the hepatocyte. ALT activity in the liver is about 3000 times that of serum activity. Thus, in the case of hepatocellular injury or death, release of ALT from damaged liver cells increases measured ALT activity in the serum. Although it is generally thought to be specific to the liver, it is also found in the kidney, and, in much smaller quantities, in heart and skeletal muscle cells.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000659
database cross reference: HP:0031964
hasExactSynonym: Alanine Aminotransferase Increased
hasExactSynonym: Elevated Serum Glutamic-Pyruvic Transaminase
hasExactSynonym: Elevated serum ALT

Abnormal Circulating Metabolite Concentration
type: Class
subclass of: Abnormal Blood Homeostasis
definition: An abnormal level of an analyte measured in the blood.
definition source: HP:0032180
existence in other ontologies: Sufficient
previous identifier: SCDO:1000437
database cross reference: HP:0032180

ABO Blood Group
type: Class
subclass of: Biochemical Phenotype
definition: The ABO histo-blood group consists of two antigens (A and B antigens) and four blood types (types A, B, AB, and O). The A and B antigens are the product of the ABO gene and are autosomal codominant. The group O phenotype is an autosomal-recessive phenotype due to the homozygous inheritance of two null ABO alleles. Group O individuals express the H antigen, the biosynthetic precursor to A and B antigens. ABO, therefore, is the blood type, whereas A, B, and H refer to the antigens. The ABO system consists of A and B antigens and antibodies against these antigens.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000581
database cross reference: HP:0032224

Abnormal Lactate Dehydrogenase Level
type: Class
subclass of: Abnormal Enzyme/Coenzyme Activity
definition: A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000683
database cross reference: HP:0045040

Increased Hemoglobin A2
type: Class
subclass of: Increased Hemoglobin Concentration
subclass of: Altered Level of Normal Hemoglobin in SCD
definition: An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000630
database cross reference: HP:0045048
hasExactSynonym: Increased HbA2 Hemoglobin

Eclampsia
type: Class
subclass of: Pregnancy Complication
subclass of: SCDO_1000371
subclass of: Restriction
  on property: treated with
  some values from: Antihypertensive Agents
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urine Measurement
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000411
database cross reference: HP:0100601

Preeclampsia
type: Class
subclass of: Pregnancy Complication
subclass of: Comorbid Disease
subclass of: SCDO_1000371
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Pregnancy-induced hypertension in association with significant amounts of protein in the urine.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000918
database cross reference: HP:0100602
hasExactSynonym: Pre-Eclampsia

Myositis
type: Class
subclass of: Abnormality of the Immune System
subclass of: SCDO_1000268
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: A general term for inflammation of the muscles without respect to the underlying cause.
curator note: Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000785
database cross reference: HP:0100614
hasExactSynonym: Muscle Inflammation

Chest Pain
type: Class
subclass of: Pain
definition: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001988
database cross reference: HP:0100749
hasExactSynonym: Thoracic Pain

Hyperostosis
type: Class
subclass of: Abnormality of the Skeletal System
subclass of: Restriction
  on property: treated with
  some values from: Analgesic
subclass of: Restriction
  on property: treated with
  some values from: Anti-Inflammatory Agent
subclass of: Restriction
  on property: treated with
  some values from: Physiotherapy
subclass of: Restriction
  on property: treated with
  some values from: Surgery
definition: Excessive growth or abnormal thickening of bone tissue.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000591
database cross reference: HP:0100774
hasExactSynonym: Bone Hypertrophy
hasExactSynonym: Bone Overgrowth

Sepsis
type: Class
subclass of: Abnormality of the Immune System
subclass of: Infection
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Culture
subclass of: Restriction
  on property: treated with
  some values from: Antifungal
subclass of: Restriction
  on property: treated with
  some values from: Antibiotic
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Severe systemic inflammatory response to infection.
curator note: Perhaps remove here and only keep below "Abnormality of the Immune System"? Source needed for additional information. Perhaps include different types of sepsis (see under D018805 in MESH)?
existence in other ontologies: Sufficient
previous identifier: SCDO:0001039
database cross reference: HP:0100806
comment: caused by: Bacteria and fungus mainly characterised by: Systematic manifestations of inflammation has disease stage: Mild, moderate, severe

Glomerulopathy
type: Class
subclass of: Abnormality of the Kidney
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000459
database cross reference: HP:0100820
hasExactSynonym: Diseased Glomeruli
hasExactSynonym: Glomerulopathies

Skin Ulcer
type: Class
subclass of: Abnormality of Skin Morphology
subclass of: Quality of Life Related SCD Symptoms and Complications
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: A discontinuity of the skin exhibiting loss of the epidermis and often portions of the dermis and subcutaneous fat.
curator note: Find source for additional info
existence in other ontologies: Sufficient
previous identifier: SCDO:0001074
database cross reference: HP:0200042
hasExactSynonym: Open Skin Sore
hasExactSynonym: Skin Ulcers

Abnormal Cardiac Test
type: Class
subclass of: Abnormality of Cardiovascular System
definition: Abnormal test result of cardiovascular physiology.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000266
database cross reference: HP:0500015

Date of Signing Consent
type: Class
subclass of: SCDO_1000522
definition: A date specification that designates when an informed consent form was signed.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000531
database cross reference: ICO:0000036
hasExactSynonym: Date Subject Signed Consent
hasExactSynonym: Informed Consent Form Signing Date

Parental Consent
type: Class
subclass of: Proxy Consent
subclass of: Informed Consent
definition: An informed consent by the parent/guardian of a child or a minor to consent to give permission for the child/minor to be included in research.
definition source: http://bioportal.bioontology.org/ontologies/ICO
existence in other ontologies: Sufficient
previous identifier: SCDO:0009293
database cross reference: ICO:0000157
hasExactSynonym: Parental Informed Consent Process
hasExactSynonym: Parental Permission
hasExactSynonym: Parental Permission Consent

Broad Consent
type: Class
subclass of: Informed Consent
definition: An informed consent for an unspecified range of future research subject to a few content and/or process restrictions.
existence in other ontologies: Sufficient
previous identifier: SCDO:0008115
database cross reference: ICO:0000179

Data Sharing
type: Class
subclass of: Research
definition: A planned process in which data possessed by one person or organization is shared with one or more other persons or organizations.
existence in other ontologies: Sufficient
previous identifier: SCDO:0009586
database cross reference: ICO:0000228
hasExactSynonym: Act of Data Sharing

Participant Withdrawal Process
type: Class
subclass of: SCDO_1000422
definition: A directive information entity that prescribes some process for withdraw from another planned process.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000428
database cross reference: ICO:0000255
hasExactSynonym: Withdrawal from Participation Directive

Description of Future Biospecimen Use
type: Class
subclass of: Description of Future Use
definition: A descriptive information content entity that describes how biospecimens will be used.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000456
database cross reference: ICO:0000278

Data Sharing Agreement
type: Class
subclass of: SCDO_1000406
definition: A directive information entity that prescribes the information that is permitted to be shared or the processes for sharing that information.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000407
database cross reference: ICO:0000293
hasExactSynonym: Data Sharing Directive

Description of Future Data Use
type: Class
subclass of: Description of Future Use
definition: A descriptive information content entity that describes how data will be used.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000453
database cross reference: ICO:0000304

Description of Future Use
type: Class
subclass of: SCDO_1000422
definition: A descriptive information content entity that describes future use of material or information.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000454
database cross reference: ICO:0000305

Malaria Chemoprophylaxis
type: Class
subclass of: Malaria Prophylaxis
definition: The use of antimalarial drugs for the prevention of infection.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000668
database cross reference: IDOMAL:0000122

Spleen Examination
type: Class
subclass of: Physical Examination
definition: Any process carried out to determine the condition of a patient's spleen.
curator note: Needs relating to Splenomegaly phenotype.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001101
database cross reference: IDOMAL:0000592

Mutation
type: Class
subclass of: Genetic Variation
subclass of: Restriction
  on property: modifies
  some values from: Gene Product
definition: A permanent change in the DNA sequence of a gene that alters the genetic message carried by that gene.
curator note: Perhaps include here an "Alpha Thalassemia Mutation" sub-class? Could use the current description for "Alpha-Globin Locus Deletion" and instead give "Alpha-Globin Locus Deletion" a description similar to that of "Beta-Globin Locus Deletion"
existence in other ontologies: Sufficient
previous identifier: SCDO:0001370
database cross reference: IDOMAL:50000026

Microbiome
type: Class
subclass of: Biological Disease Modifier
definition: An organism population whose members are particpating in non-parasitic symbiosis with a particular host.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000755
database cross reference: IDO:0000515
hasExactSynonym: Normal Resident Microbiota Population
hasExactSynonym: Normal Resident Microflora Population

Antifungal
type: Class
subclass of: Drug
subclass of: Symptomatic Therapeutics
subclass of: Restriction
  on property: treats
  some values from: Otitis Media
subclass of: Restriction
  on property: treats
  some values from: Bacterial Endocarditis
subclass of: Restriction
  on property: treats
  some values from: Nail Dystrophy
subclass of: Restriction
  on property: treats
  some values from: Onychomycosis
subclass of: Restriction
  on property: treats
  some values from: Brain Abscess
subclass of: Restriction
  on property: treats
  some values from: Sepsis
definition: A material entity bearing an antifungal disposition.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000019
database cross reference: IDO:0000560

Infection
type: Class
subclass of: Disease
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A part of an extended organism that itself has as part a population of one or more infectious agents and that (1) exists as a result of processes initiated by members of the infectious agent population and is (2) clinically abnormal in virtue of the presence of this infectious agent population, or (3) has a disposition to bring clinical abnormality to immunocompetent organisms of the same Species as the host (the organism corresponding to the extended organism) through transmission of a member or offspring of a member of the infectious agent population.
curator note: Perhaps use Bacterial Infection and Viral Infection as modifiers? Include here "transfusion-related hepatitis infections" and or "viral hepatitis" (See paper "Liver involvement in sickle cell disease" by Emel GÜRKAN et al.)
existence in other ontologies: Sufficient
previous identifier: SCDO:0000635
database cross reference: IDO:0000586

Skin Lesions
type: Class
subclass of: Skin Inflammation
definition: Focal pathological and/or inflammatory changes characterized by alteration in the size, shape and organization of the cellular components of the skin.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001072
database cross reference: MP:0001212

Abnormal Mean Corpuscular Hemoglobin
type: Class
subclass of: Abnormal Erythrocyte Morphology
definition: Anomalies in the average levels of hemoglobin contained in an erythrocyte.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000632
database cross reference: MP:0001589
hasExactSynonym: Abnormal MCH
hasExactSynonym: Abnormal Mean Cell Hemoglobin
hasExactSynonym: Abnormal Mean Cell Hemoglobin Level
hasExactSynonym: Abnormal Mean Corpuscular Hemoglobin Level

Diuresis
type: Class
subclass of: Abnormality of the Urinary System
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: Increased volume of urine produced and excreted.
curator note: Provide source for additional info.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000395
database cross reference: MP:0001762
hasExactSynonym: Increased Urine Output
hasExactSynonym: Increased Urine Volume
hasExactSynonym: Polyuria
comment: Clinicians sometimes mistakenly label increased urinary frequency as polyuria (increased urine output); Though rarely used, pollakisuria (or pollakiuria) is the correct term for increased frequency of urination.

Impaired Wound Healing
type: Class
subclass of: Abnormality of Metabolism/Homeostasis
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: Reduced ability or inability to self-repair and close wounds.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000622
database cross reference: MP:0001792
hasExactSynonym: Delayed Wound Healing
hasExactSynonym: Impaired Wound Repair

Perinatal Death
type: Class
subclass of: Abnormality of Prenatal Development or Birth
definition: Death anytime within the perinatal period.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000883
database cross reference: MP:0002081
hasExactSynonym: Perinatal Lethality

Abnormal Lipid Homeostasis
type: Class
subclass of: Abnormality of Metabolism/Homeostasis
definition: Anomaly in the processes involved in the maintenance of an internal equilibrium of lipids in the fluids and tissues.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000284
database cross reference: MP:0002118

Abnormal Blood Gas Level
type: Class
subclass of: Abnormality of the Respiratory System
subclass of: Abnormal Blood Homeostasis
definition: Anomaly in the amount of oxygen and carbon dioxide in the blood.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000810
database cross reference: MP:0002329

Increased Susceptibility to Bacterial Infection
type: Class
subclass of: Abnormality of the Immune System
subclass of: Restriction
  on property: treated with
  some values from: Antibiotic
subclass of: Restriction
  on property: treated with
  some values from: Infection Prophylaxis
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Greater likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000632
database cross reference: MP:0002412
hasExactSynonym: Decreased Resistance to Bacterial infection
comment: Characterised by: Repeated/recurrent local or systemic bacterial infections. Caused by: Multifactorial generally factors ultimately cause impaired immunity.

Neuron Degeneration
type: Class
subclass of: Abnormal Nervous System Morphology
definition: A retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses.
curator note: Provide source for additional info.
has age of onset: Usually in the elderly persons. Aging associated with most disorders
is caused by: Multifactorial causes such as program cell death, genetic mutations, protein misfolding and intracellular mechanisms
is characterised by: Multiple disease entities such as alzhiemers disease, parkinsons disease , huntington's disease and amylotrophic lateral sclerosis
existence in other ontologies: Sufficient
previous identifier: SCDO:0000802
dc:source: http://www.neurodegenerationresearch.eu/about/what/
database cross reference: MP:0003224
hasExactSynonym: Nerve Degeneration
hasExactSynonym: Nerve Degenerations
hasExactSynonym: Neuron Degenerations

Metabolism/Homeostasis Phenotype
type: Class
subclass of: Phenotype
definition: The observable morphological and physiological characteristics related to a state of equilibrium in the body with respect to various functions and to chemical composition of the fluids and tissues or the processes that cause many of the chemical changes in living mammalian organisms that are manifested through development and lifespan.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000811
database cross reference: MP:0005376
hasExactSynonym: Homeostasis Phenotype
hasExactSynonym: Homeostasis/Metabolism Phenotype

Increased Body Temperature
type: Class
subclass of: Abnormal Body Temperature
definition: Greater than the level of heat natural to a living being.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000761
database cross reference: MP:0005533
hasExactSynonym: Raised Body Temperature

Decreased Body Temperature
type: Class
subclass of: Abnormal Body Temperature
definition: Less than the level of heat natural to a living being.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000762
database cross reference: MP:0005534
hasExactSynonym: Reduced Body Temperature

Abnormal Body Temperature
type: Class
subclass of: Abnormality of Metabolism/Homeostasis
definition: Deviation in the level of heat natural to a living being.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000760
database cross reference: MP:0005535

Increased Mean Corpuscular Hemoglobin
type: Class
subclass of: Abnormal Mean Corpuscular Hemoglobin
definition: Greater than the average levels of hemoglobin contained in an erythrocyte.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000634
database cross reference: MP:0005561
hasExactSynonym: High MCH
hasExactSynonym: High Mean Corpuscular Hemoglobin
hasExactSynonym: Increased MCH
hasExactSynonym: Increased Mean Cell Hemoglobin

Decreased Mean Corpuscular Hemoglobin
type: Class
subclass of: Abnormal Mean Corpuscular Hemoglobin
definition: Less than the average levels of hemoglobin contained in an erythrocyte.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000633
database cross reference: MP:0005562
hasExactSynonym: Decreased MCH
hasExactSynonym: Decreased Mean Cell Hemoglobin
hasExactSynonym: Low MCH
hasExactSynonym: Low Mean Corpuscular Hemoglobin

Abnormal Red Blood Cell Deformability
type: Class
subclass of: Abnormal Erythrocyte Physiology
definition: A measure (DImax) related to cell surface area, of the changeability of the membrane of circulating oxygen transporting cells as a function of physiologically relevant osmolality at a constant applied shear stress.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000277
database cross reference: MP:0009568

Abnormal Blood Homeostasis
type: Class
subclass of: Abnormality of Blood and Blood-Forming Tissues
subclass of: Abnormality of Metabolism/Homeostasis
definition: Anomaly in the processes involved in the maintenance of an internal equilibrium of various functions or chemical or protein composition of the blood.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000809
database cross reference: MP:0009642
hasExactSynonym: Abnormal Blood Chemistry
hasExactSynonym: Blood Chemistry Abnormalities

Abnormal Red Blood Cell Distribution Width
type: Class
subclass of: Abnormal Erythrocyte Morphology
definition: An anomaly in the coefficient of variance (reference range) of the red blood cell volume for an organism.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000639
database cross reference: MP:0010066
hasExactSynonym: Abnormal Erythrocyte Distribution Width
hasExactSynonym: Abnormal RDW

Increased Red Blood Cell Distribution Width
type: Class
subclass of: Abnormal Red Blood Cell Distribution Width
definition: Higher than normal coefficient of variance (reference range) of the red blood cell volume for an organism.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000641
database cross reference: MP:0010067
hasExactSynonym: High RCDW
hasExactSynonym: High RDW
hasExactSynonym: High Red Blood Cell Distribution Width
hasExactSynonym: Increased Erythrocyte Distribution Width
hasExactSynonym: Increased RCDW
hasExactSynonym: Increased RDW

Decreased Red Blood Cell Distribution Width
type: Class
subclass of: Abnormal Red Blood Cell Distribution Width
definition: Lower than normal coefficient of variance (reference range) of the red blood cell volume for an organism.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000640
database cross reference: MP:0010068
hasExactSynonym: Decreased Erythrocyte Distribution Width
hasExactSynonym: Decreased RCDW
hasExactSynonym: Decreased RDW
hasExactSynonym: Low RCDW
hasExactSynonym: Low RDW
hasExactSynonym: Low Red Blood Cell Distribution Width
hasExactSynonym: Reduced RCDW
hasExactSynonym: Reduced RDW
hasExactSynonym: Reduced Red Blood Cell Distribution Width

Hemolysis
type: Class
subclass of: Abnormal Erythrocyte Physiology
definition: Destruction of erythrocytes such that hemoglobin is released from the cells; may occur by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity.
existence in other ontologies: Sufficient
previous identifier: SCDO:0009017
database cross reference: MP:0010163
hasExactSynonym: Erythrocytolysis
hasExactSynonym: Erythrolysis
hasExactSynonym: Haematolysis
hasExactSynonym: Haemolysis
hasExactSynonym: Hematolysis
hasExactSynonym: Hemolyses

Abnormal Urine Amino Acid Level
type: Class
subclass of: Abnormal Urine Homeostasis
definition: Any anomaly in the amount in the urine of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000653
database cross reference: MP:0011468

Abnormal Urine Creatinine Level
type: Class
subclass of: Abnormal Urine Amino Acid Level
definition: Any change in the amount of creatinine in the urine
existence in other ontologies: Sufficient
previous identifier: SCDO:1000654
database cross reference: MP:0011469

Increased Urine Creatinine Level
type: Class
subclass of: Abnormal Urine Creatinine Level
definition: An increased amount of creatinine in the urine compared to the normal state.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000656
database cross reference: MP:0011470

Decreased Urine Creatinine Level
type: Class
subclass of: Abnormal Urine Creatinine Level
definition: a reduced amount of creatinine in the urine compared to the normal state
existence in other ontologies: Sufficient
previous identifier: SCDO:1000655
database cross reference: MP:0011471
hasExactSynonym: Low Urine Creatinine Level
hasExactSynonym: Reduced Urine Creatinine Level

Isosthenuria
type: Class
subclass of: Impaired Renal Concentrating Ability
definition: Inability of the kidneys to produce either a concentrated or a dilute urine; refers to a state in chronic renal disease in which the kidney cannot form urine with a higher or a lower specific gravity (concentration) than that of protein-free plasma; the specific gravity of the urine becomes fixed, irrespective of the fluid intake.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000667
database cross reference: MP:0013305
hasExactSynonym: Impaired Urine-Concentrating Ability
hasExactSynonym: Urine Concentrating Defect
comment: Urine specific gravity is similar to that of plasma (1.008-1.012).

Alcohol Intake
type: Class
subclass of: Health Behaviour
definition: A drinking behavior associated with the intake of alcohol.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000039
database cross reference: NBO:0000131
hasExactSynonym: Alcohol Consumption

Duloxetine
type: Class
subclass of: Drug
subclass of: Symptomatic Therapeutics
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A drug used to treat depression and peripheral neuropathy (pain, numbness, tingling, burning, or weakness in the hands or feet) that can occur with diabetes.
definition source: http://purl.obolibrary.org/obo/NCIT_C65495
existence in other ontologies: Sufficient
previous identifier: SCDO:0006467
dc:source: http://purl.bioontology.org/ontology/MESH/D000068736
database cross reference: NCIT:65495
hasExactSynonym: Cymbalta
hasExactSynonym: Duloxetine HCl
hasExactSynonym: N-methyl-3-(1-naphthalenyloxy)-3-(2-thiophene)propanamide

Retinal Examination
type: Class
subclass of: Ophthalmoscopy
definition: An examination of the retina of the eye using an ophthalmoscope.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0001009
database cross reference: NCIT:C101217
hasExactSynonym: Fundoscopy

Pulmonary Infiltrate
type: Class
subclass of: Abnormality of the Respiratory System
definition: A finding indicating the presence of an inflammatory or neoplastic cellular infiltrate in the lung parenchyma.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0007383
database cross reference: NCIT:C102531
hasExactSynonym: Lung Infiltrate

Patient Reported Outcomes Measurement Information System (PROMIS)
type: Class
subclass of: Quality of Life Measure
subclass of: SCDO_1000297
definition: A project to develop standards for the collection and analysis of patient-reported health status data using a system of highly reliable, precise measures for physical, mental, and social well-being. Patients are asked a series of rigorously reviewed questions covering common domains and metrics across differing conditions and treatments. The questions can be administered in short forms or adaptively through computerized adaptive testing and reports can be generated to allow clinicians to better understand how treatments might affect the quality of life of their patients.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0000871
dc:source: Bevans, M., Ross, A., & Cella, D. (2014). Patient-Reported Outcomes Measurement Information System (PROMIS): Efficient, standardized tools to measure self-reported health and quality of life. Nursing Outlook, 62, 339-345.
dc:source: Dampier C, Barry V, Gross HE, Lui Y, Thornburg CD, DeWalt DA, Reeve BB. (2016). Initial Evaluation of the Pediatric PROMIS® Health Domains in Children and Adolescents With Sickle Cell Disease. Pediatric Blood & Cancer. Feb 19. doi: 10.1002/pbc.25944.
dc:source: DeWitt, E. M., Barnett, K., Farrell, J., Revicki, D., Carle, A., Cook, K., Sherry, D. D. (2014). A164: Development of pediatric item banks to measure pain behavior in the Patient-Reported Outcomes Measurement Information System. Arthritis & Rheumatology, 66(Suppl. 11), S212-S2121.
database cross reference: NCIT:C102988
hasExactSynonym: PROMIS
hasExactSynonym: Patient Reported Outcomes Measurement Information System

Subject Visit Type
type: Class
subclass of: Information on Observation Details
definition: The kind of visit undertaken by the subject within a study, such as inpatient, outpatient, telephone, etc.
definition source: C103165
existence in other ontologies: Sufficient
previous identifier: SCDO:1000852
database cross reference: NCIT:C103165

Waiver of Consent
type: Class
subclass of: SCDO_1000462
definition: The release from the requirement to obtain informed consent during a study that is granted by Human Subject Protection committee for a research institution for a protocol that is being reviewed by the Institutional Review Board.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0005773
dc:source: International Ethical Guidelines for Health-related Research Involving Humans, Fourth Edition. Geneva. Council for International Organizations of Medical Sciences (CIOMS); 2016.
database cross reference: NCIT:C103270
hasExactSynonym: Consent Waiver
hasExactSynonym: Waiver Of Informed Consent
comment: Waiver of the requirement of a signed consent form from potential participants or parents of children who are potential participants may be approved by a Research Ethics Committee if the research carries no more than minimal risk (i.e., risk that is no more likely and not greater than that attached to routine medical or psychological examination) and if the procedures to be used are only those for which signed consent forms are not customarily required outside the research context. Such waivers may also be approved when existence of a signed consent form would be an unjustified threat to the participant's confidentiality.

Patient Health Questionnaire-9 (PHQ-9)
type: Class
subclass of: Quality of Life Measure
subclass of: SCDO_1000297
definition: A 9-item scale using each of the 9 DSM-IV criteria with self-reported frequency of "0" (not at all) to "3" (nearly every day). One of the most widely used instruments to assess depression, PHQ-9 scores of 5, 10, 15, and 20 represent mild, moderate, moderately severe, and severe depression, respectively.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0000870
dc:source: Kroenke K, Spitzer R, Williams W. The PHQ-9: Validity of a brief depression severity measure. Journal of General Internal Medicine. 2001; 16: 606-616.
database cross reference: NCIT:C103526
hasExactSynonym: PHQ-9
hasExactSynonym: PHQ01
hasExactSynonym: Patient Health Questionnaire - 9 Item
hasExactSynonym: Patient Health Questionnaire-9

S-Nitroso-Hemoglobin
type: Class
subclass of: Hemoglobin
definition: Hemoglobin that has a nitric oxide bound to the cysteine at position 93 in the beta-globin chain.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:1000169
database cross reference: NCIT:C107564
hasExactSynonym: S-Nitrosated Hemoglobin
hasExactSynonym: S-Nitrosohemoglobin

Secondary Amenorrhea
type: Class
subclass of: Abnormality of Reproductive System Physiology
definition: The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0001447
database cross reference: NCIT:C113340

Carboxyhemoglobin
type: Class
subclass of: Hemoglobin
definition: Hemoglobin where the heme group has formed a stable complex with carbon monoxide (CO). This complex is produced after CO has been inhaled or as a byproduct of hemoglobin, protoporphyrin or dichloromethane catabolism. The heme-CO complex is approximately 200 times more stable than heme-oxygen complexes. Thus, high levels of carboxyhemoglobin in the circulation can lead to tissue hypoxia and death.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000168
database cross reference: NCIT:C114300
hasExactSynonym: COHb

Axiom
annotated source: Carboxyhemoglobin
annotated property: hasExactSynonym
annotated target: COHb
synonym_type_property: abbreviation

Dialysis Membrane Reaction
type: Class
subclass of: Device Complication
definition: A severe hypersensitivity-like reaction occurring during dialysis due to exposure to the dialysis membrane.
definition source: https://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:1000387
database cross reference: NCIT:C114714
hasExactSynonym: Dialyzer Reaction

Dialysis Catheter Fracture
type: Class
subclass of: Device Complication
definition: A crack or break in a dialysis catheter caused by material weakness or mechanical compression.
definition source: https://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:1000386
database cross reference: NCIT:C114717

Cardiovascular Complication
type: Class
subclass of: Complication
definition: Any heart or vascular disorder occurring as a consequence of injury to the cardiovascular system.
definition source: https://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:1000390
database cross reference: NCIT:C115199

Hepatic Complication
type: Class
subclass of: Complication
definition: Any disorder of the liver occurring as a consequence of injury to the liver parenchyma.
definition source: https://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:1000382
database cross reference: NCIT:C115224
hasExactSynonym: Liver Complication

Ophthalmologic Complication
type: Class
subclass of: Complication
subclass of: Restriction
  on property: treated with
  some values from: Surgery
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Any eye disorder occurring as a consequence of injury to the eye.
definition source: https://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000832
database cross reference: NCIT:C115319
hasExactSynonym: Ophthalmologic Manifestations

Dialysis Access Complication
type: Class
subclass of: Complication
definition: Any issue that arises as a consequence of a problem with a patient's dialysis access.
definition source: https://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:1000391
database cross reference: NCIT:C116081

Multiplex Ligation-Dependent Probe Amplification
type: Class
subclass of: Polymerase Chain Reaction
definition: A type of high-throughput, multiplex PCR method used to determine abnormal DNA copy number changes of up to 50 genomic DNA or RNA sequences with a single pair of PCR primers. It is frequently used in the detection of genetic aberrations in tumors, and can distinguish sequences differing in only a single nucleotide.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0003929
database cross reference: NCIT:C116161
hasExactSynonym: MLPA

Developmental Delay
type: Class
subclass of: Neurodevelopmental Abnormality
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Failure to meet, or late achievement of developmental milestones.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
is caused by: Can have many different causes, such as genetic causes (like Down syndrome), or complications of pregnancy and birth (like prematurity or infections). Often, however, the specific cause is unknown. Some causes can be easily reversed if caught early enough, such as hearing loss from chronic ear infections, or lead poisoning.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001293
dc:source: http://www.med.umich.edu/yourchild/topics/devdel.htm
database cross reference: NCIT:C116942

deprecated-Avascular Necrosis
type: Class
subclass of: deprecated terms
definition: Tissue death resulting from an interruption to the blood supply.
term replaced by: SCDO_0000841
curator note: This is a synonym for osteonecrosis in our ontology (SCDO:0000841), which is controversial between different literature. Please check with a clinician if these two terms refer to the same condition.
existence in other ontologies: Sufficient
previous identifier: SCDO:0004832
database cross reference: NCIT:C118385
hasExactSynonym: AVN
deprecated: true

Intelligence Scale - 16 to 90 years
type: Class
subclass of: Intelligence Scale
definition: A standardized tool designed to assess an individual's cognitive abilities. It consists of a battery of tests that allow an investigator to conduct a comprehensive cognitive evaluation of IQ.
curator note: Life stage: Adolescent, Adult
curator note: The Sickle Cell Disease Neurology, Quality of Life, and Health Services Working Group recognizes that there is an age overlap between the WAIS-IV and the Wechsler Intelligence Scale for Children-Fifth Edition (WISC-V). The Working Group recommends providers use their clinical judgment, consider the purpose of testing participants, and refer to the frequently asked questions section of the Pearson website for the WAIS-IV and the WISC-V for guidance on selecting an age-appropriate test for individuals.
definition source: http://www.phenxtoolkit.org/index.php
has protocol: PhenX protocol: Intelligence Scale - 16 to 90 years #820501
existence in other ontologies: Sufficient
previous identifier: SCDO:0000646
database cross reference: NCIT:C120254
hasExactSynonym: WAIS-IV
hasExactSynonym: Wechsler Adult Intelligence Scale - Fourth Edition
hasExactSynonym: Wechsler Adult Intelligence Scale 4th Edition
hasExactSynonym: Wechsler Adult Intelligence Scale, Fourth Edition
hasExactSynonym: Wechsler Adult Intelligence Scale, Fourth Edition (WAIS-IV)

Intelligence Scale - 6 to 16 years 11 months
type: Class
subclass of: Intelligence Scale
definition: A battery of tests that allow an investigator to conduct a comprehensive evaluation of a child or adolescent's cognitive ability.
curator note: It consists of a core battery of subtests, which focus on five specific domains (verbal comprehension, processing speed, visual spatial, working memory, and fluid reasoning), as well as optional ancillary subtests. These ancillary subtests measure areas that are important to areas of academic achievement.
curator note: Life stage: Child, Adolescent
curator note: The Sickle Cell Disease Neurology, Quality of Life, and Health Services Working Group recognizes that there is an age overlap between the Wechsler Intelligence Scale for Children®-Fifth Edition (WISC-V) and Wechsler Preschool and Primary Scale of Intelligence-Fourth Edition (WPPSI-IV), as well as between the WISC-V and the Wechsler Adult Intelligence Scale, Fourth Edition (WAIS-IV). The Working Group recommends that providers use their clinical judgment, consider the purpose of testing participants, and refer to the frequently asked questions section of the Pearson website for WISC-V, WPPSI-IV, and WAIS-IV for guidance on selecting an age-appropriate test.
definition source: http://www.phenxtoolkit.org/index.php
has protocol: PhenX protocol: Intelligence Scale - 6 to 16 years 11 months #820503
existence in other ontologies: Sufficient
previous identifier: SCDO:0000648
database cross reference: NCIT:C120255
hasExactSynonym: WISC-V
hasExactSynonym: Wechsler Intelligence Scale for Children-Fifth Edition
hasExactSynonym: Wechsler Intelligence Scale for Children-Fifth Edition (WISC-V)

Intelligence Scale - 2 years, 6 months to 7 years, 7 months
type: Class
subclass of: Intelligence Scale
definition: A standardized tool designed to assess the cognitive development in preschool and young children (up to age 7 years and 7 months). It consists of a battery of tests that allow an investigator to conduct a comprehensive evaluation of IQ.
curator note: Life stage: Toddler, Child
curator note: The Sickle Cell Disease Neurology, Quality of Life, and Health Services Working Group recognizes that there is an age overlap between the WPPSI-IV and the Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III) and between the WPPSI-IV and the Wechsler Intelligence Scale for Children-Fifth Edition (WISC-V). The Working Group recommends that providers use their clinical judgment, consider the purpose of testing participants, and refer to the frequently asked questions section of the Pearson website for the WPPSI-IV, Bayley-III, and the WISC-V for guidance on selecting an age-appropriate test.
definition source: http://www.phenxtoolkit.org/index.php
has protocol: PhenX protocol: Intelligence Scale - 2 years, 6 months to 7 years, 7 months #820502
existence in other ontologies: Sufficient
previous identifier: SCDO:0000647
database cross reference: NCIT:C120256
hasExactSynonym: WPPSI-IV
hasExactSynonym: Wechsler Preschool & Primary Scale of Intelligence 4th Edition
hasExactSynonym: Wechsler Preschool and Primary Scale of Intelligenc-Fourth Edition
hasExactSynonym: Wechsler Preschool and Primary Scale of Intelligenc-Fourth Edition (WPPSI-IV)
hasExactSynonym: Wechsler Preschool and Primary Scale of Intelligence IV

Intelligence Scale
type: Class
subclass of: Clinical or Research Assessment Questionnaire
subclass of: Diagnostic Instrument
subclass of: Restriction
  on property: has essential measure
  some values from: Ethnic Group
subclass of: Restriction
  on property: has essential measure
  some values from: Race
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: An assessment tool designed to measure an individual's cognitive capabilities. It may be general or it may assess abilities in more discrete cognitive domains.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0000645
database cross reference: NCIT:C122920
hasExactSynonym: Intelligence Test

Imaging Transcranial Doppler Ultrasonography
type: Class
subclass of: Cerebral Blood Flow Assay
subclass of: Ultrasound Test
definition: A diagnostic technique that uses pulsed Doppler ultrasound to both identify blood vessels in the brain and measure the velocity of blood flow through those vessels. It allows a more accurate estimation of stroke risk because it allows outlining of parenchymal structures and visualization of the examined vessels.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000613
database cross reference: NCIT:C122931
hasExactSynonym: TCDi

Continuous Ambulatory ECG
type: Class
subclass of: Heart Function Test
subclass of: Restriction
  on property: uses diagnostic device
  some values from: Electrocardiographic Monitor
definition: A continuous electrocardiographic (ECG) recording that utilizes one or more leads that both records and stores data directly to a device worn by the subject, such that the subject need not be restricted to a medical facility, and may be able to participate in their customary activities of daily living.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000281
database cross reference: NCIT:C123446

Global Mental Status Screener - Adult
type: Class
subclass of: Global Mental Status Screener
definition: A standardized rating scale developed by Ziad Nasreddine in 1996 to screen for mild cognitive dysfunction and impairment. This instrument assesses the following cognitive domains: attention and concentration, executive functions, memory, language, visuoconstructional skills, conceptual thinking, calculations, and orientation
definition source: http://bioportal.bioontology.org/ontologies/NCIT
has protocol: PhenX protocol: Global Mental Status Screener - Adult #130701
existence in other ontologies: Sufficient
previous identifier: SCDO:1000335
dc:source: https://www.phenxtoolkit.org/protocols/view/130701
database cross reference: NCIT:C123667
hasExactSynonym: MOCA
hasExactSynonym: MOCA01
hasExactSynonym: Montreal Cognitive Assessment
hasExactSynonym: Montreal Cognitive Assessment Functional Test
hasExactSynonym: Montreal Cognitive Assessment Questionnaire

Pulmonary Consolidation
type: Class
subclass of: Abnormal Cardiovascular System Morphology
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: A chest X-ray finding indicating the presence of a radio-opaque area in the lung. The opacification is caused by fluid or solid material within the airways or lung parenchyma.
curator note: Described in the Tanzania guidelines as 'reduced air entry, increased tactile vocal fremitus, and dull percussion at lung bases, usually bilateral'.
existence in other ontologies: Sufficient
previous identifier: SCDO:0006222
database cross reference: NCIT:C124059
hasExactSynonym: Air Space Opacificatio
hasExactSynonym: Air-Space Shadowing
hasExactSynonym: Airspace Consolidation
hasExactSynonym: Airspace Opacification
hasExactSynonym: Consolidation

Hepatic Iron Concentration
type: Class
subclass of: Diagnostic Measurement
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Magnetic Resonance Imaging
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Liver Biopsy
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: A measurement of the concentration of iron in the liver as an estimate of body iron load.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0000555
database cross reference: NCIT:C124065
hasExactSynonym: Hepatic Iron
hasExactSynonym: Liver Iron
hasExactSynonym: Liver Iron Concentration

Mid Upper Arm Circumference
type: Class
subclass of: Body Morphological Measurement
definition: A circumferential measurement of the largest part of the upper arm.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0000758
database cross reference: NCIT:C124475
hasExactSynonym: MUAC
hasExactSynonym: MUARMCIR
hasExactSynonym: Mid-Upper Arm Circumference

Oxygenated Hemoglobin
type: Class
subclass of: Hemoglobin
definition: Hemoglobin where the heme group has formed a reversible complex with oxygen (O2) in the lungs. This molecule is found in the systemic arteries and transports O2 from the lungs to the tissues where it is readily released.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000275
database cross reference: NCIT:C126120
hasExactSynonym: HbO2
hasExactSynonym: Oxyhemoglobin

Deoxygenated Hemoglobin
type: Class
subclass of: Hemoglobin
definition: Hemoglobin containing a heme group that is not bound to oxygen (O2). This molecule is normally found in the systemic veins following transit through capillaries and release of O2 into the tissues. Excess deoxyhemoglobin can be associated with hypoxia.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000057
database cross reference: NCIT:C126121
hasExactSynonym: Deoxyhemoglobin

Intra-Abdominal Abscess
type: Class
subclass of: Infection
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
definition: An abscess within the abdomen.
existence in other ontologies: Sufficient
previous identifier: SCDO:0008079
database cross reference: NCIT:C128326

Hereditary Persistence of Fetal Hemoglobin
type: Class
subclass of: Quantitative Hemoglobinopathy
subclass of: Restriction
  on property: treated with
  some values from: Hydroxyurea
subclass of: Restriction
  on property: has causal genotype
  some values from: SCDO_1000235
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBG1 and/or HBG2 Mutations
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, 106-KB DEL
subclass of: Restriction
  on property: has manifestation
  some values from: Osteonecrosis of the Femoral Head
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Increased Hemoglobin F
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
definition: The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0000560
database cross reference: NCIT:C129072
hasExactSynonym: HPFH
hasExactSynonym: Hereditary Persistence of Foetal Haemoglobin
comment: This is a benign condition.

Sickle Cell Disease-SS
type: Class
subclass of: Structural Hemoglobinopathy
subclass of: Sickle Cell Disease
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Genetic Testing
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Smear
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Hemoglobin Profile Assay
subclass of: Restriction
  on property: has mode of inheritance
  some values from: SCDO_1000242
subclass of: Restriction
  on property: has causal genotype
  some values from: Hemoglobin Genotype SS
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has manifestation
  some values from: Erythromycin
subclass of: Restriction
  on property: has manifestation
  some values from: Ischemic Cholitis
subclass of: Restriction
  on property: has manifestation
  some values from: Gastroenteritis
subclass of: Restriction
  on property: has manifestation
  some values from: Septic Arthritis
subclass of: Restriction
  on property: has manifestation
  some values from: Kidney Failure
subclass of: Restriction
  on property: has manifestation
  some values from: Focal Segmental Glomerulosclerosis
subclass of: Restriction
  on property: has manifestation
  some values from: Hypertension
subclass of: Restriction
  on property: has manifestation
  some values from: Delayed Puberty
subclass of: Restriction
  on property: has manifestation
  some values from: Cholelithiasis
subclass of: Restriction
  on property: has manifestation
  some values from: Hemiparesis
subclass of: Restriction
  on property: has manifestation
  some values from: Cirrhosis
subclass of: Restriction
  on property: has manifestation
  some values from: Intrahepatic Cholestasis
subclass of: Restriction
  on property: has manifestation
  some values from: Cardiac Failure
subclass of: Restriction
  on property: has manifestation
  some values from: Myocardial Infarction
subclass of: Restriction
  on property: has manifestation
  some values from: Splenomegaly
subclass of: Restriction
  on property: has manifestation
  some values from: Thrombocytopenia
subclass of: Restriction
  on property: has manifestation
  some values from: Neutropenia
subclass of: Restriction
  on property: has manifestation
  some values from: Hemolytic Anemia
subclass of: Restriction
  on property: has manifestation
  some values from: Megaloblastic Anemia
subclass of: Restriction
  on property: has manifestation
  some values from: Reticulocytopenia
subclass of: Restriction
  on property: has manifestation
  some values from: Anemia
subclass of: Restriction
  on property: has manifestation
  some values from: Leukocytosis
subclass of: Restriction
  on property: has manifestation
  some values from: Pneumonia
subclass of: Restriction
  on property: has manifestation
  some values from: Pulmonary Embolism
subclass of: Restriction
  on property: has manifestation
  some values from: Hepatomegaly
subclass of: Restriction
  on property: has manifestation
  some values from: Hyposthenuria
subclass of: Restriction
  on property: has manifestation
  some values from: Neonatal Hyperbilirubinemia
subclass of: Restriction
  on property: has manifestation
  some values from: Ventricular Tachycardia
subclass of: Restriction
  on property: has manifestation
  some values from: Chronic Hemolytic Anemia
subclass of: Restriction
  on property: has manifestation
  some values from: Hypovolemia
subclass of: Restriction
  on property: has manifestation
  some values from: Bronchiolitis
subclass of: Restriction
  on property: has manifestation
  some values from: Pyelonephritis
subclass of: Restriction
  on property: has manifestation
  some values from: Chronic Pain
subclass of: Restriction
  on property: has manifestation
  some values from: Mesangial Hypercellularity
subclass of: Restriction
  on property: has manifestation
  some values from: Cough
subclass of: Restriction
  on property: has manifestation
  some values from: Hepatic Vein Thrombosis
subclass of: Restriction
  on property: has manifestation
  some values from: Chest Pain
subclass of: Restriction
  on property: has manifestation
  some values from: Pulmonary Infiltrate
subclass of: Restriction
  on property: has manifestation
  some values from: Pulmonary Consolidation
subclass of: Restriction
  on property: has manifestation
  some values from: Intra-Abdominal Abscess
subclass of: Restriction
  on property: has manifestation
  some values from: Hyperbilirubinemia
subclass of: Restriction
  on property: has manifestation
  some values from: Sickle Cell Dactylitis
subclass of: Restriction
  on property: has manifestation
  some values from: Cholecystitis
subclass of: Restriction
  on property: has manifestation
  some values from: Chronic Cholecystitis
subclass of: Restriction
  on property: has manifestation
  some values from: Acute Cholecystitis
subclass of: Restriction
  on property: has manifestation
  some values from: Ascending Cholangitis
subclass of: Restriction
  on property: has manifestation
  some values from: Osteonecrosis of the Femoral Head
subclass of: Restriction
  on property: has manifestation
  some values from: Urinary Tract Infection
subclass of: Restriction
  on property: has manifestation
  some values from: Posterior Reversible Leukoencephalopathy
subclass of: Restriction
  on property: has manifestation
  some values from: Acute Pancreatitis
subclass of: Restriction
  on property: has manifestation
  some values from: Glomerular Hypertrophy
subclass of: Restriction
  on property: has manifestation
  some values from: Renal Vein Thrombosis
subclass of: Restriction
  on property: has manifestation
  some values from: Spinal Cord Infarction
subclass of: Restriction
  on property: has manifestation
  some values from: Chronic Neuropathic Pain
subclass of: Restriction
  on property: has manifestation
  some values from: Hematuria
subclass of: Restriction
  on property: has manifestation
  some values from: Leg Ulcer
definition: A variant of sickle cell disease due to homozygosity of the E6V mutation, amino acid substitution of valine for glutamic acid in the sixth position of the beta chain, resulting in the production of hemoglobin S from both alleles.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000549
database cross reference: NCIT:C131682
hasExactSynonym: Hb SS Disease
hasExactSynonym: Hb SS-Disease
hasExactSynonym: Hemoglobin SS Disease
hasExactSynonym: Homozygous Sickle Cell Disease
hasExactSynonym: SCA
hasExactSynonym: SS and S/Beta-Zero Thalassemia
hasExactSynonym: Severe SCD
hasExactSynonym: Sickle Cell Anemia
hasExactSynonym: Sickle Cell Disease SS
hasExactSynonym: Sickle Cell Hemoglobin S Disease
hasExactSynonym: Sickle Cell-SS Disease

Crizanlizumab
type: Class
subclass of: Drug
subclass of: Preventative Therapeutics
definition: A humanized monoclonal immunoglobulin G1 anti-P-selectin antibody with vaso-protective and anti-vaso-occlusive properties. Upon administration, crizanlizumab binds to P-selectin and blocks its interaction with P-selectin glycoprotein ligand-1 (PSGL-1; SELPLG) on neutrophils and monocytes. P-selectin, a glycoprotein that functions as a cell adhesion molecule (CAM), translocates to the surface of activated endothelial cells and platelets, upon stimulation, where it binds to its ligand and mediates the rolling of platelets and neutrophils on activated endothelial cells. Therefore, blockade of p-selectin may inhibit platelet aggregation, maintain blood flow and minimize sickle cell-related pain crises (SCPC).
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:1000380
dc:source: fda-approves-first-targeted-therapy-treat-patients-painful-complication-sickle-cell-disease
dc:source: PMC5481200
database cross reference: NCIT:C133543
hasExactSynonym: Adakveo
hasExactSynonym: SEG101
hasExactSynonym: SelG1

Hemoglobin Lepore Syndrome
type: Class
subclass of: Delta Beta Thalassemia
subclass of: Restriction
  on property: diagnosed using tool
  some values from: High-Performance Liquid Chromatography
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Genetic Testing
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Isoelectric Focusing
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Recessive
subclass of: Restriction
  on property: has causal genotype
  some values from: SCDO_1000209
definition: A rare autosomal recessive hemoglobinopathy, caused by the presence of two deltabeta globin fusion chains, which occurs due to a crossover between the delta (HBD) and beta globin (HBB) gene loci during meiosis.
definition source: http://en.wikipedia.org/wiki/Hemoglobin_Lepore_syndrome
existence in other ontologies: Sufficient
previous identifier: SCDO:0000538
database cross reference: NCIT:C141366
hasExactSynonym: Hb Lepore
hasExactSynonym: Hb Lepore Syndrome
hasExactSynonym: Homozygous Hb Lepore
hasExactSynonym: Homozygous Hemoglobin Lepore

Data Storage
type: Class
subclass of: Research
definition: To maintain data by placing the data, or a copy of the data, onto an electronically accessible device for preservation (either in plain-text or encrypted format).
definition source: https://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:1000420
database cross reference: NCIT:C142494

Research Ethics Committee
type: Class
subclass of: SCDO_1000430
definition: An independent group that comprises medical, scientific, and non-scientific members, and is tasked with the continuing review and approval of research, including clinical trials, with respect to the protocols, methods, and informed consent process to ensure the protection of the rights, safety, and wellbeing of participants.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0009748
database cross reference: NCIT:C142541
hasExactSynonym: Ethics Committee
hasExactSynonym: Human Subject Protection Committee
hasExactSynonym: REC
hasExactSynonym: Research Ethics Committee

Recruitment Period
type: Class
subclass of: Research Characteristics
definition: The interval of time during which subjects are to be enrolled in a clinical study.
definition source: https://bioportal.bioontology.org/ontologies/ONE/
existence in other ontologies: Sufficient
previous identifier: SCDO:1000400
database cross reference: NCIT:C142664

Voxelotor
type: Class
subclass of: Drug
subclass of: Preventative Therapeutics
definition: An orally bioavailable modulator and stabilizer of sickle cell hemoglobin (HbS), with potential use in the treatment of sickle cell disease (SCD). Upon administration, voxelotor targets and covalently binds to the N-terminal valine of the alpha chain of HbS. This stabilizes HbS, thereby improving oxygen binding affinity. The binding of voxelotor to HbS prevents HbS polymerization, reduces sickling, decreases red blood cell (RBC) damage and increases the half-life of RBCs. This improves blood flow and decreases hemolytic anemia.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:1000381
database cross reference: NCIT:C152089
hasExactSynonym: GBT-440
hasExactSynonym: GBT440
hasExactSynonym: Oxbryta
comment: Is an accepted therapy for adults and pediatric patients 12 years of age and older with sickle cell disease.

Gene Therapy
type: Class
subclass of: Curative Therapeutics
subclass of: Restriction
  on property: modifies
  some values from: Disease
subclass of: Restriction
  on property: treats
  some values from: Acute Chest Syndrome
subclass of: Restriction
  on property: treats
  some values from: Severe Anemia
subclass of: Restriction
  on property: treats
  some values from: Sickle Cell Disease-SD
subclass of: Restriction
  on property: treats
  some values from: Hemoglobin Barts Hydrops Fetalis
definition: Application of genetic material (usually DNA) into cells in order to permanently correct an inherited disease or acquired disease.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0001344
database cross reference: NCIT:C15238
hasExactSynonym: DNA Therapy

Study Design
type: Class
subclass of: Research Characteristics
definition: A plan detailing how a study will be performed in order to represent the phenomenon under examination, to answer the research questions that have been asked, and defining the methods of data analysis. Study design is driven by research hypothesis being posed, study subject/population/sample available, logistics/resources: technology, support, networking, collaborative support, etc.
curator note: Review current sub-classes in light of and include relevant classes from "EDDA Study Designs Taxonomy" to be added as sub-classes.
definition source: https://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0001115
database cross reference: NCIT:C15320
hasExactSynonym: Experiment Design
hasExactSynonym: Experimental Design
hasExactSynonym: Research Design
hasExactSynonym: STYPE

Adult Sickle Cell Quality-of-Life Measurement Information System (ASCQ-Me)
type: Class
subclass of: Quality of Life in Sickle Cell Disease Measure
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: A patient-reported outcome measurement system designed to evaluate and monitor the physical, mental, and social well-being of adults with sickle cell disease.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
has cross-cultural adaptation: Cross-cultural adaptation underway in Brazil. ASCQ-Me's development using modern measurement theory facilitates cross cultural adaptation.
has protocol: PhenX protocol: Adult Sickle Cell Quality of Life Measurement Information System (ASCQ-Me) #820201
has respondents: Self
has target population: Clinic Patients (Adults with SCD)
has translations: Spanish; Portuguese
has_application_toward: This measure can be used to track health status and treatment outcomes and understand the health care requirements of patients with chronic conditions, such as sickle cell disease (SCD).
selection criteria met: Rigor in development, using modern measurement theory and aligned with PROMIS measurement development.
validated for age ranges: 18 years and older
freely available: no
existence in other ontologies: Sufficient
previous identifier: SCDO:0000027
dc:source: https://www.phenxtoolkit.org/protocols/view/820201
dc:source: Keller SD, Yang M, Treadwell MJ, Werner EM, Hassell KL (2014).Patient reports of health outcome for adults living with sickle cell disease: development and testing of the ASCQ-Me item banks. Health and Quality of Life Outcomes,12,125.
database cross reference: NCIT:C154481
hasExactSynonym: ASCQ-Me
hasExactSynonym: Adult Sickle Cell Quality of Life Measurement Information System
hasExactSynonym: Adult Sickle Cell Quality-of-Life Measurement Information System
comment: It includes questions that enable adults with SCD to describe their functioning and well-being. Its measures are available as 5 item short forms or can be administered as computer adaptive tests. Measures include: Pain Impact; Stiffness Impact (5-item short form); Sleep Impact; Social Functioning Impact; Emotional Impact; Pain Episodes; and Pain Frequency.

Cerebral Blood Flow Assay
type: Class
subclass of: Cerebral Function Assay
subclass of: SCDO_1000316
definition: An evaluation of the perfusion of blood through the brain.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0000204
database cross reference: NCIT:C154865
hasExactSynonym: Cerebral Blood Flow Assessment
hasExactSynonym: Cerebral Blood Flow Measurement
hasExactSynonym: Stroke Risk Test

Sickle Cell Disease-SD
type: Class
subclass of: Structural Hemoglobinopathy
subclass of: SCDO_1000163
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Genetic Testing
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Smear
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Hemoglobin Profile Assay
subclass of: Restriction
  on property: treated with
  some values from: Gene Therapy
subclass of: Restriction
  on property: treated with
  some values from: Antibiotic
subclass of: Restriction
  on property: treated with
  some values from: Blood Transfusion
subclass of: Restriction
  on property: treated with
  some values from: Hematopoietic Stem Cell Transplantation
subclass of: Restriction
  on property: treated with
  some values from: Hydroxyurea
subclass of: Restriction
  on property: treated with
  some values from: Morphine
subclass of: Restriction
  on property: treated with
  some values from: Folic Acid
subclass of: Restriction
  on property: treated with
  some values from: Iron Chelation Therapy
subclass of: Restriction
  on property: has mode of inheritance
  some values from: SCDO_1000243
subclass of: Restriction
  on property: has causal genotype
  some values from: Hemoglobin Genotype SD
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, SER9TYR
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU121GLN
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLY16ARG
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, ASN19LYS
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU22GLN
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU22VAL
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, THR87LYS
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU121ALA
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin D
definition: A variant of sickle cell disease due to heterozygosity for hemoglobin S and hemoglobin D mutations. Patients present with the symptoms of sickle cell disease but the symptoms are less frequent and severe compared to patients with hemoglobin SS disease.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0001060
database cross reference: NCIT:C155310
hasExactSynonym: Haemoglobin S-D Disease
hasExactSynonym: Hb SD-Disease
hasExactSynonym: Hemoglobin S-D Disease
hasExactSynonym: Hemoglobin Sickle D Disease
hasExactSynonym: Sickle Cell Disease SD
hasExactSynonym: Sickle Cell Hemoglobin D Disease
hasExactSynonym: Sickle Cell-Haemoglobin D Disease
hasExactSynonym: Sickle Cell-Hemoglobin D Disease

Sickle Cell Chronic Lung Disease
type: Class
subclass of: Chronic Restrictive Lung Disease
subclass of: Phenotype of Sickle Cell Disease
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Personal Medical History
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Arterial Blood Gas Test
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Chest X-Ray
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Physical Examination
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Pulmonary Function Test
subclass of: Restriction
  on property: treated with
  some values from: Blood Transfusion
subclass of: Restriction
  on property: treated with
  some values from: Hydroxyurea
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: A pulmonary complication of sickle cell disease characterized by radiographic interstitial abnormalities and impaired pulmonary function. In severe cases, pulmonary hypertension is present.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
is characterised by: Restricive lung disease often associated with chest pain and hypoxemia. May also be associated with pulmonary hypertension.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001046
dc:source: Powars et al 1988 Medicine (Baltimore), Knight-Madden et al 2010 Lung.
database cross reference: NCIT:C155312
hasExactSynonym: Sickle Cell Chronic Restrictive Lung Disease

Global Mental Status Screener - Older Children and Adolescents
type: Class
subclass of: Global Mental Status Screener
definition: A clinician-assessed rating of psychological and social functioning in children ages six to seventeen that was developed by Shaffer et al. in 1983. The numerical scale, which is an adaptation of the adult Global Assessment Scale (GAS) developed by Endicott et al in 1976, is scored from 0 to 100 based on behaviors and life situations that are applicable to children.
definition source: details
has protocol: PhenX protocol: Global Mental Status Screener - Older Children and Adolescents #130703
existence in other ontologies: Sufficient
previous identifier: SCDO:1000334
dc:source: https://www.phenxtoolkit.org/protocols/view/130703
database cross reference: NCIT:C155932
hasExactSynonym: CGAS
hasExactSynonym: Children’s Global Assessment Scale
hasExactSynonym: Children’s Global Assessment Scale (CGAS)

Separated
type: Class
subclass of: Clinical or Research Assessment Answer
definition: A person who is separated from their spouse, whether or not there is a legal arrangement.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000677
database cross reference: NCIT:C156541

Genetic Testing
type: Class
subclass of: Genetic Technique
definition: The process of isolating and testing the DNA of an embryo or a person to detect the presence of genetic alterations or defects that may predispose to the future development of a disease or disorder.
curator note: Note: "Genetic Test" is a SNOMED CT term. Include NCIT's "Presymptomatic Testing" as a sub-class?
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000449
database cross reference: NCIT:C15709
hasExactSynonym: Genetic Analysis
hasExactSynonym: Genetic Examination
hasExactSynonym: Genetic Test

Lifestyle Therapy
type: Class
subclass of: Therapeutics
subclass of: Restriction
  on property: treats
  some values from: Diabetes Mellitus
subclass of: Restriction
  on property: treats
  some values from: Obstructive Sleep Apnea
definition: Therapy dealing with lifestyle management and includes: behavioral and dietary modifications, exercise, stress management, and addiction control. This therapy must be used as major adjunct to 'standard care' or be applied as alternative treatment to conventional medicine practices.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:1000006
database cross reference: NCIT:C15900

Polyvalent Pneumococcal Vaccine
type: Class
subclass of: VO_0000675
definition: An polyvalent vaccine used to prevent infection by the bacterium Streptococcus pneumoniae. Pneumococcal polyvalent vaccine contains highly purified capsular antigens from the 23 most prevalent or invasive pneumococcal types of Streptococcus pneumoniae to ensure cross-protection. Following vaccination, protective capsular type-specific antibody levels typically develop by the third week; serotype-specific antibody levels generally decline after 5-10 years.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000915
database cross reference: NCIT:C1643
hasExactSynonym: PPSV
hasExactSynonym: Pneumococcal Polysaccharide Vaccine
hasExactSynonym: Pneumococcal Polyvalent Vaccine

Date of Diagnosis
type: Class
subclass of: SCDO_1000538
definition: The date on which a diagnosis of disease was made.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000557
database cross reference: NCIT:C164339

Community
type: Class
subclass of: Social Environment
definition: A set of people with some shared element. The substance of shared element varies widely, from geography to a situation to interest to lives and values. The term is widely used to evoke sense of collectivity.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0000266
database cross reference: NCIT:C16453

Demographic Factor
type: Class
subclass of: Personal Attribute
definition: The statistical characterization of human populations or segments of human populations (e.g., characterization by age, sex, race, or income).
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:1000468
database cross reference: NCIT:C16495
hasExactSynonym: Demographic Factors
hasExactSynonym: Demographics
hasExactSynonym: Demography
hasExactSynonym: Population Studies / Demography

Ethnic Group
type: Class
subclass of: Ethnolinguistics
subclass of: Restriction
  on property: has essential measure
  some values from: Race
definition: A social group characterized by a distinctive social and cultural tradition that is maintained from generation to generation. Members share a common history and origin and a sense of identification with the group. They have similar and distinctive features in their lifestyle habits and shared experiences. They often have a common genetic heritage which may be reflected in their experience of health and disease.
curator note: Include other Ethnic groups that are sub-classes of "Ethnic Group" in ERO.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0001298
database cross reference: NCIT:C16564
hasExactSynonym: Ethnic Origin
hasExactSynonym: Ethnic Origins
hasExactSynonym: Ethnicity

Exercise
type: Class
subclass of: Lifestyle Therapy
subclass of: Health Behaviour
subclass of: Restriction
  on property: treats
  some values from: Hyperinsulinemia
subclass of: Restriction
  on property: treats
  some values from: Insulin Resistance
subclass of: Restriction
  on property: treats
  some values from: Osteopenia
subclass of: Restriction
  on property: treats
  some values from: Osteoporosis
subclass of: Restriction
  on property: treats
  some values from: Joint Hypermobility
subclass of: Restriction
  on property: treats
  some values from: Migraine
subclass of: Restriction
  on property: treats
  some values from: Kyphosis
subclass of: Restriction
  on property: treats
  some values from: Dyslipidemia
subclass of: Restriction
  on property: treats
  some values from: Transient Monocular Blindness
definition: Activity that requires physical or mental exertion, especially when performed to develop or maintain fitness.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0001305
database cross reference: NCIT:C16567

Female
type: Class
subclass of: Clinical or Research Assessment Answer
definition: A person who belongs to the sex that normally produces ova. The term is used to indicate biological sex distinctions, or cultural gender role distinctions, or both.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000560
database cross reference: NCIT:C16576

Gene
type: Class
subclass of: Genetic Structure
definition: A functional unit of heredity which occupies a specific position on a particular chromosome and serves as the template for a product that contributes to a phenotype or a biological function.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:1000359
database cross reference: NCIT:C16612

Geographic Area
type: Class
subclass of: Personal Attribute
definition: Any demarcated area of the Earth; may be determined by both natural and human boundaries.
definition source: https://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:1000367
database cross reference: NCIT:C16632
hasExactSynonym: Geographic Location
hasExactSynonym: Geographic Region

Hemoglobin
type: Class
subclass of: Gene Product
definition: The red respiratory protein of erythrocytes, consisting of approximately 3.8% heme and 96.2% globin (64.5 KD), which as oxyhemoglobin (HbO2) transports oxygen from the lungs to the tissues where the oxygen is readily released and HbO2 becomes Hb.
existence in other ontologies: Sufficient
previous identifier: SCDO:0009453
database cross reference: NCIT:C16676
hasExactSynonym: Hb
hasExactSynonym: Hgb

Immunological Assay
type: Class
subclass of: Biochemical Assay
definition: Laboratory test involving interaction of antigens with specific antibodies.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0000617
database cross reference: NCIT:C16723
hasExactSynonym: Immunoassay
hasExactSynonym: Immunological Laboratory Method
hasExactSynonym: Immunology Test

Language
type: Class
subclass of: Ethnolinguistics
definition: A systematic means of communicating by the use of sounds, symbols, or gestures.
existence in other ontologies: Sufficient
previous identifier: SCDO:0005364
database cross reference: NCIT:C16779

Magnetic Resonance Imaging
type: Class
subclass of: Imaging Assay
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Imaging that uses radiofrequency waves and a strong magnetic field rather than x-rays to provide amazingly clear and detailed pictures of internal organs and tissues. The technique is valuable for the diagnosis of many pathologic conditions, including cancer, heart and vascular disease, stroke, and joint and musculoskeletal disorders.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0000708
database cross reference: NCIT:C16809
hasExactSynonym: MIR Scan
hasExactSynonym: MRI
hasExactSynonym: MRT
hasExactSynonym: Magnetic Resonance Imaging Scan
hasExactSynonym: Magnetic Resonance Tomography
hasExactSynonym: NMR Imaging
hasExactSynonym: NMRI
hasExactSynonym: Nuclear Magnetic Resonance Imaging

Year of Diagnosis
type: Class
subclass of: SCDO_1000538
definition: The year when a diagnosis was assigned to an individual's condition.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000567
database cross reference: NCIT:C168823

Genetic Polymorphism
type: Class
subclass of: Genetic Variation
definition: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site to large nucleotide sequences visible at a chromosomal level.
existence in other ontologies: Sufficient
previous identifier: SCDO:0004047
database cross reference: NCIT:C17004

Quality of Life
type: Class
subclass of: Quality of Life and Care
subclass of: Restriction
  on property: modified by
  some values from: Disease
subclass of: Restriction
  on property: modified by
  some values from: Mental Health
subclass of: Restriction
  on property: modified by
  some values from: Physical Functioning
subclass of: Restriction
  on property: modified by
  some values from: Quality of Health Care
definition: The subjective measurement of an individual's sense of well-being and ability to enjoy life. The concept holds varying meanings for different people and may evolve over time. For some individuals it implies autonomy, empowerment, capability, and choice; for others, security, social integration, or freedom from stress or illness.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000949
database cross reference: NCIT:C17047
hasExactSynonym: Health Related Quality of Life
hasExactSynonym: QOL

Race
type: Class
subclass of: Demographic Factor
subclass of: Quality of Life Related Personal Attribute
subclass of: Restriction
  on property: has essential measure
  some values from: Ethnic Group
definition: An arbitrary classification of a taxonomic group that is a division of a species. It usually arises as a consequence of geographical isolation within a species and is characterized by shared heredity, physical attributes and behavior, and in the case of humans, by common history, nationality, or geographic distribution.
curator note: Different relevant racial groups need to be recorded. Perhaps as sub-classes of this class? The PhenX protocol is U.S. specific. Is there one relevant to the African setting?
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0000962
database cross reference: NCIT:C17049
hasExactSynonym: Racial Group

Ultrasound Test
type: Class
subclass of: Imaging Assay
subclass of: Restriction
  on property: uses diagnostic device
  some values from: Ultrasound Machine
definition: A technique in which high-frequency sound waves are bounced off internal organs and the echo pattern is converted into a 2 dimensional picture of the structures beneath the transducer.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0000614
database cross reference: NCIT:C17230
hasExactSynonym: Immaging by Ultrasonography
hasExactSynonym: Ultrasonography
hasExactSynonym: Ultrasound
hasExactSynonym: Ultrasound Imaging

Urine Test
type: Class
subclass of: Physiological Assay
definition: Laboratory analysis of urine, commonly used to aid in the diagnosis of disease or to detect the presence of a specific substance. It involves examination of the urine by physical or chemical means as well as microscopic examination that helps to screen for urinary tract infections, renal disease, and diseases of other organs, that result in abnormal metabolites (break-down products) appearing in the urine.
curator note: Other urine tests to be added as sub-classes? There are many in the NCIT.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0001216
database cross reference: NCIT:C17241
hasExactSynonym: Urinalysis
hasExactSynonym: Urine Analysis

Cerebral Blood Flow Velocity
type: Class
subclass of: Cerebrovascular Hemodynamics
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Stroke Risk Test in Children with Sickle Cell Disease
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Transcranial Doppler Ultrasonography
definition: The rate of blood flow through the cerebral arteries.
definition source: https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp
existence in other ontologies: Sufficient
previous identifier: SCDO:0000205
database cross reference: NCIT:C173396
hasExactSynonym: CBF Velocity
hasExactSynonym: CBFV
hasExactSynonym: Transcranial Doppler Velocity

Gender
type: Class
subclass of: Demographic Factor
definition: The assemblage of properties that distinguish people on the basis of the societal roles expected for the two sexes.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0001341
database cross reference: NCIT:C17357

Reproductive History
type: Class
subclass of: Personal Medical History
definition: An account of all reproductive events and problems a person has experienced. An important aggregate factor in epidemiological studies of women's health. The concept usually includes the number and timing of pregnancies and their outcomes, the incidence of breast feeding, and may include age of menarche and menopause, regularity of menstruation, fertility, gynecological or obstetric problems, or contraceptive usage.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:1000346
database cross reference: NCIT:C17655

Psychosocial Effect
type: Class
subclass of: Mental Health
definition: Having to do with the physical, psychological, cognitive, and social consequences of disease, including stigmatization of persons affected.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0000939
database cross reference: NCIT:C17873
hasExactSynonym: Psychosocial Effects
hasExactSynonym: Psychosocial Effects/Treatment

Missense Mutation
type: Class
subclass of: Point Mutation
definition: A single base pair substitution that alters the genetic code in a way that produces an amino acid that is different from the usual amino acid at that position. Some missense mutations will alter the function of the protein.
existence in other ontologies: Sufficient
previous identifier: SCDO:0004314
database cross reference: NCIT:C18133

Personal Medical History
type: Class
subclass of: Personal Attribute
subclass of: Quality of Life Related Personal Attribute
definition: A record of a patient's background regarding health and the occurrence of disease events of the individual. In addition, personal medical history may be a variable in epidemiologic studies.
curator note: Sub-classes in NCIT to be added here.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000891
database cross reference: NCIT:C18772
hasExactSynonym: General Medical History
hasExactSynonym: Medical History
hasExactSynonym: PMH
hasExactSynonym: Past Medical History

Optical Instrument
type: Class
subclass of: Microscope
definition: An instrument used to measure an event involving emission, absorption, or refraction of light.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000837
database cross reference: NCIT:C19228

Deletion Mutation
type: Class
subclass of: Mutation
subclass of: Restriction
  on property: modifies
  some values from: Gene Product
definition: Any rearrangement to the genomic content that results in the loss of one or more nucleotides of DNA. Deletions are generally irreversible rearrangements. They may alter the reading frame of a gene, or may result in loss of large chromosomal regions.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001371
database cross reference: NCIT:C19296
hasExactSynonym: Deletion Abnormality

Personal Attribute
type: Class
subclass of: SCDO
definition: The distinguishing qualities or prominent aspects of an individual person.
curator note: Populate this class with demographic terms from PhenX and elsewhere. Some terms will be duplicated in QoL. -- -- Add these from PhenX?: -- - Acculturation -- - Residential History -- -- Also look at other sub-classes in NCIT.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000890
database cross reference: NCIT:C19332
hasExactSynonym: Subject Characteristics

Molecular Profiling Assay
type: Class
subclass of: Diagnostic Technique, Method, Test or Assay
definition: Analysis of the RNA expression pattern in a tissue sample using molecular techniques.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0000768
database cross reference: NCIT:C19771
hasExactSynonym: Expression Profiling
hasExactSynonym: Molecular Fingerprinting
hasExactSynonym: Molecular Profiling

Male
type: Class
subclass of: Clinical or Research Assessment Answer
definition: A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000559
database cross reference: NCIT:C20197

Silent Mutation
type: Class
subclass of: Point Mutation
definition: A point mutation occurring within the protein-coding region of a gene, and which codes for the same amino acid as expected.
existence in other ontologies: Sufficient
previous identifier: SCDO:0005439
database cross reference: NCIT:C20629
hasExactSynonym: Exon Synonymous Mutation
hasExactSynonym: Exonic Synonymous Mutation
hasExactSynonym: Synonymous Mutation

SP1 Gene
type: Class
subclass of: Gene
definition: This gene plays a role in transcriptional regulation and is involved in several signal transduction pathways.
definition source: https://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:1000393
database cross reference: NCIT:C20711
hasExactSynonym: SP1
hasExactSynonym: Sp1 Transcription Factor Gene

Age
type: Class
subclass of: Demographic Factor
subclass of: Quality of Life Related Personal Attribute
definition: How long something has existed; elapsed time since birth.
curator note: Could add many sub-classes of "Age" from NCIT.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000030
database cross reference: NCIT:C25150
hasExactSynonym: Aged
hasExactSynonym: Chronological Age
hasExactSynonym: Postnatal Age

Person Name
type: Class
subclass of: Personal Attribute
definition: A word or group of words indicating the identity of a person usually consisting of a first (personal) name and a last (family) name with an optional middle name. In some cultural traditions the family name comes first.
definition source: C25191
existence in other ontologies: Sufficient
previous identifier: SCDO:1000859
database cross reference: NCIT:C25191
hasExactSynonym: Contact Name
hasExactSynonym: Individual's Name
hasExactSynonym: Name
hasExactSynonym: Name of Person
hasExactSynonym: Person.name

Systolic Blood Pressure
type: Class
subclass of: Blood Pressure Measurement
definition: The maximum pressure exerted into the systemic arterial circulation during the contraction of the left ventricle of the heart.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000892
database cross reference: NCIT:C25298
hasExactSynonym: SYSBP
hasExactSynonym: Systolic Pressure
hasExactSynonym: systolic bp

Diastolic Blood Pressure
type: Class
subclass of: Blood Pressure Measurement
definition: The minimum pressure exerted into the systemic arterial circulation during cardiac ventricular relaxation and filling.
existence in other ontologies: Sufficient
in CRF section: Vital Signs
order in CRF section: 6
previous identifier: SCDO:1000893
database cross reference: NCIT:C25299
hasExactSynonym: DIABP
hasExactSynonym: Diastolic Pressure

Consent
type: Class
subclass of: Personal Attribute
subclass of: Descriptor of Consent
definition: Permission to do something.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001466
database cross reference: NCIT:C25460

deprecated Country
type: Class
subclass of: deprecated terms
definition: A collective generic term that refers here to a wide variety of dependencies, areas of special sovereignty, uninhabited islands, and other entities in addition to the traditional countries or independent states.
term replaced by: SCDO_0000792
existence in other ontologies: Sufficient
previous identifier: SCDO:0004140
database cross reference: NCIT:C25464
deprecated: true

Data
type: Class
subclass of: Personal Attribute
definition: A collection or single item of factual or reported information, derived from measurement or research, from which conclusions may be drawn.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0006670
database cross reference: NCIT:C25474

Antibiotic
type: Class
subclass of: Drug
subclass of: Symptomatic Therapeutics
subclass of: Restriction
  on property: treats
  some values from: Acute Chest Syndrome
subclass of: Restriction
  on property: treats
  some values from: Severe Anemia
subclass of: Restriction
  on property: treats
  some values from: Menorrhagia
subclass of: Restriction
  on property: treats
  some values from: Otitis Media
subclass of: Restriction
  on property: treats
  some values from: Pyoderma
subclass of: Restriction
  on property: treats
  some values from: Acne
subclass of: Restriction
  on property: treats
  some values from: Meningitis
subclass of: Restriction
  on property: treats
  some values from: Bacterial Endocarditis
subclass of: Restriction
  on property: treats
  some values from: Nail Dystrophy
subclass of: Restriction
  on property: treats
  some values from: Brain Abscess
subclass of: Restriction
  on property: treats
  some values from: Endometriosis
subclass of: Restriction
  on property: treats
  some values from: Sepsis
subclass of: Restriction
  on property: treats
  some values from: Increased Susceptibility to Bacterial Infection
subclass of: Restriction
  on property: treats
  some values from: Sickle Cell Disease-SD
subclass of: Restriction
  on property: treats
  some values from: Hemoglobin H Disease
subclass of: Restriction
  on property: treats
  some values from: Atopic Dermatitis
subclass of: Restriction
  on property: treats
  some values from: Non-specific Acute Lower Respiratory Tract Episode
subclass of: Restriction
  on property: treats
  some values from: Osteomyelitis
subclass of: Restriction
  on property: treats
  some values from: Skin Rash
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Substances naturally produced by microorganisms or their derivatives that selectively target microorganisms not humans. Antibiotics kill or inhibit the growth of microorganisms by targeting components of the microbial cell absent from human cells, including bacterial cell walls, cell membrane, and 30S or 50S ribosomal subunits. These substances are used in the treatment of bacterial and other microbial infections.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000059
database cross reference: NCIT:C258
hasExactSynonym: Antibiotic Agents
hasExactSynonym: Antibiotic Drug
hasExactSynonym: Antibiotic Drugs
hasExactSynonym: Antibiotics
hasExactSynonym: Antimicrobial
hasExactSynonym: Antimicrobial Agent

Gene Product
type: Class
subclass of: SCDO
subclass of: Restriction
  on property: modified by
  some values from: Mutation
subclass of: Restriction
  on property: modified by
  some values from: Deletion Mutation
subclass of: Restriction
  on property: modified by
  some values from: Point Mutation
definition: A protein, RNA or a complex that contains proteins and/or RNA.
curator note: If additional gene products are included in the future, they can be categorised according to those below this term in the "National Cancer Institute Thesaurus" (NCIT)
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0001343
database cross reference: NCIT:C26548
hasExactSynonym: Genome Encoded Entity

Ataxia
type: Class
subclass of: Abnormal Nervous System Physiology
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Genetic Testing
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Magnetic Resonance Imaging
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Personal Medical History
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Patient Symptom Report
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Test
subclass of: Restriction
  on property: treated with
  some values from: Occupational Therapy
subclass of: Restriction
  on property: treated with
  some values from: Physiotherapy
subclass of: Restriction
  on property: treated with
  some values from: Supportive Therapeutics
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Lack of coordination of muscle movements resulting in the impairment or inability to perform voluntary activities. Causes include peripheral nerve disorders, posterior column injuries, cerebral and cerebellar disorders, basal ganglia disorders, and thalamic disorders.
curator note: Perhaps add "Cerebellar Ataxia" subclass?
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0000087
database cross reference: NCIT:C26702

Hyperbilirubinemia
type: Class
subclass of: Abnormal Circulating Metabolite Concentration
definition: Abnormally high level of bilirubin in the blood. Excess bilirubin is associated with jaundice.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0003118
database cross reference: NCIT:C27088
hasExactSynonym: High Blood Bilirubin Levels

Cerebral Aneurysm
type: Class
subclass of: Abnormality of the Cerebrum
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Magnetic Resonance Imaging
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
definition: A balloon type pouch or bulge in the wall of a cerebral blood vessel.
definition source: details
existence in other ontologies: Sufficient
previous identifier: SCDO:0000202
database cross reference: NCIT:C27222
hasExactSynonym: Brain Aneurysm
hasExactSynonym: Cerebral Artery Aneurysm
hasExactSynonym: Dilatation of the Cerebral Artery
hasExactSynonym: Intracranial Aneurysm

National Origin
type: Class
subclass of: Demographic Factor
subclass of: Socioeconomic Factors
definition: System of classification based on nation from which a person originates, regardless of the nation in which he/she currently resides.
curator note: Include list of nations below.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000792
database cross reference: NCIT:C28407
hasExactSynonym: Birth Country
hasExactSynonym: Country of Birth
hasExactSynonym: Country of Origin

Sex
type: Class
subclass of: Demographic Factor
subclass of: Biological Disease Modifier
definition: The totality of characteristics of reproductive structure, functions, phenotype, and genotype, differentiating the male from the female organism.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000671
database cross reference: NCIT:C28421
hasExactSynonym: Participant Sex
hasExactSynonym: Participant's Sex
hasExactSynonym: Respondent's Sex
hasExactSynonym: Sex of Participant

Sickle Cell Dactylitis
type: Class
subclass of: Abnormality of the Immune System
subclass of: SCD Related Pain
subclass of: Restriction
  on property: caused by
  some values from: Vaso-Occlusion
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A severe acute inflammatory response affecting the hands and feet of individuals with sickle cell disease, sickle cell-hemoglobin C disease or sickle cell-beta-thalassemia. It is caused by vaso-occlusive episodes leading to ischemia and finally infarction of the distal portions of the extremities. Clinical signs of pain, swelling and tenderness of digits usually begin in early childhood and may be the initial manifestations of sickle cell anemia. Clinical course is self-limited with instances typically lasting a few weeks and occurring during sickling crises. An initial episode before the age of 1 strongly correlates with a more severe disease course.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000477
database cross reference: NCIT:C28516

Bacterial Infection
type: Class
subclass of: Infection
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: An acute infectious disorder caused by gram positive or gram negative bacteria. Representative examples include pneumococcal, streptococcal, salmonella and meningeal infections.
curator note: Perhaps use as Disease Modifier?
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000100
database cross reference: NCIT:C2890

Bone Marrow Hyperplasia
type: Class
subclass of: Abnormality of Blood and Blood-Forming Tissues
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
definition: Increase in the number of hematopoietic cells in the bone marrow. It may involve all or individual hematopoietic cell lines.
existence in other ontologies: Sufficient
previous identifier: SCDO:0007438
database cross reference: NCIT:C2905
hasExactSynonym: Hyperplasia of Bone Marrow
hasExactSynonym: Marrow Hyperplasia

Hepatitis B Vaccine
type: Class
subclass of: VO_0000001
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
definition: A non-infectious mixture containing recombinant hepatitis B surface antigen (HBsAg) in a liquid vehicle. Immunization with the hepatitis B vaccine induces the formation of specific anti-hepatitis B antibodies and an active immunity against hepatitis B infection.
existence in other ontologies: Sufficient
previous identifier: SCDO:0008062
database cross reference: NCIT:C29091
hasExactSynonym: ENGERIX-B
hasExactSynonym: Hepatitis B Vaccine (Recombinant)
hasExactSynonym: RECOMBIVAX HB
hasExactSynonym: Recombinant Hepatitis B Vaccine

IV fluids
type: Class
subclass of: Preventative Therapeutics
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: A sterile liquid preparation infused into a vein. IV fluid is prescribed as a replacement of fluid, electrolytes, calories, vitamins, and other nutritional substances. In addition, IV fluids are used to administer blood products and medications such as chemotherapy. Examples of IV fluids include Normal Saline, Ringers Solution, and Lactated Ringers Solution.
existence in other ontologies: Sufficient
previous identifier: SCDO:0005247
database cross reference: NCIT:C29107
hasExactSynonym: Intravenous Fluid

Complication
type: Class
subclass of: Abnormal Phenotype
definition: Any disease or disorder that occurs during the course of, or because of, another disease, treatment, or procedure.
definition source: https://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:1000384
database cross reference: NCIT:C2959
hasExactSynonym: Complications
hasExactSynonym: Medical Complication

Smoking History
type: Class
subclass of: Substance Use History
definition: A record of an individual's background in regard to smoking tobacco. This would include such factors as start date, end date (if applicable), number of cigarette smoked, attempts to quit, and others.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0001081
database cross reference: NCIT:C29719
hasExactSynonym: Tobacco Smoking History

History of Transfusion
type: Class
subclass of: Personal Medical History
definition: An account of all experiences related to the receipt of blood, WBC, platelets, and/or other blood components.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0000569
database cross reference: NCIT:C30142
hasExactSynonym: Transfusion History

Fungal Infection
type: Class
subclass of: Infection
definition: An infection caused by a fungus.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:1000349
database cross reference: NCIT:C3245

Viral Infection
type: Class
subclass of: Infection
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Any disease caused by a virus.
curator note: Perhaps use as Disease Modifier? Add these sub-classes: Hepatitis C Infection (term in NCIT) Hepatitis B Infection (term in NCIT) HIV Infection (term in NCIT)
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0001233
database cross reference: NCIT:C3439
hasExactSynonym: Viral Disease
hasExactSynonym: Virus Disease

Cholecystitis
type: Class
subclass of: Abnormality of the Digestive System
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones.
existence in other ontologies: Sufficient
previous identifier: SCDO:0007856
database cross reference: NCIT:C34465

Peri-Operative Pain
type: Class
subclass of: Pain
definition: A sensation of discomfort secondary to surgery.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:1000451
database cross reference: NCIT:C34887
hasExactSynonym: Perioperative Pain
hasExactSynonym: Post Surgery Pain
hasExactSynonym: Post-Operative Pain
hasExactSynonym: Postoperative Pain

Pregnancy Complication
type: Class
subclass of: Complication
definition: The co-occurrence of pregnancy and a disease. The disease may precede or follow conception and it may or may not have a deleterious effect on the pregnant woman or fetus.
definition source: https://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:1000399
database cross reference: NCIT:C34941
hasExactSynonym: Complication Related to Pregnancy

Thalassemia
type: Class
subclass of: Quantitative Hemoglobinopathy
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Genetic Testing
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Hemoglobin Profile Assay
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
definition: An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001144
database cross reference: NCIT:C35069

Chronic Cholecystitis
type: Class
subclass of: Cholecystitis
subclass of: Chronic Phenotype
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: Cholecystitis that is persistent and long-standing.
existence in other ontologies: Sufficient
previous identifier: SCDO:0009201
database cross reference: NCIT:C35146

Acute Cholecystitis
type: Class
subclass of: Cholecystitis
subclass of: Acute Phenotype
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Acute inflammation of the gallbladder.
existence in other ontologies: Sufficient
previous identifier: SCDO:0008927
database cross reference: NCIT:C35152

Ascending Cholangitis
type: Class
subclass of: Abnormality of the Digestive System
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: Acute infection of the bile ducts caused by bacteria ascending from the small intestine.
existence in other ontologies: Sufficient
previous identifier: SCDO:0008766
database cross reference: NCIT:C35372

Osteonecrosis of the Femoral Head
type: Class
subclass of: Osteonecrosis
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Necrotic changes in the bone tissue of the femoral head due to interruption of blood supply.
curator note: Add description. -- See HPO term "Avascular necrosis of the capital femoral epiphysis". -- -- Perhaps add "Bone decompression by drilling" to therapeutics and link to it with "is treated with
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000842
database cross reference: NCIT:C35447
hasExactSynonym: Avascular Necrosis of Femoral Head
hasExactSynonym: Avascular Necrosis of the Capital Femoral Epiphysis
hasExactSynonym: Avascular Necrosis of the Femoral Head
hasExactSynonym: Avascular Necrosis of the Head of Femur
hasExactSynonym: ONFH

Injury
type: Class
subclass of: Abnormal Phenotype
definition: Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:1000435
database cross reference: NCIT:C3671
hasExactSynonym: Trauma
hasExactSynonym: Wound

Eye Examination
type: Class
subclass of: Physical Examination
definition: A test performed by an ophthalmologist or optometrist assessing vision and ability to focus on and discern objects, as well as other tests and examinations pertaining to the eyes.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001313
database cross reference: NCIT:C38060
hasExactSynonym: Eye Exam

Pulse Oximetry
type: Class
subclass of: Pulmonary Function Test
definition: A non-invasive method that provides estimates of arterial oxyhemoglobin saturation by utilizing selected wavelengths of light to determine the saturation of oxyhemoglobin.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:1000351
database cross reference: NCIT:C38085

Pneumococcal 7-Valent Conjugate Vaccine
type: Class
subclass of: Conjugate Pneumococcal Vaccine
definition: An active immunizing agent used to prevent infection by the bacterium Streptococcus pneumoniae. Pneumococcal 7-valent conjugate vaccine consists of a solution of saccharides of the capsular antigens of Streptococcus serotypes 4, 6B, 9V, 14, 18C, 19F, and 23F individually conjugated to diphtheria CRM 197 protein.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000911
database cross reference: NCIT:C38141
hasExactSynonym: 7 Valent PncOMPC Vaccine
hasExactSynonym: 7-Valent PncOMPC Vaccine
hasExactSynonym: Heptavalent Pneumococcal Conjugate Vaccine
hasExactSynonym: PCV 7
hasExactSynonym: PCV7 Vaccine
hasExactSynonym: Pneumococcal 7-Valent Conjugate Vaccine (Diphtheria CRM197 Protein)
hasExactSynonym: Prevenar
hasExactSynonym: Prevnar
hasExactSynonym: Seven Valent Pneumococcal PS Meningococcal OMPC Conjugate Vaccine
hasExactSynonym: Seven-Valent Pneumococcal PS-Meningococcal OMPC Conjugate Vaccine

Asymptomatic
type: Class
subclass of: Phenotype
definition: Without clinical signs or indications that raise the possibility of a particular disorder or dysfunction.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0004802
database cross reference: NCIT:C3833
hasExactSynonym: No Symptoms

Hyperviscosity
type: Class
subclass of: Abnormality of Blood and Blood-Forming Tissues
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: An increase in the viscosity of blood resulting from an increase in the proportion of cellular elements of the blood, a change in the mechanical properties of the cellular elements of the blood, and/or an alteration in plasma viscosity.
existence in other ontologies: Sufficient
previous identifier: SCDO:0002771
database cross reference: NCIT:C38698
hasExactSynonym: Blood Hyperviscosity
hasExactSynonym: Hypercoagulability
hasExactSynonym: Thrombophilia

Hypoxia
type: Class
subclass of: Abnormality of the Respiratory System
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A decrease in the amount of oxygen in the body. Symptoms range from mild (impaired judgment, memory loss, impaired motor coordination) to severe (seizures and coma). In SCD patients, this is considered as saturated oxygen < 95% on air.
curator note: Have merged the definition of hypoxia from NCIT and the Tanzanian Management Guidelines. Not sure if the SaO2 value is specific to SCD patients - please get a clinician to review. This is a symptom of acute chest syndrome.
definition source: SCD Management guidelines - Tanzania
existence in other ontologies: Sufficient
previous identifier: SCDO:0004183
database cross reference: NCIT:C3890

Treatment Efficacy
type: Class
subclass of: Association
definition: The probability of benefit to individuals in a defined population from a medical technology applied for a given medical problem under ideal conditions of use. Efficacy is a measure of effect of therapy among appropriate patients in whom treatment is tolerated and effectively administered, under the condition of sufficient patients' compliance, usually determined in randomized trials.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:1000156
database cross reference: NCIT:C39547
hasExactSynonym: Clinical Efficacy

Ethics
type: Class
subclass of: Research
definition: The philosophical study of moral values and rules. Ethics is a general term for what is often described as the "science of morality". The Western tradition of ethics is sometimes called moral philosophy. This is one of the three major branches of philosophy, alongside metaphysics and logic.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
definition source: http://purl.bioontology.org/ontology/MESH/D004989
existence in other ontologies: Sufficient
previous identifier: SCDO:0300001
database cross reference: NCIT:C39796
hasExactSynonym: Moral Philosophy
hasExactSynonym: Natural Law

Beck Depression Inventory-II (BDI-II)
type: Class
subclass of: Quality of Life Measure
subclass of: SCDO_1000297
definition: The BDI-II is the most widely used instrument for measuring depression. It consists of 21 items to assess the intensity of depression in clinical and normal patients. Each item is a list of four statements arranged in increasing severity about a particular symptom of depression, and rated on a scale of 0 to 3.
definition source: Beck A.T., Ward C. H., Mendelson M., Mock J., & Erbaugh J. (1961) An inventory for measuring depression. Archives of General Psychiatry, 4, 561-571.
has cross-cultural adaptation: Multiple countries and cultural groups
has respondents: Self
has target population: Clinic Patients
has translations: Spanish
validated for age ranges: 13 years and older
freely available: yes
existence in other ontologies: Sufficient
previous identifier: SCDO:0000103
database cross reference: NCIT:C40438
hasExactSynonym: BDI-II
hasExactSynonym: Beck Depression Inventory
hasExactSynonym: Beck Depression Inventory-II

Telephone Number
type: Class
subclass of: Personal Attribute
definition: A sequence of decimal digits (0-9) that is used for identifying a destination telephone line or other device in a telephone network.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000881
database cross reference: NCIT:C40978
hasExactSynonym: Phone
hasExactSynonym: Phone Number
hasExactSynonym: Telephone

deprecated Region
type: Class
subclass of: deprecated terms
definition: An area or portion of something with more or less definite boundaries designed or specified according to some established biological, administrative, economic, demographic, etc. criteria.
term replaced by: SCDO_1000367
curator note: It didn't have sense to have this term as a sub-class of "Major Area", which has also been deprecated.
existence in other ontologies: Sufficient
previous identifier: SCDO:0006934
database cross reference: NCIT:C41129
deprecated: true

Degree Celsius
type: Class
subclass of: UO_0000005
definition: A unit of temperature of the temperature scale designed so that the freezing point of water is 0 degrees and the boiling point is 100 degrees at standard atmospheric pressure. The current official definition of the Celsius sets 0.01 C to be at the triple point of water and a degree to be 1/273.16 of the difference in temperature between the triple point of water and absolute zero. One degree Celsius represents the same temperature difference as one Kelvin.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000713
database cross reference: NCIT:C42559
hasExactSynonym: C
hasExactSynonym: Celsius
hasExactSynonym: Celsius Degree
hasExactSynonym: Celsius Temperature
hasExactSynonym: Degree C
hasExactSynonym: Degree Centigrade
hasExactSynonym: Degrees C
hasExactSynonym: Degrees Celsius

Association
type: Class
subclass of: SCDO
definition: An association is a non-hierarchical, named relationship between a source and target concept that does not affect classification and is not inherited by child concepts during classification. Associations are bidirectional and have a stated inverse. Unlike roles, associations do not have a domain or range.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0005031
database cross reference: NCIT:C43646

NA
type: Class
subclass of: Clinical or Research Assessment Answer
definition: Determination of a value is not relevant in the current context.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000770
database cross reference: NCIT:C48660
hasExactSynonym: Not Applicable

Diagnostic Histology Test
type: Class
subclass of: Physiological Assay
definition: A diagnostic test used to examine and define microscopic tissue structure, composition, or etiology. The test results are often used by a clinician to diagnose disease or disordered function.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0004740
database cross reference: NCIT:C49131
hasExactSynonym: Histologic Test

Breaths per Minute
type: Class
subclass of: UO_0000280
definition: The number of breaths (inhalation and exhalation) taken per minute time.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000716
database cross reference: NCIT:C49674
hasExactSynonym: Breaths/Minute
hasExactSynonym: bpm
hasExactSynonym: breaths/min
hasExactSynonym: {BREATHS}/min
hasExactSynonym: {breaths}/min

Bradypnea
type: Class
subclass of: Abnormality of the Respiratory System
definition: Abnormal decrease of rate of breathing.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000293
database cross reference: NCIT:C50474
hasExactSynonym: Decreased Respiratory Rate

Tachypnea
type: Class
subclass of: Abnormality of the Respiratory System
definition: Abnormal increase of rate of breathing.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000347
database cross reference: NCIT:C50767
hasExactSynonym: Fast Breathing
hasExactSynonym: Increased Respiratory Rate

Urinary Tract Infection
type: Class
subclass of: Infection
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine.
existence in other ontologies: Sufficient
previous identifier: SCDO:0007744
database cross reference: NCIT:C50791

Liver Biopsy
type: Class
subclass of: Diagnostic Technique, Method, Test or Assay
definition: Removal of tissue from the liver for microscopic examination.
curator note: Use relevant object property to link to "Elevated Hepatic Iron Concentration".
existence in other ontologies: Sufficient
previous identifier: SCDO:0000693
database cross reference: NCIT:C51677

Married
type: Class
subclass of: Clinical or Research Assessment Answer
definition: Indicates a person currently joined in a legally binding matrimonial union. Classify common law marriage as married. Includes married couples living together and not living together.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000674
database cross reference: NCIT:C51773
hasExactSynonym: Married Status

Never Been Married
type: Class
subclass of: Clinical or Research Assessment Answer
definition: Indicates a person who has never been married or whose marriages have been annulled.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000678
database cross reference: NCIT:C51774
hasExactSynonym: Never Been Married/Annulled
hasExactSynonym: Never Married
hasExactSynonym: Never Married Status

Widowed
type: Class
subclass of: Clinical or Research Assessment Answer
definition: Indicates a person who is no longer married because of the death of his/her spouse and has not remarried.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000675
database cross reference: NCIT:C51775
hasExactSynonym: Widowed Status

Divorced
type: Class
subclass of: Clinical or Research Assessment Answer
definition: Indicates a person whose marriage has been legally dissolved and has not remarried.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000676
creator: SCDO (Jade Hotchkiss)
database cross reference: NCIT:C51776

Gentamicin
type: Class
subclass of: Antibiotic
subclass of: Restriction
  on property: treats
  some values from: Cholelithiasis
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
definition: A broad-spectrum aminoglycoside antibiotic produced by fermentation of Micromonospora purpurea or M. echinospora. Gentamicin is an antibiotic complex consisting of four major (C1, C1a, C2, and C2a) and several minor components. This agent irreversibly binds to the bacterial 30S ribosomal subunit. Specifically, this antibiotic is lodged between 16S rRNA and S12 protein within the 30S subunit. This leads to interference with translational initiation complex, misreading of mRNA, thereby hampering protein synthesis and resulting in bactericidal effect. Aminoglycosides are mostly ineffective against anaerobic bacteria, fungi and viruses.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001259
database cross reference: NCIT:C519
hasExactSynonym: Garamicin
hasExactSynonym: Garamycin
hasExactSynonym: Genoptic
hasExactSynonym: Genoptic S.O.P.
hasExactSynonym: Gentamycin
hasExactSynonym: Gentamycin Complex
hasExactSynonym: U-Gencin

Antibiotic Prophylaxis
type: Class
subclass of: Infection Prophylaxis
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
definition: Administration of antibiotics with the intent of preventing bacterial infection.
existence in other ontologies: Sufficient
previous identifier: SCDO:0006790
database cross reference: NCIT:C51993
comment: Is recommended, particularly up to the age of 5 years, to prevent bacterial infections in SCD patients.

Amniocentesis
type: Class
subclass of: Prenatal Screening for Sickle Cell
definition: A prenatal diagnostic procedure in which a small sample of amniotic fluid is removed from the uterus by a needle inserted into the abdomen. This procedure is used to detect various genetic abnormalities in the fetus and/or the sex of the fetus.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000048
database cross reference: NCIT:C52009
hasExactSynonym: Amniotic Fluid Testing

Ibuprofen
type: Class
subclass of: Non-Steroidal Anti-Inflammatory Drug
subclass of: Antipyretic
subclass of: Restriction
  on property: treats
  some values from: Cervical Cord Compression
subclass of: Restriction
  on property: treats
  some values from: Sickle Cell Disease-S Beta Minus Thalassemia
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A propionic acid derivate and nonsteroidal anti-inflammatory drug (NSAID) with anti-inflammatory, analgesic, and antipyretic effects. Ibuprofen inhibits the activity of cyclo-oxygenase I and II, resulting in a decreased formation of precursors of prostaglandins and thromboxanes. This leads to decreased prostaglandin synthesis, by prostaglandin synthase, the main physiologic effect of ibuprofen. Ibuprofen also causes a decrease in the formation of thromboxane A2 synthesis, by thromboxane synthase, thereby inhibiting platelet aggregation.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0000606
dc:source: http://www.drugbank.ca/drugs/DB01050
database cross reference: NCIT:C561
hasExactSynonym: 2-[4-(2-methylpropyl)phenyl]propanoic acid
hasExactSynonym: Advil
hasExactSynonym: Ibuprophen
hasExactSynonym: Motrin

Ketamine
type: Class
subclass of: Drug
definition: A cyclohexanone derivative with analgesic and anesthetic properties. Although its mechanism of action is not well understood, ketamine appears exerts complex pharmacological actions including inhibition of biogenic amine uptake, binding to opioid receptors, and inhibition of N-methyl D-aspartate (NMDA) receptors. Because of the involvement of spinal NMDA receptors in the process of central sensitization, this agent may reduce pain perception and induce sedation.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:1000450
database cross reference: NCIT:C61797

Amitriptyline
type: Class
subclass of: Drug
subclass of: Symptomatic Therapeutics
subclass of: Restriction
  on property: treats
  some values from: Chronic Neuropathic Pain
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: A derivative of dibenzocycloheptadiene and a tricyclic antidepressant. Amitriptyline inhibits the re-uptake of norepinephrine and serotonin by the presynaptic neuronal membrane in the central nervous system (CNS), thereby increasing the synaptic concentration of norepinephrine and serotonin. Due to constant stimulation to these receptors, amitriptyline may produce a downregulation of adrenergic and serotonin receptors, which may contribute to the antidepressant activity.
curator note: Used to treat neuropathic pain
existence in other ontologies: Sufficient
previous identifier: SCDO:0004190
database cross reference: NCIT:C62005

Nonsense Mutation
type: Class
subclass of: Point Mutation
definition: A point mutation occurring within the protein-coding region of a gene, and which codes for a stop that can truncate the protein.
existence in other ontologies: Sufficient
previous identifier: SCDO:0003789
database cross reference: NCIT:C62198
hasExactSynonym: Premature Termination Abnormality
hasExactSynonym: Premature Termination Mutation

Point Mutation
type: Class
subclass of: Mutation
subclass of: Restriction
  on property: modifies
  some values from: Gene Product
definition: A small scale mutation caused by the substitution of a single nucleotide for another nucleotide.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001372
database cross reference: NCIT:C62200

Haplotype
type: Class
subclass of: Genotype
definition: A way of denoting the collective genotype of a number of closely linked loci on a chromosome.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0007716
database cross reference: NCIT:C63547

Millimole per Liter
type: Class
subclass of: UO_0000051
definition: A unit of concentration (molarity unit) equal to one millimole of solute per liter of solution.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000899
database cross reference: NCIT:C64387
hasExactSynonym: Millimolar
hasExactSynonym: mM
hasExactSynonym: mmol/L

microgram per millilitre
type: Class
subclass of: UO_0000180
definition: A metric unit of mass concentration defined as the concentration of one gram of a substance per unit volume of the mixture equal to one cubic meter. The concept also refers to the metric unit of mass density (volumic mass) defined as the density of a substance which mass equal to one gram occupies the volume of one cubic meter.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000505
database cross reference: NCIT:C64572
hasExactSynonym: Gram per Cubic Meter
hasExactSynonym: Microgram per Milliliter
hasExactSynonym: Microgram/Milliliter
hasExactSynonym: Milligram per Cubic Decimeter
hasExactSynonym: Milligram per Liter
hasExactSynonym: Nanogram per Microliter
hasExactSynonym: g/m3
hasExactSynonym: gram(s)/cubic meter
hasExactSynonym: gram/cubic meter
hasExactSynonym: mcg/mL
hasExactSynonym: mg/L
hasExactSynonym: mg/dm3
hasExactSynonym: mg/l
hasExactSynonym: microgram per milliliter
hasExactSynonym: microgram per millilitre
hasExactSynonym: microgram(s)/millilitre
hasExactSynonym: microgram/millilitre
hasExactSynonym: milligram per liter
hasExactSynonym: milligram(s)/litre
hasExactSynonym: ng/uL
hasExactSynonym: ug/mL
hasExactSynonym: ug/ml
hasExactSynonym: µg/mL

Pregabalin
type: Class
subclass of: Non Opioid
subclass of: Restriction
  on property: treats
  some values from: Chronic Neuropathic Pain
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A 3-isobutyl derivative of gamma-amino butyric acid (GABA) with anti-convulsant, anti-epileptic, anxiolytic, and analgesic activities. Although the exact mechanism of action is unknown, pregabalin selectively binds to alpha2delta (A2D) subunits of presynaptic voltage-dependent calcium channels (VDCCs) located in the central nervous system (CNS). Binding of pregabalin to VDCC A2D subunits prevents calcium influx and the subsequent calcium-dependent release of various neurotransmitters, including glutamate, norepinephrine, serotonin, dopamine, and substance P, from the presynaptic nerve terminals of hyperexcited neurons; synaptic transmission is inhibited and neuronal excitability is diminished. Pregabalin does not bind directly to GABA-A or GABA-B receptors and does not alter GABA uptake or degradation.
existence in other ontologies: Sufficient
previous identifier: SCDO:0008454
database cross reference: NCIT:C64625
hasExactSynonym: 3-(Aminomethyl)-5-methyl-hexanoic Acid
hasExactSynonym: 3-Isobutyl GABA
hasExactSynonym: CI 1008
hasExactSynonym: Lyrica
hasExactSynonym: PD 144723

g/dL
type: Class
subclass of: UO_0000180
definition: A unit of mass concentration defined as the concentration of one gram of a substance per unit volume of the mixture equal to one deciliter (100 milliliters). The concept also refers to the metric unit of mass density (volumic mass) defined as the density of substance which mass equal to one gram occupies the volume one deciliter.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000620
database cross reference: NCIT:C64783
hasExactSynonym: Gram per Deciliter
hasExactSynonym: Gram/Deciliter
hasExactSynonym: g/dl
hasExactSynonym: gram per deciliter

mg/dL
type: Class
subclass of: UO_0000180
definition: A unit of mass concentration defined as the concentration of one milligram of a substance in unit volume of the mixture equal to one cubic deciliter or 100 cubic centimeters. It is also a unit of mass density (volumic mass) defined as the density of substance which mass equal to one milligram occupies the volume one cubic deciliter or 100 cubic centimeters.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000646
database cross reference: NCIT:C67015
hasExactSynonym: Milligram per Deciliter
hasExactSynonym: Milligram/Deciliter
hasExactSynonym: mg/dl

thousand cells per microliter
type: Class
subclass of: UO_0000316
definition: A unit of cell concentration expressed as a number of cells in thousands per unit volume equal to one microliter.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000511
database cross reference: NCIT:C67244
hasExactSynonym: 1000 cells/µL
hasExactSynonym: 10E3 Cells/uL
hasExactSynonym: 10^3 Cells/uL
hasExactSynonym: 10^3{Cells}/uL
hasExactSynonym: Thousand Cells per Microliter
hasExactSynonym: Thousand Cells/cu mm;
hasExactSynonym: thousand cells per microliter
hasExactSynonym: thousand cells/µL
hasExactSynonym: thousands/µL

million cells per microliter
type: Class
subclass of: UO_0000316
definition: A unit of cell concentration expressed as a number of cells in millions per unit volume equal to one microliter.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000504
database cross reference: NCIT:C67251
hasExactSynonym: 10E6 cells/uL
hasExactSynonym: 10^6 Cells/uL
hasExactSynonym: 10^6{Cells}/uL
hasExactSynonym: Million Cells per Microliter
hasExactSynonym: Million Cells/cu mm
hasExactSynonym: million cells per microliter
hasExactSynonym: million cells per microlitre
hasExactSynonym: million cells/µL

IU/L
type: Class
subclass of: UO_0000051
definition: Unit of arbitrary substance concentration (biologic activity concentration) defined as the concentration of one international unit per one liter of the system volume.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000658
database cross reference: NCIT:C67376
hasExactSynonym: IE/L
hasExactSynonym: International Unit per Liter
hasExactSynonym: International Unit per Litre
hasExactSynonym: International Unit/Liter
hasExactSynonym: International Unit/Litre
hasExactSynonym: Microinternational Unit per Microliter
hasExactSynonym: Milliinternational Unit per Milliliter

Birth Date
type: Class
subclass of: Demographic Factor
subclass of: SCDO_1000537
definition: The calendar date on which a person was born.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000544
database cross reference: NCIT:C68615
hasExactSynonym: BD
hasExactSynonym: DOB
hasExactSynonym: Date of Birth

Subject Unique Identifier
type: Class
subclass of: Personal Attribute
subclass of: Epidemiologic Study Characteristics
subclass of: Research Characteristics
definition: A unique identifier for a subject in a study.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000469
database cross reference: NCIT:C69256
hasExactSynonym: Participant ID
hasExactSynonym: Participant Identifier
hasExactSynonym: Participant Number
hasExactSynonym: Research Subject ID
hasExactSynonym: Subject ID
hasExactSynonym: Subject Identification Code
hasExactSynonym: Subject Identifier
hasExactSynonym: Subject UID
hasExactSynonym: Subject Unique Identifier
hasExactSynonym: Subject's Unique Identifier
hasExactSynonym: Subject.identifier
hasExactSynonym: SubjectIdentifier
hasExactSynonym: USUBJID
hasExactSynonym: Unique Subject Identifier
comment: The unique identification of a subject in a specified context. NOTE(S): This class is a resolution of the requirement for noting the type of an identifier which is not handled by the purely technical HL7 II data type.; A unique symbol that establishes identity of the subject. EXAMPLE(S): study subject number 7 on a specific study OTHER NAME(S): NOTE(S):; Unique Identifier of patient or fetus who is the subject of observations.; The unique identification of a subject in a specified context.

Clinical Trial Subject Unique Identifier
type: Class
subclass of: Subject Unique Identifier
definition: A unique identifier assigned to each clinical trial subject to protect the subject's identity and used in lieu of the subject's name when the investigator reports adverse events and/or other trial-related data.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000002
database cross reference: NCIT:C70731
hasExactSynonym: Clinical Study Subject Unique Identifier
hasExactSynonym: Clinical Trial Subject Unique Identifier

Study Protocol
type: Class
subclass of: Research Characteristics
definition: The formal plan of an experiment or research activity, including the objective, rationale, design, materials and methods for the conduct of the study; intervention description, and method of data analysis.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:1000096
database cross reference: NCIT:C70817

Abdominal Ultrasound
type: Class
subclass of: Ultrasound Test
definition: A method of ultrasound imaging in which the ultrasound probe is pressed against the skin of the abdomen in order to create an image of the abdominal organs.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000005
database cross reference: NCIT:C71375
hasExactSynonym: Abdominal Sonogram
hasExactSynonym: TUS
hasExactSynonym: Transabdominal Ultrasound

Vascular Access Device Complications
type: Class
subclass of: Device Complication
definition: Difficulties related to an apparatus used to gain access to arteries and veins.
definition source: https://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:1000389
database cross reference: NCIT:C71746

Anonymous
type: Class
subclass of: Confidentiality
definition: Having no known name or identity or known source.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0007242
database cross reference: NCIT:C71754

Voluntary
type: Class
subclass of: Research Characteristics
definition: Of your own free will or design; not forced or compelled; controlled by individual volition.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0001874
database cross reference: NCIT:C74096

Liver Function Test
type: Class
subclass of: Physiological Assay
definition: The quantitative measurement of liver enzymes in the blood, which is useful in assessing the functional state of a patient's liver. Liver function tests include the measurement of albumin, alanine transaminase, aspartate transaminase, alkaline phosphatase, bilirubin, and gamma glutamyl transferase.
curator note: Other LFTs to be added here? There are more in NCIT
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
has protocol: PhenX protocol: Liver Function - Assay #190801
existence in other ontologies: Sufficient
previous identifier: SCDO:0000695
database cross reference: NCIT:C74954
hasExactSynonym: LFT
hasExactSynonym: Liver Function Assay
hasExactSynonym: Liver Function Assays
hasExactSynonym: Liver Function Tests

Hemoglobin Subunit Alpha
type: Class
subclass of: Alpha-Globin Family Members
definition: Hemoglobin subunit alpha (142 aa, ~15 kDa) is encoded by both the human HBA1 and human HBA2 genes. This protein plays a role in the distribution of oxygen from the lungs to other organs and tissues.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:1000365
database cross reference: NCIT:C75434
hasExactSynonym: Alpha Globin
hasExactSynonym: Alpha-Globin
hasExactSynonym: Alpha-Globin Chain
hasExactSynonym: Haemoglobin Alpha Chain
hasExactSynonym: Haemoglobin Subunit Alpha
hasExactSynonym: Hemoglobin Alpha Chain
hasExactSynonym: Hemoglobin Subunit Alpha

Slit-Lamp Examination
type: Class
subclass of: Eye Examination
subclass of: Restriction
  on property: uses diagnostic device
  some values from: Slit Lamp
definition: Examination of the anterior segment of the eye using a medical instrument called a slit lamp.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0001078
database cross reference: NCIT:C75583
hasExactSynonym: SLIT LAMP
hasExactSynonym: Slit-Lamp Biomicroscopy
hasExactSynonym: Slit-Lamp Eye Exam

Device Complication
type: Class
subclass of: Complication
definition: Any problem arising from the use of a medical device.
definition source: https://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:1000385
database cross reference: NCIT:C78254

Iron Overload
type: Class
subclass of: Abnormality of Metabolism/Homeostasis
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Accumulation of iron in the tissues. It may be a manifestation of an inherited disorder (e.g., hemochromatosis) or acquired (in patients with repeated blood transfusions). Symptoms include hepatomegaly, arthritis, diabetes mellitus, and bronzed skin. If untreated it has a progressive course and may lead to death.
curator note: Perhaps suggest that NCIT merges this term with "Hemochromatosis", which they have as a separate term. Sub-classes need to be worked on further. Consider sub-classes of "hemochromatosis" in the DO. Include Hemosiderosis as a sub-class?
existence in other ontologies: Sufficient
previous identifier: SCDO:0001945
database cross reference: NCIT:C78393
hasExactSynonym: Diabetes Bronze
hasExactSynonym: Haemochromatosis
hasExactSynonym: Hemochromatosis
hasExactSynonym: Iron Storage Disorder

Posterior Reversible Leukoencephalopathy
type: Class
subclass of: Abnormal Nervous System Physiology
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment.
existence in other ontologies: Sufficient
previous identifier: SCDO:0007836
database cross reference: NCIT:C78598
hasExactSynonym: Reversible Posterior Leukoencephalopathy Syndrome

Thrombus in Catheter
type: Class
subclass of: Device Complication
definition: The development of a blood clot in a catheter.
definition source: https://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:1000388
database cross reference: NCIT:C78638

Pediatric Quality of Life Inventory (PedsQL)
type: Class
subclass of: Quality of Life in Sickle Cell Disease Measure
definition: A parent report or patient self report for measuring health-related quality of life (HRQOL) in healthy children and adolescents and those with acute and chronic health conditions. The PedsQL Measurement Model uses a modular approach that integrates both generic core scales and disease-specific modules into one measurement system. (Copyright 1998-2008 James W. Varni, Ph.D.)
definition source: http://bioportal.bioontology.org/ontologies/NCIT
has respondents: Self; Proxy (Parent report)
has target population: Clinic patients
has translations: Many measures available in Spanish, French and Portuguese
validated for age ranges: Toddlers; Children; Adolescents
freely available: yes
existence in other ontologies: Sufficient
previous identifier: SCDO:0000875
dc:source: Varni, J. W., Seid, M., and Kurtin, P. S. (2001). PedsQL 4.0: Reliability and validity of the 86 pediatric quality of life inventory version 4.0 generic core scales in healthy and patient populations. Medical Care, 39, 800-812.
database cross reference: NCIT:C78652
hasExactSynonym: Pediatric Quality of Life Inventory
hasExactSynonym: PedsQL

Blood Smear
type: Class
subclass of: Blood Test
definition: A sample of blood applied in a thin film to a microscope slide for study under a microscope.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0008915
database cross reference: NCIT:C79903

Right Heart Catheterization
type: Class
subclass of: Heart Function Test
subclass of: Restriction
  on property: uses diagnostic device
  some values from: Catheter
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: A diagnostic procedure in which a catheter is guided into the right heart, where pressures may be measured and radiocontrast material may be injected to visualize blood flow in and around the right heart.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0001012
database cross reference: NCIT:C80411
hasExactSynonym: Pulmonary Artery Catheterization
hasExactSynonym: Swan-Ganz Catheterization

Alcohol Use History
type: Class
subclass of: Substance Use History
definition: A description of an individual's current and past experience with alcoholic beverage consumption.
curator note: Add other terms in the PhenX "Alcohol Use" collection?
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000040
database cross reference: NCIT:C81229

Medical Record Number
type: Class
subclass of: Subject Unique Identifier
definition: An identifying number within an institution that is used to reference a subject's medical information.
definition source: C81262
existence in other ontologies: Sufficient
previous identifier: SCDO:1000853
database cross reference: NCIT:C81262

Mild Anemia
type: Class
subclass of: Anemia
definition: Anemia not associated with symptoms of fatigue, headaches, palpitations, or shortness of breath. In asymptomatic anemia the hematocrit levels usually range from 32 to 35%.
existence in other ontologies: Sufficient
previous identifier: SCDO:0003672
database cross reference: NCIT:C82909

Visit Date
type: Class
subclass of: Information on Observation Details
subclass of: SCDO_1000537
definition: The date on which a visit occurred.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000540
database cross reference: NCIT:C83031
hasExactSynonym: Clinical Visit Date

Hereditary Hemochromatosis
type: Class
subclass of: Iron Overload
definition: An inherited metabolic disorder characterized by iron accumulation in the tissues.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000512
database cross reference: NCIT:C84481
hasExactSynonym: Congenital Haemochromatosis
hasExactSynonym: Hereditary Haemochromatosis
hasExactSynonym: Iron Overload Disease
hasExactSynonym: Primary Haemochromatosis

Hemoglobin Subunit Epsilon
type: Class
subclass of: Beta-Globin Family Members
definition: Hemoglobin subunit epsilon (147 aa, ~16 kDa) is encoded by the human HBE1 gene. This protein plays a role in the transport of oxygen to tissues of the embryo.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001381
database cross reference: NCIT:C84979
hasExactSynonym: Epsilon-Globin
hasExactSynonym: Haemoglobin Epsilon Chain
hasExactSynonym: Haemoglobin Subunit Epsilon
hasExactSynonym: Hemoglobin Epsilon Chain

Hemoglobin Subunit Delta
type: Class
subclass of: Beta-Globin Family Members
definition: A type of polypeptide chain that when in combination with alpha globin polypeptide chains forms adult hemoglobin 2 (HbA2). HbA2 comprises around 3% of adult hemoglobin. Hemoglobin subunit delta (147 aa, ~16 kDa) is encoded by the human HBD gene. This protein plays a role in the transport of oxygen to tissues of the adult body.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
definition source: https://www.ncbi.nlm.nih.gov/gene/3045
existence in other ontologies: Sufficient
previous identifier: SCDO:1000011
database cross reference: NCIT:C84980
hasExactSynonym: Delta Globin
hasExactSynonym: Delta-Globin
hasExactSynonym: Haemoglobin Delta Chain
hasExactSynonym: Haemoglobin Subunit Delta
hasExactSynonym: Hemoglobin Delta Chain

Hemoglobin Subunit Beta
type: Class
subclass of: Beta-Globin Family Members
definition: Hemoglobin subunit beta (147 aa, ~16 kDa) is encoded by the human HBB gene. This protein plays a role in the transport of oxygen to tissues of the adult body.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:1000358
database cross reference: NCIT:C84983
hasExactSynonym: Beta Globin
hasExactSynonym: Beta Globin Chain
hasExactSynonym: Beta-Globin
hasExactSynonym: Beta-Globin Chain
hasExactSynonym: HBB
hasExactSynonym: Haemoglobin Beta Chain
hasExactSynonym: Haemoglobin Subunit Beta
hasExactSynonym: Hemoglobin Beta Chain

Spirometry
type: Class
subclass of: Pulmonary Function Test
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: uses diagnostic device
  some values from: Spirometer
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Measurement of the breathing capacity of the lung by means of a spirometer.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0001100
database cross reference: NCIT:C85397

Methemoglobin
type: Class
subclass of: Hemoglobin
definition: A product of hemoglobin produced by oxidation of the iron atom from the ferrous to the ferric state.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000167
database cross reference: NCIT:C86008
hasExactSynonym: MetHb

Clinical or Research Assessment Questionnaire
type: Class
subclass of: SCDO_1000472
definition: An instrument consisting of a predetermined set of questions for a clinical or research assessment.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000476
database cross reference: NCIT:C91105

Clinical or Research Assessment Answer
type: Class
subclass of: SCDO_1000472
definition: A statement (either spoken or written) that is made in reply to a clinical research assessment question.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000473
database cross reference: NCIT:C91106
hasExactSynonym: Clinical or Research Assessment Response

Chorionic Villus Sampling
type: Class
subclass of: Prenatal Screening for Sickle Cell
definition: The biopsy of placental tissue containing the chorionic villi from the maternal uterus in early pregnancy to diagnose fetal genetic defects.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000223
database cross reference: NCIT:C92755
hasExactSynonym: CVS

Genetic Screening
type: Class
subclass of: Genetic Testing
definition: Testing to determine if there is a predisposition or indication of a possible genetic or a chromosomal abnormality.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000446
database cross reference: NCIT:C92803

Postpartum Hemorrhage
type: Class
subclass of: Abnormality of Prenatal Development or Birth
subclass of: Abnormality of Blood and Blood-Forming Tissues
subclass of: Pregnancy Complication
subclass of: Restriction
  on property: treated with
  some values from: Blood Transfusion
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
definition: Hemorrhage defined as a blood loss in excess of 500 mL after vaginal delivery or more than 1000 mL after a cesarean delivery.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0000916
database cross reference: NCIT:C92853

Study Outcome Measurement
type: Class
subclass of: Research Characteristics
definition: Specific key measurement(s) or observation(s) used to measure the effect of experimental variables on the subjects in a study, or for observational studies, to describe patterns of diseases or traits or associations with exposures, risk factors or treatment. The specific measure that receives the most emphasis in assessment.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0001116
database cross reference: NCIT:C93407
hasExactSynonym: Study Outcome Measure

Acute Pancreatitis
type: Class
subclass of: Abnormality of the Digestive System
subclass of: Acute Phenotype
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs.
existence in other ontologies: Sufficient
previous identifier: SCDO:0005115
database cross reference: NCIT:C95437

Hemoglobin H Disease
type: Class
subclass of: Alpha Thalassemia
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Hemoglobin Profile Assay
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Gap PCR
subclass of: Restriction
  on property: treated with
  some values from: Antibiotic
subclass of: Restriction
  on property: treated with
  some values from: Blood Transfusion
subclass of: Restriction
  on property: treated with
  some values from: Iron Chelation Therapy
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Recessive
subclass of: Restriction
  on property: modified by
  some values from: Beta Thalassemia Trait
subclass of: Restriction
  on property: has causal genotype
  some values from: Alpha Thalassemia Genotype
subclass of: Restriction
  on property: has manifestation
  some values from: Chronic Hemolytic Anemia
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Reduced Alpha/Gamma Synthesis Ratio
definition: A form of alpha thalassemia that results from reduced protein production from three of the four alpha-globin genes. Clinically it is characterized by chronic hemolytic anemia.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000534
database cross reference: NCIT:C95504
hasExactSynonym: Alpha-Thalassemia Intermedia
hasExactSynonym: Haemoglobin H Disease
hasExactSynonym: Hb H-Disease

Hemoglobin Trait
type: Class
subclass of: Hemoglobinopathy
definition: A condition in which a person is heterozygous for a globin gene, with one normal allele and one defective allele.
curator note: NCIT includes this class below "Hemoglobinopathy", hence its inclusion here.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000550
database cross reference: NCIT:C95534
hasExactSynonym: Heterozygous Hemoglobinopathy

Alpha Thalassemia Trait
type: Class
subclass of: Thalassemia Trait
subclass of: Restriction
  on property: modifies
  some values from: Clinical Phenotype of Beta Thalassemia
subclass of: Restriction
  on property: modifies
  some values from: Phenotype of Sickle Cell Disease
subclass of: Restriction
  on property: has causal genotype
  some values from: Alpha Thalassemia Genotype
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: Alpha-Globin Locus Deletion
subclass of: Restriction
  on property: has manifestation
  some values from: Asymptomatic
definition: A condition in which a person has reduced protein production from two of the four alpha-globin alleles.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000044
dc:source: Alpha Thalassemia
database cross reference: NCIT:C95535
hasExactSynonym: Alpha-Thalassemia Trait
comment: -/- alpha/alpha or -/alpha -/alpha. It can exist in two forms: (1) alpha-thal-1 (alpha alpha/--), involves cis deletion of both alpha genes on the same chromosome; (2) alpha-thal-2 (alpha-/alpha-), involves trans deletion of alpha genes this occurs on different (homologous) chromosomes.

Alpha Thalassemia Silent Carrier
type: Class
subclass of: Thalassemia Trait
subclass of: Restriction
  on property: has causal genotype
  some values from: Alpha Thalassemia Genotype
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: Alpha-Globin Locus Deletion
subclass of: Restriction
  on property: has manifestation
  some values from: Asymptomatic
definition: A condition in which a person has reduced protein production from one of the four alpha-globin alleles.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000043
dc:source: Alpha Thalassemia
database cross reference: NCIT:C95536
hasExactSynonym: Alpha Thalassemia Silent
hasExactSynonym: Alpha-Thalassemia Silent Carrier

Sickle Beta Thalassemia
type: Class
subclass of: Sickle Cell Thalassemia
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Genetic Testing
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Smear
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Hemoglobin Profile Assay
subclass of: Restriction
  on property: has mode of inheritance
  some values from: SCDO_1000243
subclass of: Restriction
  on property: has causal genotype
  some values from: Hemoglobin Genotype S/Beta Thalassemia
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: Beta Thalassemia Mutation
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Reduced Beta/Alpha Synthesis Ratio
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: SCDO_1000240
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
definition: A compound heterozygous state in which a person has a hemoglobin S allele along with a beta-thalassemia allele. The severity of the condition is determined to a large extent by the quantity of normal hemoglobin produced by the beta-thalassemia gene.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0001057
database cross reference: NCIT:C95539
hasExactSynonym: Hb S-Beta Thalassemia
hasExactSynonym: HbS-Beta-Thalassemia Syndrome
hasExactSynonym: HbSBetaThal
hasExactSynonym: S Beta-Thalassemia
hasExactSynonym: S-Beta Thalassemia
hasExactSynonym: Sickle Beta Thalassaemia
hasExactSynonym: Sickle Beta-Thalassaemia
hasExactSynonym: Sickle Cell Beta Thalassemia Disease
hasExactSynonym: Sickle Cell Disease-S Beta Thalassaemia
hasExactSynonym: Sickle Cell-Beta Thalassaemia
hasExactSynonym: Sickle Cell-Beta-Thalassemia
hasExactSynonym: Sickle Cell-Beta-Thalassemia Disease Syndrome

Glomerular Hypertrophy
type: Class
subclass of: Abnormality of the Kidney
definition: A morphologic finding indicating enlargement of the glomeruli in a kidney specimen.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Sufficient
previous identifier: SCDO:0002784
database cross reference: NCIT:C96239

Meningococcal Conjugate Vaccine MCV4
type: Class
subclass of: VO_0000001
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A conjugate vaccine of meningococcal polysaccharide used for active immunization against invasive meningococcal disease caused by Neisseria meningiditis serogroups A, C, Y, and W-135.
existence in other ontologies: Sufficient
previous identifier: SCDO:0006120
database cross reference: NCIT:C96391
hasExactSynonym: MCV4
hasExactSynonym: Menactra
hasExactSynonym: Meningococcal Conjugate Vaccine MCV-4
hasExactSynonym: Meningococcal Polysaccharide (Serogroups A, C, Y and W-135) Diphtheria Toxoid Conjugated Vaccine
hasExactSynonym: Menveo

Pneumococcal 10-Valent Conjugate Vaccine
type: Class
subclass of: Conjugate Pneumococcal Vaccine
definition: An active immunizing vaccine used to prevent infection by the bacterium Streptococcus pneumoniae. It is indicated for disease caused by serotypes 1, 5, 4, 6B, 7, 9V, 14, 18C, 19F, and 23F.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000909
database cross reference: NCIT:C97120
hasExactSynonym: PCV 10

Pneumococcal 13-Valent Conjugate Vaccine
type: Class
subclass of: Conjugate Pneumococcal Vaccine
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: A pneumococcal conjugate vaccine containing 13 different strains of the bacterium Streptococcus pneumoniae, used in children and studied in immunocompromised patients for the prevention of pneumococcal disease. The pneumococcal 13-valent conjugate vaccine contains capsular antigen polysaccharides derived from the S. pneumoniae serotypes 1, 3, 4, 5, 6A, 6B, 7F, 9V, 14, 18C, 19A, 19F and 23F that are individually conjugated to a nontoxic diphtheria cross-reactive material (CRM) carrier protein (CRM197). Upon vaccination, pneumococcal 13-valent conjugate vaccine induces active immunization against 13 different serotypes of S. pneumoniae and protects against pneumococcal disease.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000910
database cross reference: NCIT:C97121
hasExactSynonym: PCV 13
hasExactSynonym: PCV13 Vaccine
hasExactSynonym: Prevnar 13

Conjugate Pneumococcal Vaccine
type: Class
subclass of: VO_0000675
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: An active immunizing vaccine used to prevent infection by the bacterium Streptococcus pneumoniae. It consists of a solution of saccharides of the capsular antigens of Streptococcus serotypes individually conjugated to proteins.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000275
database cross reference: NCIT:C97123
hasExactSynonym: Pneumococcal Conjugate Vaccine

Acquired Methemoglobinemia
type: Class
subclass of: Methemoglobinemia
definition: Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene) and nitrate-rich foods.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000013
database cross reference: NCIT:C98805

Sickle Cell Disease-S Beta Zero Thalassemia
type: Class
subclass of: Sickle Beta Thalassemia
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Genetic Testing
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Smear
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Hemoglobin Profile Assay
subclass of: Restriction
  on property: treated with
  some values from: Blood Transfusion
subclass of: Restriction
  on property: treated with
  some values from: Hematopoietic Stem Cell Transplantation
subclass of: Restriction
  on property: has mode of inheritance
  some values from: SCDO_1000243
subclass of: Restriction
  on property: has causal genotype
  some values from: Hemoglobin Genotype S/Beta Zero Thalassaemia
subclass of: Restriction
  on property: has manifestation
  some values from: Severe Anemia
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: SCDO_1000241
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
definition: A form of sickle cell thalassemia characterized by the absence of hemoglobin A. Patients usually have severe anemia identical to that seen in sickle cell disease.
curator note: Requires further refinement.
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Sufficient
previous identifier: SCDO:0001058
database cross reference: NCIT:C98835
hasExactSynonym: Hb S Beta 0 Thalassemia
hasExactSynonym: Hemoglobin S Beta 0 Thalassemia
hasExactSynonym: S Beta 0 Thalassemia
hasExactSynonym: S beta-zero
hasExactSynonym: Sickle Beta 0 Thalassemia
hasExactSynonym: Sickle Beta Zero Thalassemia
hasExactSynonym: Sickle Cell-Beta 0 Thalassemia
hasExactSynonym: Sickle Cell-Beta Zero Thalassemia

Renal Vein Thrombosis
type: Class
subclass of: Abnormality of the Kidney
subclass of: Abnormal Thrombosis
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
definition: The formation of a thrombus in the renal vein.
existence in other ontologies: Sufficient
previous identifier: SCDO:0005061
database cross reference: NCIT:C99042

Spinal Cord Infarction
type: Class
subclass of: Abnormal Nervous System Morphology
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Ischemic necrosis of the spinal cord caused by occlusion of the arteries that supply blood to the spinal cord. Signs and symptoms include intermittent back pain, pain in the legs, paralysis, and incontinence.
curator note: Can be treated with exchange transfusion (SCDO:0001303)
existence in other ontologies: Sufficient
previous identifier: SCDO:0005226
database cross reference: NCIT:C99063

Imaging Assay
type: Class
subclass of: Diagnostic Technique, Method, Test or Assay
definition: An assay that produces a picture of an entity.
curator note: Perhaps replace this term with "Diagnostic Imaging" from NCIT?
existence in other ontologies: Sufficient
previous identifier: SCDO:0000612
database cross reference: OBI:0000185

DNA Sequencing
type: Class
subclass of: Genetic Technique
definition: A sequencing process which uses deoxyribonucleic acid as input and results in a the creation of DNA sequence information artifact using a DNA sequencer instrument.
curator note: Add sub-class "beta-globin gene sequencing" as per the "Diagnostic Methods" section of the term "Dominant beta-thalassemia" in Orphanet.
existence in other ontologies: Sufficient
previous identifier: SCDO:0004249
database cross reference: OBI:0000626

Infectious Agent
type: Class
subclass of: Environmental Disease Modifier
definition: A material entity bearing the disposition to infect an organism
definition source: http://www.ontobee.org/ontology/OBI
existence in other ontologies: Sufficient
previous identifier: SCDO:0000638
database cross reference: OBI:0000925

Electron Microscope
type: Class
subclass of: Microscope
definition: A microscope that produces an image of an object by targeting it with an electron beam.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000422
database cross reference: OBI:0000990
comment: It is capable of much higher magnifications and has a greater resolving power than a light microscope, allowing it to see much smaller objects in finer detail.

Ultrasound Machine
type: Class
subclass of: Diagnostic Device
subclass of: Restriction
  on property: used by diagnostic tool
  some values from: Ultrasound Test
definition: A device that is used to visualize subcutaneous body structures including tendons, muscles, joints, vessels and internal organs.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001202
database cross reference: OBI:0001098

X-Ray Machine
type: Class
subclass of: Diagnostic Device
subclass of: Restriction
  on property: used by diagnostic tool
  some values from: Chest X-Ray
subclass of: Restriction
  on property: used by diagnostic tool
  some values from: Radiography
definition: A device that is used to generate X-rays.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001251
database cross reference: OBI:0001138
hasExactSynonym: Radiographic Unit

Temperature Measurement Assay
type: Class
subclass of: Physiological Assay
definition: An assay to determine the temperature of an evaluant.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000752
database cross reference: OBI:0002140

HIV Antibody Test
type: Class
subclass of: HIV Test
definition: An antigen specific antibodies assay that is meant to detect antibodies that bind to human immunodeficiency virus (HIV) antigens.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000195
dc:source: hiv-testing
database cross reference: OBI:0002146
hasExactSynonym: HIV Antibody Assay
comment: The window period for antibody tests in most people is somewhere between 3 to 12 weeks from the time of infection.

Minimum Age Value Specification
type: Class
subclass of: SCDO_1000401
definition: A value specifcation that specifies the youngest age when specifying an age range.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000405
database cross reference: OBI:0002556

Maximum Age Value Specification
type: Class
subclass of: SCDO_1000401
definition: A value specifcation that specifies the oldest age when specifying an age range.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000404
database cross reference: OBI:0002557

Tandem Mass Spectrometry
type: Class
subclass of: Chemical Assay
definition: A data transformation that uses two or more analyzers separated by a region in which ions can be induced to fragment by transfer of energy (frequently by collision with other molecules).
existence in other ontologies: Sufficient
previous identifier: SCDO:0001138
database cross reference: OBI:0200198
hasExactSynonym: MS/MS
hasExactSynonym: Tandem MS
comment: Example of usage: A precursor ion is selected in the first stage, allowed to fragment and then all resultant masses are scanned in the second mass analyzer and detected in the detector that is positioned after the second mass analyzer. This experiment is commonly performed to identify transitions used for quantification by tandem MS.

Spectrophotometer
type: Class
subclass of: Diagnostic Device
definition: A spectrophotometer is an instrument that measures the intensity of light as a function of the color, or more specifically, the wavelength of light, transmitted by a substance.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001096
database cross reference: OBI:0400115

Microscope
type: Class
subclass of: Diagnostic Device
definition: A microscope is an instrument which magnifies the view on objects (too small to be viewed by the naked eye) under increased resolution. A microscope can be an optical instrument but also and electronic instrument. There are various kind of optical microscopes, e.g confocal microscope, epifluoresence microscope).
existence in other ontologies: Sufficient
previous identifier: SCDO:0000757
database cross reference: OBI:0400169

Cancer
type: Class
subclass of: Comorbid Disease
subclass of: Restriction
  on property: treated with
  some values from: X-Ray Therapy
subclass of: Restriction
  on property: treated with
  some values from: Surgery
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: A disease characterized by abnormal and uncontrolled cell division.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000180
database cross reference: OBI:1110053
hasExactSynonym: Malignancy
hasExactSynonym: Malignant Neoplasia
hasExactSynonym: Malignant Neoplasm
hasExactSynonym: Malignant Tumor
hasExactSynonym: Malignant Tumour

Phenotype
type: Class
subclass of: SCDO
definition: A (combination of) quality(ies) of an organism determined by the interaction of its genetic make-up and environment that differentiates specific instances of a species from other instances of the same species.
curator note: Sub-classes to be added?: -- increased lactate dehydrogenase level (in Ontology of Adverse Events AOE) -- decreased lactate dehydrogenase level (Mammalian Phenotype Ontology) -- Splenomegaly (link this to Spleen Examination) -- Obstructive Hydrocephalus (see "Cerebellar Hemorrhage") -- Failure to Thrive (MeSH) -- Cardiac Output, Low (MeSH) -- Cardiac Output, High (MeSH) -- Add the sub-class "Clinical Phenotype" from Ontology for General Medical Science
definition source: http://bioportal.bioontology.org/ontologies/OGMS
existence in other ontologies: Sufficient
previous identifier: SCDO:0000893
database cross reference: OGMS:0000023

Disease Phenotype
type: Class
subclass of: Phenotype
definition: A clinically abnormal phenotype that is characteristic of a single disease.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000185
database cross reference: OGMS:0000028

Epigenetic Disorder
type: Class
subclass of: Genetic Disease Modifier
definition: A disorder whose etiology involves (1) a modification to the patient's genomic DNA which leads to alterations in the normal expression pattern of the genome, but is (2) not a change in the nucleotide sequence.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000439
database cross reference: OGMS:0000046
hasExactSynonym: Epigenomic Disorder

Genetic Disorder
type: Class
subclass of: Disease
subclass of: Genetic Disease Modifier
definition: A disorder whose etiology involves an abnormality in the nucleotide sequence of an organism's genome.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000445
database cross reference: OGMS:0000047

Constitutional Genetic Disorder
type: Class
subclass of: Genetic Disorder
definition: A genetic disorder inherited during conception that is part of all cells in the organism.
curator note: Perhaps remove this class but keep sub-classes? Or include the class "Acquired Genetic Disorder" as a sibling of this class if terms are included that can be sub-classes of it?
existence in other ontologies: Sufficient
previous identifier: SCDO:0000279
database cross reference: OGMS:0000051

Patient Symptom Report
type: Class
subclass of: Medical Records
definition: A communication from a patient about something they perceive as being abnormal about their body or life.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000872
database cross reference: OGMS:0000088

Yes
type: Class
subclass of: Clinical or Research Assessment Answer
definition: An answer to question where the answer is Yes.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000563
database cross reference: OPMI:0000023
hasExactSynonym: yes answer to question

No
type: Class
subclass of: Clinical or Research Assessment Answer
definition: An answer to question where the answer is No.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000564
database cross reference: OPMI:0000024
hasExactSynonym: no answer to question

Do Not Know
type: Class
subclass of: Clinical or Research Assessment Answer
definition: An answer to question that indicates the response to the specified question is unknown.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000562
database cross reference: OPMI:0000025
hasExactSynonym: Don't know
hasExactSynonym: unknown answer to question

Refused
type: Class
subclass of: Clinical or Research Assessment Answer
definition: An answer to question where one declines to answer the specified question.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000561
database cross reference: OPMI:0000027
hasExactSynonym: Refuse to answer
hasExactSynonym: Refused to answer
hasExactSynonym: declined to answer question
hasExactSynonym: declined to answer to question

Other
type: Class
subclass of: Clinical or Research Assessment Answer
definition: An answer to question that is not enumerated in the list and then may be entered with free text in a separate text box
existence in other ontologies: Sufficient
previous identifier: SCDO:1000565
database cross reference: OPMI:0000028
hasExactSynonym: other answer to question

L-Selectin
type: Class
subclass of: Gene Product
definition: A protein that is a translation product of the human SELL gene or a 1:1 ortholog thereof. It is a leukocyte adhesion receptor that play an important role in regulating the inflammatory response by mediating leukocyte tethering and rolling on adherent leukocytes.
existence in other ontologies: Sufficient
previous identifier: SCDO:1000443
dc:source: PMC6543649
database cross reference: PR:000001318
hasExactSynonym: CD62 Antigen-Like Family Member L
hasExactSynonym: CD62L
hasExactSynonym: Lymph Node Homing Receptor
comment: L-selection is a serum marker for neutrophil activation.

MicroRNA
type: Class
subclass of: Gene Product
definition: Single-stranded RNA molecules thought to regulate the expression of other genes. miRNAs are encoded by genes that are transcribed from DNA but not translated into protein (non-coding RNA).
definition source: http://bioportal.bioontology.org/ontologies/SBO
existence in other ontologies: Sufficient
previous identifier: SCDO:0000756
database cross reference: SBO:0000316
hasExactSynonym: miRNA

Ability to Carry Out Activities of Daily Living
type: Class
subclass of: Physical Functioning
definition: The performance of the basic activities of self care, such as dressing, ambulation, or eating.
definition source: http://purl.bioontology.org/ontology/MESH/D000203
existence in other ontologies: Sufficient
previous identifier: SCDO:0000006
database cross reference: MESH:D000203
hasExactSynonym: ADL
hasExactSynonym: Daily Living Activities
hasExactSynonym: Daily Living Activity
hasExactSynonym: Self Care (Rehabilitation)
hasExactSynonym: Self-Care

Abnormal Hemoglobin in SCD
type: Class
subclass of: Abnormal Erythrocyte Morphology
subclass of: SCD Molecular Phenotype
definition: A structurally abnormal hemoglobin that occurs in one or more forms of Sickle Cell Disease (SCD).
curator note: Probably too specific to SCD be included in other ontologies.
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Structurally Abnormal Hemoglobin Present in SCD

deprecated Abnormality of Erythrocytes
type: Class
subclass of: deprecated terms
definition: Abnormality in structure and function of the Red Blood Cell.
curator note: Are there other relevant erythrocyte abnormalities that can be included as children here? If not, this class can be removed and just keep "Abnormal Hemoglobin".
definition source: Abnormal Erythrocyte Morphology
existence in other ontologies: Sufficient
hasExactSynonym: Abnormality of Red Blood Cell
hasExactSynonym: Abnormality of Red Blood Cells
deprecated: true

Acetaminophen
type: Class
subclass of: Antipyretic
subclass of: Non Opioid
subclass of: Restriction
  on property: treats
  some values from: Sickle Cell Disease-S Beta Minus Thalassemia
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Analgesic antipyretic derivative of acetanilide. It has weak anti-inflammatory properties and is used as a common analgesic, but may cause liver, blood cell, and kidney damage.
definition source: D000082
existence in other ontologies: Sufficient
previous identifier: SCDO:0000010
database cross reference: MESH:D000082
hasExactSynonym: Paracetamol
hasExactSynonym: Tylenol

Acute Complications of Sickle Cell Disease
type: Class
subclass of: Complication
subclass of: Phenotype of Sickle Cell Disease
definition: A condition that co-exists or follows from sickle cell disease and that has a severe and rapid onset of symptoms with short duration.
curator note: Probably too specific to warrant inclusion into anther ontology.
existence in other ontologies: None
creator: SCDO
dc:source: http://bioportal.bioontology.org/ontologies/NCIT
dc:source: http://purl.bioontology.org/ontology/MESH/Q000150
hasExactSynonym: Acute Complications of SCD

Acute Non-Specific Wheezing Episode
type: Class
subclass of: Abnormality of the Respiratory System
subclass of: Acute Phenotype
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Personal Medical History
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Physical Examination
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Pulmonary Function Test
definition: An acute onset of wheezing in a person with SCD who has no co-morbid asthma.
curator note: Check and show which source was used for the description and whether the description was adapted from the source. -- Provide source for additional info.
definition source: Cohen et al 2011 Am J Hematol., Glassberg et al 2014 Curr Opin Pediatr., Knight-Madden et al 2014 Ped Resp Rev
is caused by: Etiology may be unclear. May be related to inflammation of SCD and/or viral lower respiratory tract infection.
is characterised by: Normal Chest X-ray
existence in other ontologies: None
dc:source: Cohen et al 2011 Am J Hematol., Glassberg et al 2014 Curr Opin Pediatr., Knight-Madden et al 2014 Ped Resp Rev
comment: Too specific to SCD to be included in other ontologies? PFTs may be done to asses for airway hyper-responsiveness.

Acute Sickle Cell Pain Management
type: Class
subclass of: Sickle Cell Pain Management
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Sickle cell pain management that aims to heal the acute process.
curator note: Request inclusion into MESH below "Pain Management" / "Sickle Cell Pain Management" (also to be suggested for inclusion)
definition source: Evidence-Based Management of Sickle Cell Disease
existence in other ontologies: None
creator: SCDO
hasExactSynonym: Acute Sickle Cell Pain Treatment

Acute Upper Respiratory Tract Infection
type: Class
subclass of: Infection
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Personal Medical History
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Chest X-Ray
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Physical Examination
subclass of: Restriction
  on property: treated with
  some values from: Symptomatic Therapeutics
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: An acute respiratory illness with no lower respiratory tract signs or infiiltrate on chest radiograph.
curator note: Request inclusion into relevant ontology
existence in other ontologies: Few but definitions not freely available
creator: SCDO
hasExactSynonym: Acute Upper Respiratory Infection
hasExactSynonym: URI
hasExactSynonym: URTI

deprecated-Adherence
type: Class
subclass of: deprecated terms
definition: The extent to which a person's behaviour - taking medications, following a diet and/or executing life style changes, corresponds to agreed recommendations by a health care provider.
term replaced by: Patient Compliance
curator note: Suggest update to description for "Patient Compliance" in MESH.
definition source: adherence full report.pdf
existence in other ontologies: Suggest update to description
dc:source: D010349
database cross reference: MESH:D010349
hasExactSynonym: Adherence to Long Term Therapy
hasExactSynonym: Patient Adherence
hasExactSynonym: Patient Compliance
hasExactSynonym: Patient Cooperation
deprecated: true

Adult Migraine Questionnaire
type: Class
subclass of: Migraine Questionnaire
definition: A 20-item questionnaire that assesses the frequency of severe headaches, the level of pain, whether the person is taking medications, and associated complications such as nausea.
curator note: Suggest update to label in PhenX (from "Migraine - Adult") as we have done.
definition source: https://www.phenxtoolkit.org/protocols/view/130501
has protocol: PhenX protocol: Migraine - Adult #130501
existence in other ontologies: Suggest update to label
database cross reference: phenX:130501

Adverse Drug Event
type: Class
subclass of: Adverse Event (AE)
definition: An adverse event that occurs after a drug administration.
curator note: Should this be a sub-class of "Environmental Disease Modifier"?
definition source: http://purl.obolibrary.org/obo/OAE_0000005
existence in other ontologies: Sufficient
previous identifier: SCDO:0000028
database cross reference: OAE:0000005
hasExactSynonym: ADE
hasExactSynonym: ADR
hasExactSynonym: Adverse Drug Reaction
hasExactSynonym: Drug Adverse Event

Agarose Gel Electrophoresis
type: Class
subclass of: Electrophoresis
definition: Electrophoresis in which agar or agarose gel is used as the diffusion medium.
definition source: http://purl.bioontology.org/ontology/MESH/D004587
existence in other ontologies: Sufficient
previous identifier: SCDO:0000029
database cross reference: MESH:D004587
hasExactSynonym: Agar Gel Electrophoresis

Agenesis of Corpus Callosum
type: Class
subclass of: Abnormality of the Cerebrum
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Magnetic Resonance Imaging
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Ultrasound Test
subclass of: Restriction
  on property: treated with
  some values from: Genetic Counseling
subclass of: Restriction
  on property: treated with
  some values from: Physiotherapy
subclass of: Restriction
  on property: treated with
  some values from: Supportive Therapeutics
subclass of: Restriction
  on property: treated with
  some values from: Symptomatic Therapeutics
definition: A rare congenital disorder characterized by a partial or complete absence (agenesis) of an area of the brain that connects the two cerebral hemispheres. It can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.
curator note: Suggest update to description in HPO. Include links to relevant Therapeutics.
definition source: HP_0001274
definition source: http://rarediseases.org/rare-diseases/agenesis-of-corpus-callosum/
existence in other ontologies: Suggest update to description
hasExactSynonym: ACC
hasExactSynonym: Absence of Corpus Callosum
hasExactSynonym: Absent Corpus Callosum
hasExactSynonym: Agenesis of the Corpus Callosum
hasExactSynonym: Callosal Agenesis
hasExactSynonym: Corpus Callosum Agenesis
hasExactSynonym: Dysplastic or Absent Corpus Callosum

Alanine Aminotransferase Blood Test
type: Class
subclass of: Liver Function Test
subclass of: Blood Test
subclass of: Restriction
  on property: measures
  some values from: Alanine Aminotransferase Level
definition: A quantitative measurement of alanine aminotransferase present in a blood sample.
curator note: Suggest update to description in NCIT (from "Alanine Aminotransferase Measurement")
definition source: details
existence in other ontologies: Suggest update to description
dc:source: 003473.htm
database cross reference: NCIT:C64433
hasExactSynonym: ALT Blood Test
hasExactSynonym: Alanine Transaminase Blood Test
hasExactSynonym: Circulating Alanine Transaminase Test
hasExactSynonym: SGPT Test
hasExactSynonym: Serum Glutamic-Pyruvic Transaminase Test

Alanine Aminotransferase Level
type: Class
subclass of: Blood Chemistry Measurement
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Alanine Aminotransferase Blood Test
subclass of: Restriction
  on property: has possible finding
  some values from: Elevated Serum Alanine Aminotransferase
subclass of: Restriction
  on property: has possible finding
  some values from: SCDO_1000830
definition: The amount of alanine aminotransferase present in a specified volume of blood.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: ALT Level
hasExactSynonym: Alanine Aminotransferase Level
hasExactSynonym: Alanine Transaminase Level
hasExactSynonym: Blood Alanine Transaminase Level
hasExactSynonym: Circulating Alanine Transaminase Level
hasExactSynonym: SGPT Level
hasExactSynonym: Serum Glutamic-Pyruvic Transaminase Level

Albuminuria
type: Class
subclass of: Proteinuria
subclass of: Restriction
  on property: treated with
  some values from: Angiotensin-Converting Enzyme Inhibitors
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urine Albumin Concentration
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urine Albumin Excretion Rate
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urine Albumin-Creatinine Ratio
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Increased concentration of albumin in the urine; more than 30mg in 24hours or urine albumin creatinine ratio (ACR) >3 mg/mmol.
curator note: Suggest update to description in HPO.
definition source: HP_0012592
definition source: http://www.nice.org.uk/guidance/CG182/chapter/introduction
existence in other ontologies: Suggest update to description in HPO.
dc:source: https://www.phenxtoolkit.org/protocols/view/141501
database cross reference: HP:0012592
comment: Because albuminuria may be affected by non-pathological factors (exercise, menstruation contamination, biological variability, etc.), abnormal values should be confirmed within 1-2 months.

Alcohol - Lifetime Use
type: Class
subclass of: Alcohol Use History
subclass of: SCDO_1000318
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: SCDO_1000329
definition: An indication of whether the respondent has ever consumed any alcoholic beverage during his or her entire life.
curator note: Request inclusion into relevant ontology
existence in other ontologies: Not relevant to context of sickle cell
creator: SCDO (Jade Hotchkiss)

Alpha Thalassemia
type: Class
subclass of: Thalassemia
subclass of: Constitutional Genetic Disorder
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Recessive
subclass of: Restriction
  on property: modified by
  some values from: Imbalanced Hemoglobin Synthesis
subclass of: Restriction
  on property: modifies
  some values from: Clinical Phenotype of Beta Thalassemia
subclass of: Restriction
  on property: modifies
  some values from: Phenotype of Sickle Cell Disease
subclass of: Restriction
  on property: has causal genotype
  some values from: Alpha Thalassemia Genotype
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: Alpha-Globin Locus Deletion
subclass of: Restriction
  on property: has manifestation
  some values from: Anemia
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Reduced Alpha/Gamma Synthesis Ratio
definition: A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted. A hemoglobinopathy with two clinically significant forms: hemoglobin Bart hydrops fetalis (deletion of all 4 alpha-globin genes; --/--) which is severe and often results in neonatal death; and hemoglobin H disease (most commonly caused by deletion of 3 alpha-globin genes; --/-alpha) which results in hemolytic anemia, splenomegaly and bone changes.
curator note: Curation completed by the SCDO curator team: Clair.
definition source: Origa R, Moi P. Alpha-Thalassemia. 2005 Nov 1 [Updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1435/
definition source: http://purl.bioontology.org/ontology/MESH/D017085
existence in other ontologies: Sufficient
previous identifier: SCDO:0000042
database cross reference: MESH:D017085
hasExactSynonym: A-Thalassemia
hasExactSynonym: Alpha-Thalassemia
hasExactSynonym: Thalassemia Alpha

Alpha-Adrenergic Agents
type: Class
subclass of: Antihypertensive Agents
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Drugs that selectively bind to and activate alpha adrenergic receptors.
definition source: http://purl.bioontology.org/ontology/MESH/D000316
existence in other ontologies: Sufficient
previous identifier: SCDO:0000045
database cross reference: MESH:D000316
hasExactSynonym: Adrenergic Alpha Agonists
hasExactSynonym: Adrenergic Alpha-Agonists
hasExactSynonym: Alpha Adrenergic Receptor Agonist

Alpha-Globin Locus
type: Class
subclass of: Globin Locus
definition: A region of chromosome 16 that includes five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 -alpha-1 - theta1 - 3'. It is responsible for the creation of the alpha parts (roughly half) of the oxygen transport protein Hemoglobin.
curator note: Request inclusion into relevant ontology perhaps below "Genetic Locus"/"Globin Locus" (also to be included) in MESH.
definition source: synonyms
definition source: https://www.ncbi.nlm.nih.gov/gene
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Alpha-Globin Gene Cluster

Analgesia
type: Class
subclass of: Symptomatic Therapeutics
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Methods of pain relief that may be used with or in place of analgesics.
definition source: http://purl.bioontology.org/ontology/MESH/D000698
existence in other ontologies: Sufficient
previous identifier: SCDO:0000049
database cross reference: MESH:D000698
hasExactSynonym: Analgesias

Analgesic
type: Class
subclass of: Drug
subclass of: Symptomatic Therapeutics
subclass of: Restriction
  on property: treats
  some values from: Cerebral Hemorrhage
subclass of: Restriction
  on property: treats
  some values from: Arthritis
subclass of: Restriction
  on property: treats
  some values from: Joint Hypermobility
subclass of: Restriction
  on property: treats
  some values from: Bone Pain
subclass of: Restriction
  on property: treats
  some values from: Arthralgia
subclass of: Restriction
  on property: treats
  some values from: Myopathy
subclass of: Restriction
  on property: treats
  some values from: Spondylolisthesis
subclass of: Restriction
  on property: treats
  some values from: Back Pain
subclass of: Restriction
  on property: treats
  some values from: Biconcave Vertebral Bodies
subclass of: Restriction
  on property: treats
  some values from: Osteonecrosis
subclass of: Restriction
  on property: treats
  some values from: Sciatica
subclass of: Restriction
  on property: treats
  some values from: Endometriosis
subclass of: Restriction
  on property: treats
  some values from: Hyperostosis
subclass of: Restriction
  on property: treats
  some values from: SYMP_0019161
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A compound capable of relieving pain without the loss of consciousness.
definition source: http://purl.bioontology.org/ontology/MESH/D000700
existence in other ontologies: Sufficient
previous identifier: SCDO:0000050
database cross reference: MESH:D000700
hasExactSynonym: Analgesic
hasExactSynonym: Analgesic Agent
hasExactSynonym: Analgesic Drugs
hasExactSynonym: Anodynes
hasExactSynonym: Antinociceptive Agent
hasExactSynonym: Pain Killers
hasExactSynonym: Painkiller
hasExactSynonym: Painkillers

Anesthetic Complication AE
type: Class
subclass of: Adverse Drug Event
definition: An adverse drug event that results in unexpected and unwanted events due to anesthetic drug treatment.
definition source: http://purl.obolibrary.org/obo/OAE_0002348
existence in other ontologies: Sufficient
previous identifier: SCDO:0000053
database cross reference: OAE:0002348

Angioid Streaks
type: Class
subclass of: Abnormality of the Eye
subclass of: Ophthalmologic Complication
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: Grayish, brown, or dark red streaks caused by cracks in Bruch's membrane that are histologically characterized by calcium deposition. Angioid streaks are most characteristic of sickle cell anemia and can occur to a lesser extent in other sickle cell syndromes, but not in sickle cell trait.
curator note: Suggest update to description in DO. Currently no description.
definition source: Ballas et al 2010 Am J Hematol
existence in other ontologies: Suggest update to description
database cross reference: DOID:13401

Angiotensin-Converting Enzyme Inhibitors
type: Class
subclass of: Antihypertensive Agents
subclass of: Restriction
  on property: treats
  some values from: Nephropathy
subclass of: Restriction
  on property: treats
  some values from: Tubular Proteinuria
subclass of: Restriction
  on property: treats
  some values from: Albuminuria
subclass of: Restriction
  on property: treats
  some values from: Nephrotic Syndrome
subclass of: Restriction
  on property: treats
  some values from: Nephrotic Range Proteinuria
subclass of: Restriction
  on property: treats
  some values from: Proteinuria
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: A class of drugs whose main indications are the treatment of hypertension and heart failure. They exert their hemodynamic effect mainly by inhibiting the renin-angiotensin system. They also modulate sympathetic nervous system activity and increase prostaglandin synthesis. They cause mainly vasodilation and mild natriuresis without affecting heart rate and contractility.
definition source: http://purl.bioontology.org/ontology/MESH/D000806
existence in other ontologies: Sufficient
previous identifier: SCDO:0000055
database cross reference: MESH:D000806
hasExactSynonym: ACE
hasExactSynonym: ACE Inhibitors
hasExactSynonym: Angiotensin Converting Enzyme
hasExactSynonym: Angiotensin Converting Enzyme Inhibitors

Annual Family Income
type: Class
subclass of: Demographic Factor
subclass of: Socioeconomic Factors
subclass of: Quality of Life Related Personal Attribute
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: has essential measure
  some values from: Household Roster-Relationships
definition: The respondent's total family income from the last calendar year.
curator note: Request inclusion into MESH below "Income". The PhenX protocol is U.S. specific. Is there one relevant to the African setting?
definition source: https://www.phenxtoolkit.org/protocols/view/11101
has protocol: PhenX protocol: Annual Family Income #11101
existence in other ontologies: Negligable
database cross reference: phenX:11100

Anti-Inflammatory Agent
type: Class
subclass of: Non Opioid
subclass of: Restriction
  on property: treats
  some values from: Menorrhagia
subclass of: Restriction
  on property: treats
  some values from: Joint Hypermobility
subclass of: Restriction
  on property: treats
  some values from: Bone Pain
subclass of: Restriction
  on property: treats
  some values from: Systemic Lupus Erythematosus
subclass of: Restriction
  on property: treats
  some values from: Arthralgia
subclass of: Restriction
  on property: treats
  some values from: Myopathy
subclass of: Restriction
  on property: treats
  some values from: Spondylolisthesis
subclass of: Restriction
  on property: treats
  some values from: Back Pain
subclass of: Restriction
  on property: treats
  some values from: Sciatica
subclass of: Restriction
  on property: treats
  some values from: Hyperostosis
subclass of: Restriction
  on property: treats
  some values from: SYMP_0019161
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Substance that reduces or suppresses inflammation.
definition source: http://purl.bioontology.org/ontology/MESH/D000893
existence in other ontologies: Sufficient
previous identifier: SCDO:0000057
database cross reference: MESH:D000893
hasExactSynonym: Anti Inflammatories
hasExactSynonym: Anti Inflammatory Agents
hasExactSynonym: Anti-Inflammatories
hasExactSynonym: Anti-Inflammatory Agents
hasExactSynonym: Anti-Inflammatory Drug
hasExactSynonym: Antiinflammatories
hasExactSynonym: Antiinflammatory Agents

Antihistamine
type: Class
subclass of: Drug
subclass of: Symptomatic Therapeutics
subclass of: Restriction
  on property: treats
  some values from: Skin Rash
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Drugs that bind to but do not activate histamine receptors, thereby blocking the actions of histamine or histamine agonists. Classical antihistaminics block the histamine H1 receptors only.
definition source: http://purl.bioontology.org/ontology/MESH/D006633
existence in other ontologies: Sufficient
previous identifier: SCDO:0000066
database cross reference: MESH:D006633
hasExactSynonym: Antihistamines
hasExactSynonym: Histamine Antagonist
hasExactSynonym: Histamine Antagonists

Antihypertensive Agents
type: Class
subclass of: Drug
subclass of: Supportive Therapeutics
subclass of: Restriction
  on property: treats
  some values from: Migraine
subclass of: Restriction
  on property: treats
  some values from: Intracranial Hemorrhage
subclass of: Restriction
  on property: treats
  some values from: Eclampsia
subclass of: Restriction
  on property: treats
  some values from: Chronic Kidney Disease
definition: Used in the treatment of acute or chronic vascular hypertension regardless of pharmacological mechanism. Among the antihypertensive agents are diuretics; (especially diuretics, thiazide); adrenergic aeta-antagonists; adrenergic alpha-antagonistics; angiotensin-converting enzyme inhibitors; calcium channel blockers; ganglionic blockers; and vasodilator agents.
definition source: http://purl.bioontology.org/ontology/MESH/D000959
existence in other ontologies: Sufficient
previous identifier: SCDO:0000067
database cross reference: MESH:D000959
hasExactSynonym: Agents, Antihypertensive
hasExactSynonym: Anti Hypertensive Agent
hasExactSynonym: Anti-Hypertensives
hasExactSynonym: Antihypertensive Drug
hasExactSynonym: Antihypertensive Drugs
hasExactSynonym: Antihypertensives

APOL1
type: Class
subclass of: Non-Globin Gene
definition: This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Variants in the APOL1 gene can influence susceptibility to end-stage renal disease and Trypanosomiasis (African Sleeping Sickness).
curator note: Exists in other ontologies but we have provided a description more relevant to its relationship with SCD.
definition source: http://www.ncbi.nlm.nih.gov/gene/8542
existence in other ontologies: Not relevant to context of sickle cell
hasExactSynonym: APO-L
hasExactSynonym: APOL
hasExactSynonym: APOL1 Gene
hasExactSynonym: Apolipoprotein L1 Gene

Aquatic Rehabilitation
type: Class
subclass of: Rehabilitation
definition: Exercises performed in or underwater for conditioning or rehabilitation (e.g., in injured athletes or patients with joint diseases).
curator note: Request inclusion into relevant ontology
definition source: http://medical-dictionary.thefreedictionary.com/aquatic+therapy
existence in other ontologies: None
hasExactSynonym: Aqua Therapy
hasExactSynonym: Hydrotherapy

Arterial Blood Gas Test
type: Class
subclass of: Blood Test
subclass of: Restriction
  on property: measures
  some values from: Arterial Oxygen Saturation
definition: A hematology assay that measures the acidity (pH) and the levels of oxygen and carbon dioxide in the blood from an artery. This test is used to check how well the lungs are able to move oxygen into the blood and remove carbon dioxide from the blood.
definition source: ERO_0000533
existence in other ontologies: Sufficient
previous identifier: SCDO:0000071
database cross reference: ERO:0000533
hasExactSynonym: ABG Test

Arteriovenous Malformation
type: Class
subclass of: Abnormal Cardiovascular System Morphology
definition: Abnormal formation of blood vessels that shunt arterial blood directly into veins without passing through the CAPILLARIES. They usually are crooked, dilated, and with thick vessel walls. A common type is the congenital arteriovenous fistula. The lack of blood flow and oxygen in the capillaries can lead to tissue damage in the affected areas.
definition source: http://purl.bioontology.org/ontology/MESH/D001165
existence in other ontologies: Sufficient
previous identifier: SCDO:0000072
database cross reference: MESH:D001165
hasExactSynonym: Arteriovenous Malformations

Artesunate
type: Class
subclass of: Malaria Chemoprophylaxis
subclass of: Supportive Therapeutics
definition: A water-soluble, semi-synthetic derivative of the sesquiterpene lactone artemisinin with anti-malarial, anti-schistosomiasis, antiviral, and potential anti-neoplastic activities.
definition source: http://purl.bioontology.org/ontology/MESH/D000077332
existence in other ontologies: Sufficient
previous identifier: SCDO:0000073
database cross reference: MESH:D000077332
hasExactSynonym: Artesunic Acid
hasExactSynonym: Dihydroartemisinine 12 Alpha Succinate

deprecated ASCQ-Me Score
type: Class
subclass of: deprecated terms
definition: The score obtained from the Adult Sickle Cell Quality-of-Life Measurement Information System (ASCQ-Me).
term replaced by: SCDO_1000296
curator note: Is this term acceptable? If so, request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
dc:source: http://www.phenxtoolkit.org/index.php
hasExactSynonym: ASCQ-Me - Quality of Life in SCD
hasExactSynonym: Sickle Cell Disease Adult Quality of Life Questionnaire Assessment Score
deprecated: true

Aspartate Aminotransferase Blood Test
type: Class
subclass of: Liver Function Test
subclass of: Blood Test
subclass of: Heart Function Test
subclass of: Restriction
  on property: measures
  some values from: Aspartate Aminotransferase Level
definition: A bioassay to measure levels of aspartate aminotransferase (AST), which is released into the blood following tissue damage.
curator note: Suggest update to PhenX label ("Aspartate Aminotransferase Level") also to NCIT label (from "Aspartate Aminotransferase Measurement")
definition source: https://www.phenxtoolkit.org/protocols/view/811201
existence in other ontologies: Suggest update to label
database cross reference: phenX:811201
hasExactSynonym: AST Blood Test
hasExactSynonym: Aspartate Transaminase Blood Test
hasExactSynonym: Serum AST Blood Test

Aspartate Aminotransferase Level
type: Class
subclass of: Blood Chemistry Measurement
subclass of: Restriction
  on property: has essential measure
  some values from: Ethnic Group
subclass of: Restriction
  on property: has essential measure
  some values from: Race
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Aspartate Aminotransferase Blood Test
subclass of: Restriction
  on property: has possible finding
  some values from: Elevated Serum Aspartate Aminotransferase
subclass of: Restriction
  on property: has possible finding
  some values from: SCDO_1000831
definition: The amount of aspartate aminotransferase present in a specified volume of blood.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: AST Level
hasExactSynonym: Aspartate Transaminase Level
hasExactSynonym: Blood Aspartate Transaminase Amount

ASCQ-Me - Quality of Care in SCD
type: Class
subclass of: Quality of Care Measure
definition: A set of 27 questions administered to adults with sickle cell disease (SCD) to determine the quality of care that they have received from health care providers.
curator note: Suggest update to label in PhenX (from "Quality of Care")
definition source: http://www.phenxtoolkit.org/index.php
has protocol: PhenX protocol: Quality of Care - Adults #820101
has respondents: Self
has target population: Clinic Patients (Adults with SCD)
has_application_toward: These questions are used to assess the patient-reported health care needs and quality of service from health care providers for individuals with chronic conditions such as sickle cell disease (SCD).
validated for age ranges: 18 and older
existence in other ontologies: Suggest update to label
creator: SCDO
dc:source: Keller, S. D., Yang, M., Treadwell, M. J., Werner, E. M., & Hassell, K. L. (2014). Patient reports of health outcome for adults living with sickle cell disease: Development and testing of the ASCQ-Me item banks. Health and Quality of Life Outcomes, 12(1), 125. doi:10.1186/s12955-014-0125-0
hasExactSynonym: ASCQ-Me Quality of Care Module

Diagnostic Technique, Method, Test or Assay
type: Class
subclass of: Diagnostic Tool
definition: A planned process with the objective of producing diagnostic information about the material entity that is the evaluant, by physically examining it or its proxies.
curator note: Possibly too specifiic to this ontology to be included in another ontology? Use structuring of sub-classes within MESH's "Diagnostic Techniques and Procedures" and NCIT's "Diagnostic Procedure" to inform structuring of terms in this class.
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
dc:source: http://purl.obolibrary.org/obo/OBI_0000070
hasExactSynonym: Diagnostic Assay
hasExactSynonym: Diagnostic Method
hasExactSynonym: Diagnostic Technique
hasExactSynonym: Diagnostic Test

Assessment of Short-Axis Cardiac Function by MRI
type: Class
subclass of: Magnetic Resonance Imaging
subclass of: Heart Function Test
definition: This measure is a magnetic resonance imaging (MRI) method of capturing an individual's heart performance, and is considered the gold standard for capturing ventricular volumes and mass. It is used to detect cardiac abnormalities, such as cardiomyopathies, myocardial fibrosis, and infarction.
curator note: Request inclusion into relevant ontology. Perhaps in the CPT.
definition source: http://www.phenxtoolkit.org/toolkit_content/supplemental_info/scd_cardio_pulm_renal/measures/Short_Axis_Function_20May2015.doc
existence in other ontologies: None
hasExactSynonym: MRI of Short-Axis Cardiac Function

Asthma
type: Class
subclass of: Abnormality of the Respiratory System
subclass of: Quality of Life Related SCD Symptoms and Complications
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A form of bronchial disorder with three distinct components: airway hyper-responsiveness, airway inflammation, and intermittent airway obstruction. It is characterized by spasmodic contraction of airway smooth muscle, wheezing and dyspnea.
curator note: Further work: is caused by links to be moved to object property links
curator note: Include a copy of this term below "Comorbid Disease" and/or below "Respiratory System".
definition source: http://purl.bioontology.org/ontology/MESH/D001249
is caused by: Airway hyper-responsiveness
is caused by: Airway inflammation
is caused by: Intermittent airway obstruction
is characterised by: It is characterized by spasmodic contraction of airway smooth muscle, wheezing and dyspnea.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000086
database cross reference: MESH:D001249

Atopic Dermatitis
type: Class
subclass of: Skin Inflammation
subclass of: Restriction
  on property: treated with
  some values from: Antibiotic
definition: A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema.
definition source: D003876
existence in other ontologies: Sufficient
previous identifier: SCDO:0000088
database cross reference: MESH:D003876
hasExactSynonym: Atopic Eczema
hasExactSynonym: Baby Eczema
hasExactSynonym: Infantile Eczema

BCL11A
type: Class
subclass of: Non-Globin Gene
subclass of: Restriction
  on property: modifies
  some values from: SCDO_1000707
definition: This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene.
curator note: Link to "Hereditary Persistence of fetal hemoglobin".
curator note: Request inclusion into relevant ontology
definition source: http://www.ncbi.nlm.nih.gov/gene/53335
existence in other ontologies: Not relevant to context of sickle cell
hasExactSynonym: B-Cell CLL/Lymphoma 11A Gene
hasExactSynonym: B-cell CLL/lymphoma 11A (zinc finger protein)
hasExactSynonym: B-cell CLL/lymphoma 11A Gene
hasExactSynonym: BAF Chromatin Remodeling Complex Subunit BCL11A Gene
hasExactSynonym: BCL-11A Gene
hasExactSynonym: BCL11A Gene
hasExactSynonym: Fetal Hemoglobin Quantitative Trait Locus 5
hasExactSynonym: HBFQTL5

Bacteria
type: Class
subclass of: Infectious Agent
definition: One of the three domains of life (the others being Eukarya and ARCHAEA), also called Eubacteria. They are unicellular prokaryotic microorganisms which generally possess rigid cell walls, multiply by cell division, and exhibit three principal forms: round or coccal, rodlike or bacillary, and spiral or spirochetal. Bacteria can be classified by their response to oxygen: aerobic, anaerobic, or facultatively anaerobic; by the mode by which they obtain their energy: chemotrophy (via chemical reaction) or phototrophy (via light reaction); for chemotrophs by their source of chemical energy: chemolithotrophy (from inorganic compounds) or chemoorganotrophy (from organic compounds); and by their source for carbon; nitrogen; etc.; heterotrophy (from organic sources) or autotrophy (from carbon dioxide). They can also be classified by whether or not they stain (based on the structure of their cell walls) with crystal violet dye: gram-negative or gram-positive.
definition source: http://purl.bioontology.org/ontology/MESH/D001419
existence in other ontologies: Sufficient
previous identifier: SCDO:0000098
database cross reference: MESH:D001419

Beck Anxiety Inventory (BAI)
type: Class
subclass of: Quality of Life Measure
subclass of: SCDO_1000297
definition: The BAI is the most widely used instument for measuring anxiety. It consists of 21 items to assess how bothersome a symptom of anxiety has been for the subject over the past month. Scoring the BAI is based on a 0-3 point scale with higher scores indicating severity.
curator note: Request inclusion into relevant ontology. Could be as a child of "Symptom Specific Assessment Tool" in the NCIT.
definition source: Beck, A. T., Epstein, N., Brown, G., & Steer, R. A. (1988). An inventory for measuring clinical anxiety: psychometric properties. Journal of Consulting and Clinical Psychology, 56, 893-897.
has cross-cultural adaptation: Multiple countries and cultural groups
has respondents: Self
has target population: Clinic Patients
has translations: Spanish
validated for age ranges: 17 years and older
freely available: yes
existence in other ontologies: Few but definitions not freely available
hasExactSynonym: BAI
hasExactSynonym: Beck Anxiety Inventory

Behavior Rating Inventory of Executive Function
type: Class
subclass of: Executive Function Measure
definition: The Behavior Rating Inventory of Executive Function (BRIEF) is a detailed questionnaire designed to assess executive function behaviors of children and adolescents in the school and home environments. The BRIEF is completed by parents and teachers.
curator note: Suggest update to label in PhenX.
definition source: https://www.phenxtoolkit.org/protocols/view/131102
has protocol: PhenX protocol: #131102
existence in other ontologies: Suggest update to label
database cross reference: phenX:131102
hasExactSynonym: BRIEF
hasExactSynonym: Executive Function - Child

Behaviour
type: Class
subclass of: Mental Health
definition: The actions or reactions of a person in response to a situation or stimuli.
existence in other ontologies: Few but definitions not specific enough
creator: SCDO

Beliefs About Causes of Illness
type: Class
subclass of: Health Beliefs
definition: Personal or collective understanding of what the causes (could be predisposing factors, enabling factors, precipitating factors, reinforcing factors, and/or risk factors) are of a certain illness.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
dc:source: http://purl.bioontology.org/ontology/MESH/D015984
hasExactSynonym: Beliefs about Causality
comment: Cultural beliefs, such as re-incarnation and witchcraft, may influence notions on causality of sickle cell disease.

Beliefs About Remedies and Treatment
type: Class
subclass of: Health Beliefs
definition: Personal or collective understanding of what can remedy or treat illness.
curator note: Request inclusion into relevant ontology, perhaps MESH.
existence in other ontologies: none
creator: SCDO
dc:source: http://www.ncbi.nlm.nih.gov/mesh/68003469

Beta Minus Thalassemia
type: Class
subclass of: Beta Thalassemia
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Genetic Testing
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Smear
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Hemoglobin Profile Assay
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Recessive
subclass of: Restriction
  on property: has causal genotype
  some values from: Beta-Minus Thalassemia Mutation
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Reduced Hemoglobin A
definition: A beta-thalassemia caused by the reduced (beta-) synthesis of the beta globin chains of the hemoglobin (Hb) tetramer.
curator note: Request inclusion into relevant ontology, perhaps DOID.
definition source: A. Cao and R. Galanello, "Beta Thalassemia", Genetics in Medicine, Vol. 12, No. 2, 2010, pp. 61 76. doi:10.1097/GIM.0b013e3181cd68ed
existence in other ontologies: None
hasExactSynonym: Beta - Thalassemia
hasExactSynonym: Beta Minus-Thalassemia
hasExactSynonym: Beta- Thalassemia
hasExactSynonym: Beta-Minus-Thalassemia

Beta Thalassemia
type: Class
subclass of: Thalassemia
subclass of: Constitutional Genetic Disorder
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Recessive
subclass of: Restriction
  on property: has causal genotype
  some values from: Beta Thalassemia Genotype
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Reduced Beta/Alpha Synthesis Ratio
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: SCDO_1000240
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
definition: A hemoglobinopathy characterized by the reduced (beta plus) or absent (beta zero) synthesis of the beta globin chains of hemoglobin, resulting in variable outcomes ranging from severe anemia to clinically asymptomatic individuals.
curator note: Suggest update to description in DOID. Include a "Dominant Beta-Thalassemia" sub-class? (see Orphanet)
definition source: A. Cao and R. Galanello, "Beta Thalassemia", Genetics in Medicine, Vol. 12, No. 2, 2010, pp. 61 76. doi:10.1097/GIM.0b013e3181cd68ed
definition source: Origa R. Beta-Thalassemia. 2000 Sep 28 [Updated 2018 Jan 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1426/
definition source: http://en.wikipedia.org/wiki/Beta_thalassemia
definition source: http://purl.obolibrary.org/obo/DOID_12241
existence in other ontologies: Suggest update to description
database cross reference: DOID:12241
hasExactSynonym: Beta Thalassemias
hasExactSynonym: Beta Type Thalassemia
hasExactSynonym: Beta-Thalassemia
hasExactSynonym: Beta-Thalassemias
hasExactSynonym: Hemoglobin F Disease
hasExactSynonym: Mediterranean Anemia

Beta Thalassemia Intermedia
type: Class
subclass of: Clinical Phenotype of Beta Thalassemia
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Genetic Testing
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Smear
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Hemoglobin Profile Assay
subclass of: Restriction
  on property: has manifestation
  some values from: Jaundice
subclass of: Restriction
  on property: has manifestation
  some values from: Cholelithiasis
subclass of: Restriction
  on property: has manifestation
  some values from: Cardiomegaly
subclass of: Restriction
  on property: has manifestation
  some values from: Splenomegaly
subclass of: Restriction
  on property: has manifestation
  some values from: Anemia
subclass of: Restriction
  on property: has manifestation
  some values from: Hyperuricemia
subclass of: Restriction
  on property: has manifestation
  some values from: Iron Overload
subclass of: Restriction
  on property: has manifestation
  some values from: Leg Ulcer
subclass of: Restriction
  on property: has manifestation
  some values from: Hypersplenism
definition: A homozygous (B+/B+) or compound heterozygous (B0/B+) form of beta-thalassemia characterized by mild to moderate anemia which does not or only occasionally requires transfusion.
definition source: Orphanet_231222
existence in other ontologies: Sufficient
previous identifier: SCDO:0000112
database cross reference: ORPHA:231222
hasExactSynonym: B+/B+
hasExactSynonym: B0/B+
hasExactSynonym: Beta-Thalassemia Intermedia
hasExactSynonym: Thalassemia Intermedia

Beta Thalassemia Major
type: Class
subclass of: Clinical Phenotype of Beta Thalassemia
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Genetic Testing
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Smear
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Hemoglobin Profile Assay
subclass of: Restriction
  on property: has manifestation
  some values from: Diabetes Mellitus
subclass of: Restriction
  on property: has manifestation
  some values from: Hypothyroidism
subclass of: Restriction
  on property: has manifestation
  some values from: Delayed Puberty
subclass of: Restriction
  on property: has manifestation
  some values from: Osteoporosis
subclass of: Restriction
  on property: has manifestation
  some values from: Cholelithiasis
subclass of: Restriction
  on property: has manifestation
  some values from: Splenomegaly
subclass of: Restriction
  on property: has manifestation
  some values from: Anemia
subclass of: Restriction
  on property: has manifestation
  some values from: Frontal Bossing
subclass of: Restriction
  on property: has manifestation
  some values from: Hypoxemia
subclass of: Restriction
  on property: has manifestation
  some values from: Infection
subclass of: Restriction
  on property: has manifestation
  some values from: Increased Susceptibility to Bacterial Infection
subclass of: Restriction
  on property: has manifestation
  some values from: Bacterial Infection
subclass of: Restriction
  on property: has manifestation
  some values from: Viral Infection
subclass of: Restriction
  on property: has manifestation
  some values from: Iron Overload
subclass of: Restriction
  on property: has manifestation
  some values from: Growth Delay
subclass of: Restriction
  on property: has manifestation
  some values from: Leg Ulcer
subclass of: Restriction
  on property: has manifestation
  some values from: Pulmonary Hypertension
subclass of: Restriction
  on property: has manifestation
  some values from: Chronic Anemia
subclass of: Restriction
  on property: has manifestation
  some values from: Hypersplenism
definition: A severe early-onset form of beta thalassemia characterized by severe anemia requiring regular red blood cell transfusions.
definition source: Orphanet_231214
existence in other ontologies: Sufficient
previous identifier: SCDO:0000113
database cross reference: ORPHA:231214
hasExactSynonym: B0/B0
hasExactSynonym: BT Major
hasExactSynonym: Beta-Thalassemia Major
hasExactSynonym: Cooley Anemia
hasExactSynonym: Cooley's Anemia
hasExactSynonym: Mediterranean Anemia
hasExactSynonym: Thalassemia Major

Beta Thalassemia Trait
type: Class
subclass of: Clinical Phenotype of Beta Thalassemia
subclass of: Thalassemia Trait
subclass of: Restriction
  on property: modifies
  some values from: Hemoglobin H Disease
subclass of: Restriction
  on property: has causal genotype
  some values from: Beta Thalassemia Mutation
definition: The inheritance of only one mutated beta-globin allele (beta+ or beta0).
curator note: Request inclusion into relevant ontology. Perhaps below "clinical subtype" in Orphanet. The exact synonym "B+/B" has been changed to "B-/B", as per the change in convention from "Beta Plus Thalassemia" to "Beta Minus Thalassemia".
definition source: http://en.wikipedia.org/wiki/Beta_thalassemia
existence in other ontologies: Few but definitions not freely available
hasExactSynonym: B-/B
hasExactSynonym: B0/B
hasExactSynonym: Beta Thalassemia Minor
hasExactSynonym: Beta-Thalassemia Trait
hasExactSynonym: Heterozygosity for Beta-Thalassemia
hasExactSynonym: Heterozygous Beta-Thalassemia

Beta Zero Thalassemia
type: Class
subclass of: Beta Thalassemia
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Genetic Testing
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Smear
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Hemoglobin Profile Assay
subclass of: Restriction
  on property: treated with
  some values from: Folic Acid
subclass of: Restriction
  on property: treated with
  some values from: Iron Chelation Therapy
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Recessive
subclass of: Restriction
  on property: has causal genotype
  some values from: Beta-Zero Thalassemia Mutation
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: SCDO_1000241
definition: Beta-zero thalassemia is a form of beta-thalassemia in which beta-globin chain synthesis is absent. The clinical phenotype is often that of transfusion-dependant beta thalassemia major, however modifying factors may ameliorate the symptoms of severe anemia (Cao & Gallanelo, 2010).
curator note: Request inclusion into relevant ontology, perhaps DOID.
definition source: A. Cao and R. Galanello, "Beta Thalassemia", Genetics in Medicine, Vol. 12, No. 2, 2010, pp. 61 76. doi:10.1097/GIM.0b013e3181cd68ed
existence in other ontologies: None
hasExactSynonym: Beta 0 Thalassemia
hasExactSynonym: Beta Zero-Thalassemia
hasExactSynonym: Beta-Zero-Thalassemia
hasExactSynonym: Beta0 Thalassemia
hasExactSynonym: Hb Beta Zero-Thalassemia
hasExactSynonym: Hb F only

Beta-Globin Locus
type: Class
subclass of: Globin Locus
definition: A globin locus composed of five genes located on a short 45 kb region of chromosome 11. The order of genes in this cluster is: 5' - epsilon - gamma-G - gamma-A - delta - beta - 3'. It is responsible for the creation of the beta parts (roughly half) of the oxygen transport protein Hemoglobin.
curator note: Request inclusion into relevant ontology perhaps below "Genetic Locus"/"Globin Locus" (also to be included) in MESH.
definition source: HBD
definition source: Human β-globin locus
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Beta-Globin Cluster
hasExactSynonym: Beta-Globin Gene Cluster
hasExactSynonym: HBB Locus

Beta-Globin Haplotype
type: Class
subclass of: Haplotype
subclass of: Restriction
  on property: modifies
  some values from: Phenotype of Sickle Cell Disease
subclass of: Restriction
  on property: modifies
  some values from: SCDO_1000707
definition: Defined arrays of polymorphic gene sites that are inherited together across the genetic vicinity of the beta-globin gene or gene cluster on chromosome 11.
curator note: Request inclusion into relevant ontology
definition source: Nagel, et. al. NEngl J Med. 1985 Apr 4;312(14):880-4
existence in other ontologies: None
creator: SCDO
hasExactSynonym: Beta-Globin Haplotypes
hasExactSynonym: Beta-Haplotypes
hasExactSynonym: Beta-S Haplotype
hasExactSynonym: Beta-S Haplotypes

Bilirubin Blood Test
type: Class
subclass of: Liver Function Test
subclass of: Blood Test
subclass of: Restriction
  on property: has essential measure
  some values from: Ethnic Group
subclass of: Restriction
  on property: has essential measure
  some values from: Race
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: measures
  some values from: Blood Bilirubin Level
definition: A bioassay to measure levels of bilirubin, a yellow substance found in bile produced when the liver breaks down old red blood cells.
curator note: Suggest update to label in PhenX (from "Bilirubin Level").
definition source: https://www.phenxtoolkit.org/protocols/view/810901
existence in other ontologies: Suggest update to label
database cross reference: phenX:810901

Biochemical Assay
type: Class
subclass of: Chemical Assay
definition: An analytical in vitro procedure used to detect, quantify and/or study the binding or activity of a biological molecule, such as an enzyme.
curator note: Request inclusion into relevant ontology.
definition source: http://www.nature.com/subjects/biochemical-assays
existence in other ontologies: Negligable

Biological Disease Modifier
type: Class
subclass of: Disease Modifier
definition: A biological factor that modifies one or more aspects of a disease, such as sickle cell disease (SCD) (e.g. aspects such as temporal pattern, age of onset and mortality), for specific phenotype(s) of the disease.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Birthplace
type: Class
subclass of: Demographic Factor
definition: The country in which the respondent was born.
curator note: Request inclusion into relevant ontology
definition source: http://www.phenxtoolkit.org/index.php
existence in other ontologies: Negligable
hasExactSynonym: Place of Birth

Birthplace of Biological Father
type: Class
subclass of: Birthplace of Parents
definition: The country in which the respondent's biological father was born.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Birthplace of Biological Mother
type: Class
subclass of: Birthplace of Parents
definition: The country in which the respondent's biological mother was born.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Birthplace of Grandparents
type: Class
subclass of: Demographic Factor
definition: The country or countires in which the respondent's biological grandparents were born.
curator note: Request inclusion into relevant ontology There is a protocol in PhenX but it is US specific.
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)
dc:source: https://www.phenxtoolkit.org/protocols/view/10401

Birthplace of Maternal Grandfather
type: Class
subclass of: Birthplace of Grandparents
definition: The country in which the respondent's biological maternal (on the mother's side of the family) grandfather was born.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Birthplace of Maternal Grandmother
type: Class
subclass of: Birthplace of Grandparents
definition: The country in which the respondent's biological maternal (on the mother's side of the family) grandmother was born.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Birthplace of Parents
type: Class
subclass of: Demographic Factor
definition: The country or countires in which the respondent's biological parents were born.
curator note: Request inclusion into relevant ontology There is a protocol in PhenX but it is US specific.
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)
dc:source: https://www.phenxtoolkit.org/protocols/view/10301

Birthplace of Paternal Grandfather
type: Class
subclass of: Birthplace of Grandparents
definition: The country in which the respondent's biological paternal (on the father's side of the family) grandfather was born.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Birthplace of Paternal Grandmother
type: Class
subclass of: Birthplace of Grandparents
definition: The country in which the respondent's biological paternal (on the father's side of the family) grandmother was born.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Black Sunburst Lesion
type: Class
subclass of: Abnormality of the Eye
subclass of: Ophthalmologic Complication
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Slit-Lamp Examination
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Ophthalmoscopy
definition: Black lesions in the retina that form at the border of perfused and nonperfused retina that are caused by the migration of hyperplastic retinal pigment epithelial cells into sensory retina. The sensory retina surrounding the lesion is atrophic.
curator note: Request inclusion into relevant ontology.
definition source: Ballas et al 2010 Am J Hematol
existence in other ontologies: None

Blood Test
type: Class
subclass of: Physiological Assay
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Test used in the analysis of the hemic system.
definition source: http://purl.bioontology.org/ontology/MESH/D006403
existence in other ontologies: Sufficient
previous identifier: SCDO:0000133
database cross reference: MESH:D006403
hasExactSynonym: Blood Assay
hasExactSynonym: Blood Tests
hasExactSynonym: Hematologic Test
hasExactSynonym: Hematologic Tests
hasExactSynonym: Hematological Test
hasExactSynonym: HematologyTest

Blood Component Transfusion
type: Class
subclass of: Blood Transfusion
definition: The transfer of blood components such as erythrocytes, leukocytes, platelets, and plasma from a donor to a recipient or back to the donor. This process differs from the procedures undertaken in plasmapheresis and types of cytapheresis; (plateletpheresis and leukapheresis) where, following the removal of plasma or the specific cell components, the remainder is transfused back to the donor.
definition source: http://purl.bioontology.org/ontology/MESH/D016913
existence in other ontologies: Sufficient
previous identifier: SCDO:0000138
database cross reference: MESH:D016913

Blood Culture
type: Class
subclass of: Blood Test
definition: Test to determine the presence of blood infection (e.g. sepsis; bacteremia).
definition source: http://purl.bioontology.org/ontology/MESH/D000071997
existence in other ontologies: Sufficient
previous identifier: SCDO:0000139
database cross reference: MESH:D000071997
hasExactSynonym: BC
hasExactSynonym: Culture Blood
hasExactSynonym: Haemoculture
hasExactSynonym: Hemoculture

Blood Transfusion
type: Class
subclass of: Preventative Therapeutics
subclass of: Symptomatic Therapeutics
subclass of: Restriction
  on property: treats
  some values from: Acute Chest Syndrome
subclass of: Restriction
  on property: treats
  some values from: Severe Anemia
subclass of: Restriction
  on property: treats
  some values from: Nephropathy
subclass of: Restriction
  on property: treats
  some values from: Hydrops Fetalis
subclass of: Restriction
  on property: treats
  some values from: Impaired Renal Concentrating Ability
subclass of: Restriction
  on property: treats
  some values from: Sickle Cell Disease-SD
subclass of: Restriction
  on property: treats
  some values from: Sickle Cell Chronic Lung Disease
subclass of: Restriction
  on property: treats
  some values from: Postpartum Hemorrhage
subclass of: Restriction
  on property: treats
  some values from: Hemoglobin H Disease
subclass of: Restriction
  on property: treats
  some values from: Sickle Cell Disease-S Beta Zero Thalassemia
subclass of: Restriction
  on property: treats
  some values from: Hemoglobin C Disease
subclass of: Restriction
  on property: treats
  some values from: Hemoglobin E Disease
subclass of: Restriction
  on property: treats
  some values from: Non-specific Acute Lower Respiratory Tract Episode
subclass of: Restriction
  on property: treats
  some values from: Recurrent Wheeze in Sickle Cell Disease
subclass of: Restriction
  on property: treats
  some values from: Sickle Cell Disease-S/O-Arab
subclass of: Restriction
  on property: treats
  some values from: Moderate Sickle Cell Disease-S Beta Minus Thalassemia
subclass of: Restriction
  on property: treats
  some values from: Severe Sickle Cell Disease-S Beta Minus Thalassemia
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: The introduction of whole blood or blood component directly into the blood stream. (Dorland, 27th ed)
definition source: http://purl.bioontology.org/ontology/MESH/D001803
existence in other ontologies: Sufficient
previous identifier: SCDO:0000147
dc:source: http://www.hindawi.com/journals/ah/2010/272940/
dc:source: Radha Raghupathy, Deepa Manwani, and Jane A. Little, “Iron Overload in Sickle Cell Disease,” Advances in Hematology, vol. 2010, Article ID 272940, 9 pages, 2010. doi:10.1155/2010/272940
database cross reference: MESH:D001803
hasExactSynonym: Blood Transfusions
comment: The major and unavoidable complication of transfusions in sickle cell disease is iron overload. Transfusion is well-defined as prophylaxis (stroke) and as therapy (acute chest syndrome and stroke) for major complications of sickle cell disease and has been instituted, based on less conclusive data, for a range of additional complications, such as priapism, vaso-occlusive crises, leg ulcers, pulmonary hypertension, and during complicated pregnancies.

Body Height
type: Class
subclass of: Whole Body Morphological Measurement
definition: The distance from the sole to the crown of the head with body standing on a flat surface and fully extended.
definition source: http://www.ebi.ac.uk/efo/EFO_0004339
existence in other ontologies: Sufficient
previous identifier: SCDO:0000149
database cross reference: EFO:0004339
hasExactSynonym: Height
hasExactSynonym: Height/Length
hasExactSynonym: Length/Height

Body Weight
type: Class
subclass of: Whole Body Morphological Measurement
definition: The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.
curator note: Add these terms from PhenX?: -- - Weight Loss/Gain
definition source: D001835
existence in other ontologies: Sufficient
previous identifier: SCDO:0000152
database cross reference: MESH:D001835
hasExactSynonym: Weight

deprecated-Bone Sclerosis
type: Class
subclass of: from phenotype
definition: An abnormal hardening or increased density of bone tissue.
term replaced by: SCDO_0000629
definition source: D010026
existence in other ontologies: Sufficient
previous identifier: SCDO:0000155
dc:source: Segen's Medical Dictionary. S.v. "bone sclerosis." Retrieved April 30 2019 from https://medical-dictionary.thefreedictionary.com/bone+sclerosis
database cross reference: MESH:D010026
hasExactSynonym: Bone Scleroses
hasExactSynonym: Osteoscleroses
hasExactSynonym: Osteosclerosis
comment: The bone is more radiopaque than normal on a plain film.
deprecated: true

Brachial Artery Ultrasound Imaging
type: Class
subclass of: Ultrasound Test
subclass of: Endothelial Function Test
definition: A noninvasive method to assess the endothelial dysfunction in the brachial artery.
curator note: Request inclusion into relevant ontology.
definition source: http://en.wikipedia.org/wiki/Endothelial_dysfunction
existence in other ontologies: None
hasExactSynonym: BAUI

Brain Electrical Activity
type: Class
subclass of: Diagnostic Measurement
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Electroencephalography
subclass of: Restriction
  on property: output of diagnostic device
  some values from: Electroencephalograph
definition: Voltages between parts of the brain that are detectable with an electroencephalograph.
definition source: http://bioportal.bioontology.org/ontologies/CRISP
existence in other ontologies: Sufficient
previous identifier: SCDO:0000161
database cross reference: CRISP:0487-1238
hasExactSynonym: Brain Electrophysiological Activity
hasExactSynonym: Brain Oscillography
hasExactSynonym: EEG activity

Breakthrough Pain
type: Class
subclass of: Chronic Sickle Cell Pain
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: An episode of severe pain that occurs with rapid onset even when pain-control medication is being used. Breakthrough pain can occur spontaneously or in relation to a specific activity, and can last from a few seconds to a few hours.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
definition source: Evidence-Based Management of Sickle Cell Disease: Expert Panel Report (EPR), 2014
existence in other ontologies: Few but definitions not specific enough
dc:source: Evidence-Based Management of Sickle Cell Disease: Expert Panel Report (EPR), 2014
database cross reference: NCIT:C9203
comment: There are currently no data that clearly describe or can be used to define breakthrough pain in SCD.

Brief Illness Perception Questionnaire (B-IPQ)
type: Class
subclass of: Quality of Life and Care Measure
definition: The Brief IPQ has 9 items, 8 new items from the IPQ plus a causal question. All of the items except the causal question are rated using a 0-to-10-response scale. Five of the items assess Cognitive Illness Representations: Consequences (Item 1), Timeline (Item 2), Personal Control (Item 3), Treatment Control (Item 4), and Identity (Item 5). Two of the items assess Emotional Representations: Concern (Item 6) and Emotions (Item 8). One item assesses Illness Comprehensibility (Item 7). Assessment of the Causal Representation is by an open-ended response item adapted, which asks patients to list the three most important causal factors in their illness (Item 9). Responses to the causal item can be grouped into categories such as stress, lifestyle, hereditary, etc, determined by the particular illness studied, and categorical analysis can then be performed.
curator note: Request inclusion into NCIT below "Research or Clinical Assessment Tool".
definition source: Broadbent E, Petrie KJ, Main J, Weinman, J. (2006). The brief illness perception questionnaire. Journal of Psychosomatic Research, 60, 631-637.
has cross-cultural adaptation: Multiple countries and cultural groups
has respondents: Self
has target population: Clinic Patients
has translations: Many
selection criteria met: Good psychometric properties, widely used, has been translated into several languages.
validated for age ranges: Adults
freely available: yes
existence in other ontologies: None
dc:source: Broadbent E, Petrie KJ, Main J, Weinman, J. (2006). The brief illness perception questionnaire. Journal of Psychosomatic Research, 60, 631-637.
hasExactSynonym: B-IPQ
hasExactSynonym: Brief Illness Perception Questionnaire

Brief RCOPE
type: Class
subclass of: Quality of Life Measure
definition: Brief RCOPE is a 14-item instrument that measures religious coping with major life stressors. Responses on the Brief RCOPE indicate the frequency with which participants have used R/S coping behaviors on a Likert scale of 1 (not at all) to 4 (a great deal.) The scale has been used to examine positive and negative religious coping, including in teens with SCD.
curator note: Request inclusion into NCIT below "Research or Clinical Assessment Tool".
definition source: Pargament K, Koenig H, Perez L. The many methods of religious coping: development and initial validation of the RCOPE. J Clin Psychol. 2000;56:519-543.
has respondents: Self; Proxy (Parent report)
has target population: Children with SCD and their parents.
selection criteria met: Demonstrated validity in SCD studies.
validated for age ranges: Children and adults
existence in other ontologies: None
creator: SCDO
dc:source: Pargament K, Koenig H, Perez L. The many methods of religious coping: development and initial validation of the RCOPE. J Clin Psychol. 2000;56:519-543.

Bronchodilator Responsiveness
type: Class
subclass of: Respiratory System Measurement
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Bronchodilator Responsiveness Test
definition: The improvement of forced expiratory volume in 1 second (FEV1) after inhalation of beta2-agonists and is typically measured as the change in airflow after the administration of short-acting beta2-adrenergic agonists (SABAs).
curator note: Suggest that the description be updated in PhenX (https://www.phenxtoolkit.org/protocols/view/90301)
definition source: Bauer S, Park HN, Seo HS, et al. Assessment of bronchodilator responsiveness following methacholine-induced bronchoconstriction in children with asthma. Allergy Asthma Immunol Res. 2011;3(4):245-50.
existence in other ontologies: Suggest update to description
hasExactSynonym: BDR

Axiom
annotated source: Bronchodilator Responsiveness
annotated property: hasExactSynonym
annotated target: BDR
synonym_type_property: abbreviation

Bronchodilator Responsiveness Test
type: Class
subclass of: Pulmonary Function Test
subclass of: Restriction
  on property: has essential measure
  some values from: Spirometry
subclass of: Restriction
  on property: measures
  some values from: Bronchodilator Responsiveness
definition: A test to assess an individual's change in pulmonary function in response to inhaled bronchodilator medications.
curator note: Suggest update to label in PhenX (from "Bronchodilator Responsiveness (BDR)") Can also suggest inclusion in MESH below "Respiratory Function Tests"
definition source: https://www.phenxtoolkit.org/protocols/view/90301
has protocol: PhenX protocol: Bronchodilator Responsiveness (BDR) #90301
existence in other ontologies: Suggest update to label
database cross reference: phenX:90301
hasExactSynonym: BDR Test
hasExactSynonym: Bronchodilator Responsiveness Testing

Capillary Electrophoresis
type: Class
subclass of: Electrophoresis
definition: A highly-sensitive (in the picomolar range, which is 10,000-fold more sensitive than conventional electrophoresis) and efficient technique that allows separation of proteins; nucleic acids; and carbohydrates. (Segen, Dictionary of Modern Medicine, 1992)
definition source: http://purl.bioontology.org/ontology/MESH/D019075
existence in other ontologies: Sufficient
previous identifier: SCDO:0000182
database cross reference: MESH:D019075
hasExactSynonym: Capillary Electrophoreses
hasExactSynonym: Capillary Zone Electrophoreses
hasExactSynonym: Capillary Zone Electrophoresis

Cardioscope
type: Class
subclass of: Diagnostic Device
subclass of: Restriction
  on property: used by diagnostic tool
  some values from: Electrocardiography
definition: An instrument which, by means of a cathode-ray oscillograph, projects an electrocardiographic record on a luminous screen.
curator note: Request inclusion into relevant ontology.
definition source: http://encyclopedia2.thefreedictionary.com/cardioscope
existence in other ontologies: None

deprecated Cardiovascular System
type: Class
subclass of: from phenotype
definition: 'Anatomical system that has as its parts the heart and blood vessels. [Curator team: []]'
term replaced by: SCDO_0002245
definition source: http://purl.obolibrary.org/obo/UBERON_0004535
database cross reference: UBERON:0004535
hasExactSynonym: CV system
deprecated: true

obsolete Case Reports
type: Class
subclass of: obsolete Publication Type
definition: 'Clinical presentations that may be followed by evaluative studies that eventually lead to a diagnosis. [Curator team: []]'
definition source: http://purl.bioontology.org/ontology/MESH/D002363
database cross reference: MESH:D002363
hasExactSynonym: Case Histories
hasExactSynonym: Case Studies
hasExactSynonym: Case Study
deprecated: true

Case-Control Studies
type: Class
subclass of: Epidemiologic Studies
definition: Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
curator note: Suggest update to description in MESH
definition source: http://purl.bioontology.org/ontology/MESH/D016022
existence in other ontologies: Suggest update to description
database cross reference: MESH:D016022
hasExactSynonym: Case-Referrent Studies

Catheter
type: Class
subclass of: Diagnostic Device
subclass of: Therapeutic Device
subclass of: Restriction
  on property: used by diagnostic tool
  some values from: Right Heart Catheterization
definition: A flexible, tubular device that is used to carry fluids into or from a blood vessel, hollow organ, or body cavity.
curator note: Add info (rdfs:comment) about how catheters are used in different therapeutics. -- -- Link relevant Therapeutics term(s) to this term via "has medical device".
definition source: http://purl.bioontology.org/ontology/MESH/D057785
existence in other ontologies: Sufficient
previous identifier: SCDO:0000190
database cross reference: MESH:D057785
hasExactSynonym: Cannula
hasExactSynonym: Cannulas
hasExactSynonym: Catheters

Causal Adverse Drug Event
type: Class
subclass of: Adverse Drug Event
definition: A drug adverse event that is caused by a drug administration. Here a causal effect is established between the drug administration and the adverse event.
curator note: Suggest definition replaced in OAE. Currenlty it's shown as the definition editor.
definition source: http://purl.obolibrary.org/obo/OAE_0000095
existence in other ontologies: Suggest update to description
database cross reference: OAE:0000095

Causal Adverse Drug Event Due to Drug-Drug Interaction
type: Class
subclass of: Causal Adverse Drug Event
definition: A causal adverse drug event that is induced by a drug-drug interaction.
definition source: http://purl.obolibrary.org/obo/OAE_0000179
existence in other ontologies: Sufficient
previous identifier: SCDO:0000192
database cross reference: OAE:0000179

Causal Adverse Drug Event Due to Food-Drug Interaction
type: Class
subclass of: Causal Adverse Drug Event
definition: A causal adverse drug event that is induced by a food-drug interaction.
definition source: http://purl.obolibrary.org/obo/OAE_0000180
existence in other ontologies: Sufficient
previous identifier: SCDO:0000193
database cross reference: OAE:0000180

Causal Adverse Drug Event Due to Genetic Predisposition
type: Class
subclass of: Causal Adverse Drug Event
definition: A causal adverse drug event that is induced by genetic predisposition.
curator note: Suggest small typo to be fixed in OAE.
definition source: http://purl.obolibrary.org/obo/OAE_0000181
existence in other ontologies: Suggest update to description
database cross reference: OAE:0000181

Causal Adverse Drug Event Due to SNP
type: Class
subclass of: Causal Adverse Drug Event Due to Genetic Predisposition
definition: A causal adverse drug event due to genetic predisposition that is specifically induced by SNP.
definition source: http://purl.obolibrary.org/obo/OAE_0000182
existence in other ontologies: Sufficient
previous identifier: SCDO:0000195
database cross reference: OAE:0000182

Cell Free Hemoglobin Blood Test
type: Class
subclass of: Blood Test
subclass of: Restriction
  on property: measures
  some values from: Cell Free Hemoglobin Level
definition: The determination of the amount of free hemoglobin present in a sample.
curator note: Suggest update to label in NCIT (from "Free Hemoglobin Measurement")
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Suggest update to label
database cross reference: NCIT:C127617
hasExactSynonym: Cell Free Hemoglobin Assay
hasExactSynonym: Cell Free Hemoglobin Blood Assay
hasExactSynonym: Cell Free Hemoglobin Test
hasExactSynonym: Free Hemoglobin Blood Test
hasExactSynonym: HGBFR Test

Cell Free Hemoglobin Level
type: Class
subclass of: Blood Chemistry Measurement
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Cell Free Hemoglobin Blood Test
definition: The level of hemoglobin external to erythrocytes in a biological specimen.
curator note: Request inclusion into relevant ontology If wanting to include "Plasma Hemoglobin Level" in the future, see CMO:0000588 for a description. synonyms: Plasma Free Hemoglobin (PFHb) Level, Plasma Hemoglobin Level.
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Cell Free Haemoglobin Level
hasExactSynonym: Cell Free Hemoglobin Concentration
hasExactSynonym: Extracellular Hb Level
hasExactSynonym: Extracellular Hemoglobin Level
hasExactSynonym: HGBFR Level

Cerebral Collateral Flow
type: Class
subclass of: Cerebrovascular Hemodynamics
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Transcranial Doppler Ultrasonography
definition: Cerebral collateral circulation is a subsidiary vascular network which is dynamically recruited after arterial occlusion and may provide residual blood flow to ischemic areas.
curator note: The description doesn't actually describe the term. Needs revision. Perhaps: Blood flow through cerebral collateral circulation, a subsidiary vascular network which is dynamically recruited after arterial occlusion and which may provide residual blood flow to ischemic areas. Suggest inclusion into CMO, below "circulation measurement".
definition source: Cerebral collateral circulation in experimental ischemic stroke. Elisa Cuccione, Giada Padovano, Alessandro Versace, Carlo Ferrarese, Simone Beretta. Exp Transl Stroke Med. 2016; 8: 2. Published online 2016 Mar 1. doi: 10.1186/s13231-016-0015-0 PMCID: PMC4772465
existence in other ontologies: None
hasExactSynonym: Cerebral Collateral Circulation

Cerebral Function Assay
type: Class
subclass of: Physiological Assay
definition: A test of how well the cerebrum is functioning.
curator note: Request inclusion into relevant ontology.
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Cerebral Function Test

Cerebrovascular Hemodynamics
type: Class
subclass of: Blood Flow Measurement
definition: The movement and the forces involved in the movement of the blood through the blood vessels in the brain.
curator note: Request inclusion into relevant ontology. Perhaps replace with "cerebral blood flow measurement" from the EFO?
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
dc:source: http://bioportal.bioontology.org/ontologies/NCIT
dc:source: D006439

Chemical Assay
type: Class
subclass of: Diagnostic Technique, Method, Test or Assay
definition: The analysis of a sample material, called an analyte, using a set of chemical procedures.
curator note: Request inclusion into relevant ontology.
definition source: http://www.reference.com/science/chemical-assay-80cfe6f498d34be5
existence in other ontologies: None

Chest X-Ray
type: Class
subclass of: Radiography
subclass of: Restriction
  on property: uses diagnostic device
  some values from: X-Ray Machine
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A medical imaging assessment of the chest wall, airways, lungs, pulmonary vessels, heart, mediastinum, and pleura.
definition source: https://www.phenxtoolkit.org/protocols/view/810201
existence in other ontologies: Sufficient
previous identifier: SCDO:0000217
database cross reference: phenX:810201
hasExactSynonym: Chest Radiograph

Child Health Questionnaire (CHQ)
type: Class
subclass of: Quality of Life Measure
definition: The Child Health Questionnaire (CHQ) is a family of general quality of life surveys that measures 14 unique physical and psychosocial concepts. The parent form is available in 2 lengths - the CHQ-PF50 and the CHQ-PF28. The child self-reported version of the CHQ consists of 87 items (CHQ-CF87).
has cross-cultural adaptation: Multiple countries and cultural groups
has respondents: Self, Proxy
has target population: Healthy Children; Children with Medical Conditions
has translations: French, isiXhosa, isiZulu, Portuguese, Punjabi, Sesotho, Temil, Telugu, Gujarati
selection criteria met: Demonstrated validity with SCD populations; at least two publications using the measure in SCD.
validated for age ranges: 5 to 18 years (child report 10 - 18 years; parent report 5 - 18 years)
freely available: yes
existence in other ontologies: Few but definitions not specific enough
creator: SCDO
dc:source: Landgraf, J. M., Abetz, L., and Ware, J. E. (1996). Child health questionnaire (CHQ): A user's manual (1st Ed.). Boston, M.A.: The Health Institute, New England Medical Center.
dc:source: Panepinto JA, O'Mahar KM, DeBaun MR, Rennie KM, Scott JP. Validity of the child health questionnaire for use in children with sickle cell disease. J Pediatr Hematol Oncol. 2004 Sep;26(9):574-8.
dc:source: Wrotniak BH, Schall JI, Brault ME, Balmer DF, Stallings VA. Health-related quality of life in children with sickle cell disease using the child health questionnaire. J Pediatr Health Care. 2014 Jan-Feb;28(1):14-22. doi: 10.1016/j.pedhc.2012.09.004. Epub 2012 Nov 8.
hasExactSynonym: CHQ
hasExactSynonym: Child Health Questionnaire

Child-Reported Parental Education Attainment
type: Class
subclass of: Current Educational Attainment
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: A parent's highest level of education obtained, as reported by the child.
curator note: Request inclusion into MESH below "Current Educational Attainment" (also to be suggested), below "Socioeconomic Factors". Also suggest inclusion in the EFO, below measurement.
definition source: https://www.phenxtoolkit.org/protocols/view/210201
has protocol: PhenX protocol: Child-Reported Parental Education Attainment #210201
existence in other ontologies: Negligable
database cross reference: phenX:210201

Children's Depression Inventory 2 (CDI 2)
type: Class
subclass of: Quality of Life Measure
definition: The CDI-2 is a 27-item self-report scale that helps to assess cognitive, affective and behavioral signs of depression in children and adolescents. Each item is scored on a scale from 0 to 2.
curator note: Check and show which source was used for the description and whether the description was adapted from the source.
curator note: Request inclusion into relevant ontology. Could be as a child of "Symptom Specific Assessment Tool" in the NCIT.
has cross-cultural adaptation: Multiple countries and cultural groups
has respondents: Self
has target population: Clinic Patients
validated for age ranges: 7 to 17 years
freely available: yes
existence in other ontologies: None
dc:source: Kovacs, M. (1985). The Children's Depression, Inventory (CDI). Psychopharmacology Bulletin, 21, 995-998.
hasExactSynonym: CDI 2
hasExactSynonym: CDI-2
hasExactSynonym: Children's Depression Inventory 2
hasExactSynonym: Children's Depression Inventory-2

Children's Health Locus of Control Scale (CHLC)
type: Class
subclass of: Quality of Life and Care Measure
definition: A measure that seeks to determine the extent to which children and adolescents believe their own health-related behaviors will influence their health. It is a 20 item scale that contains 3 additional practice items and is a yes or no format. It contains 3 factors: belief in internality, belief in powerful others and belief in chance. There is a shorter 9-item version of the scale which is comparable to the full version and adapted for use in Egyptian children.
definition source: Abdel Gawwad E, Ahmed MH, Kamal MM. Developing and testing of an Egyptian version of Children's Health Locus of Control scale. J Egypt Public Health Assoc. 1999; 74(1-2):139-73.
definition source: Deaux EB. Health Locus of Control in Chukotka children. Alaska Med. 1992 Jul-Sep; 34(3):135-9.
definition source: Parcel G.S. and Meyer M.P. (1978) Development of an instrument to measure children's health locus of control. Health Education Monographs, 6, 149-159.
has cross-cultural adaptation: Multiple countries and cultural groups
has respondents: Self
has target population: Healthy Children; Children with Medical Conditions
has translations: English, Russian, a 9- item shorter Egyptian version
selection criteria met: Has adequate reliability, construct validity and internal consistency.
validated for age ranges: Children and Adolescents
freely available: no
existence in other ontologies: Few but definitions not specific enough
hasExactSynonym: CHLC
hasExactSynonym: Children's Health Locus of Control Scale

Cholecystectomy
type: Class
subclass of: Supportive Therapeutics
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Surgical removal of the gallbladder.
definition source: http://purl.bioontology.org/ontology/MESH/D002763
existence in other ontologies: Sufficient
previous identifier: SCDO:0000222
database cross reference: MESH:D002763
hasExactSynonym: Cholecystectomies

Chronic Complications of Sickle Cell Disease
type: Class
subclass of: Complication
subclass of: Phenotype of Sickle Cell Disease
definition: A condition that co-exists or follows from sickle cell disease and that has a slow, creeping onset, slow progress and long continuance of disease manifestations.
curator note: Probably too specific to warrant inclusion into anther ontology.
curator note: Used info in "Evidence-Based Management of Sickle Cell Disease, Expert Panel Report, 2014" to link to relevant phenotypes.
existence in other ontologies: None
creator: SCDO
dc:source: http://purl.bioontology.org/ontology/MESH/Q000150
dc:source: http://purl.obolibrary.org/obo/HP_0011010

Chronic Kidney Disease
type: Class
subclass of: Kidney Failure
subclass of: Chronic Phenotype
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Test
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Urinary Albumin Test
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Urinary Creatinine Test
subclass of: Restriction
  on property: treated with
  some values from: Antihypertensive Agents
subclass of: Restriction
  on property: treated with
  some values from: Renal Dialysis
subclass of: Restriction
  on property: treated with
  some values from: Renal Transplant
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Serum Creatinine Level
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Blood Cystatin C Level
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Glomerular Filtration Rate
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urine Albumin Concentration
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urine Albumin Excretion Rate
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urine Albumin-Creatinine Ratio
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Chronic kidney disease (CKD) is defined as either having a glomerular filtration rate (GFR) of <60 mL/min/1.73 mL for >3 months with or without kidney damage or having evidence of kidney damage for 3 months, with or without decreased GFR.
curator note: Suggest update to description in DO (currently no definition).
definition source: NHLBI SCD New guidelines 2014.
has age of onset: When assessed by albuminuria, often presents in second decade of life in sickle cell disease and prevalence increases with age.
has disease stage: CKD is classified using a combination of GFR and ACR categories
is caused by: Sickle cell disease, hypertension, diabetes, polycystic kidney disease, glomerulonephritis, various other causes.
is characterised by: Reduced glomerular filtration, elevated creatinine, anemia, bone disease, uremia.
existence in other ontologies: Few but definitions not specific enough
creator: SCDO
dc:source: classification-of-chronic-kidney-disease-2
dc:source: NHLBI SCD New guidelines 2014.
database cross reference: DOID:784
hasExactSynonym: CKD
hasExactSynonym: Chronic Kidney Injury
hasExactSynonym: Chronic Renal Failure
comment: Evidence of kidney damage includes pathologic abnormalities or markers of kidney damage (i.e., proteinuria) independent of cause. Kidney disease severity is classified into five stages according to the level of GFR and presence of albuminuria.

deprecated-Chronic Kidney Injury
type: Class
subclass of: from phenotype
definition: Is a long-term condition where the kidneys don't work as well as they should.
term replaced by: Chronic Kidney Disease
curator note: There is conflicting positioning of this term in different ontologies. Need an expert to decide descriptions and positioning of this and related terms.
hasExactSynonym: CKD
deprecated: true

Chronic Neuropathic Pain
type: Class
subclass of: Chronic Sickle Cell Pain
subclass of: Restriction
  on property: treated with
  some values from: Amitriptyline
subclass of: Restriction
  on property: treated with
  some values from: Pregabalin
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Chronic pain caused by damage to nerve fibers. It is usually associated with tissue injury. This pain is usually described as burning, numb, tingling, lancinating, shooting, or paroxysmal in nature and is associated with a sensation of pins and needles. Its severity is also enhanced by exposure to either cold or heat.
curator note: Request inclusion into relevant ontology
definition source: EFO_0005762
definition source: Evidence-Based Management of Sickle Cell Disease: Expert Panel Report (EPR), 2014
existence in other ontologies: Few but definitions not freely available

Chronic Pain in a Specific Tissue or Organ
type: Class
subclass of: Chronic Sickle Cell Pain
definition: This pain occurs in a specific tissue or organ and is usually described as constant and deep, nagging, and achy in nature.
curator note: Request inclusion into relevant ontology
definition source: Evidence-Based Management of Sickle Cell Disease: Expert Panel Report (EPR), 2014
existence in other ontologies: None

Chronic Pain often Unclear Etiology
type: Class
subclass of: Chronic Sickle Cell Pain
definition: The only complaint is the patient's self-report of pain that does not go away.
curator note: Request inclusion into relevant ontology
definition source: Evidence-Based Management of Sickle Cell Disease: Expert Panel Report (EPR), 2014
definition source: http://doi.org/10.1182/blood-2012-04-383430
existence in other ontologies: None
dc:source: Evidence-Based Management of Sickle Cell Disease: Expert Panel Report (EPR), 2014
hasExactSynonym: Intractable Chronic Pain Without Obvious Pathology
comment: This type of chronic sickle cell pain may be an extension of recurrent acute painful episodes. Therefore, early and aggressive intervention in treating acute sickle cell pain may reduce the development of chronic pain.

Chronic Restrictive Lung Disease
type: Class
subclass of: Abnormality of the Respiratory System
subclass of: Quality of Life Related SCD Symptoms and Complications
subclass of: Chronic Phenotype
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
definition: Restrictive lung disease is a category of extrapulmonary, pleural, or parenchymal respiratory diseases that restrict lung expansion, resulting in a decreased lung volume, an increased work of breathing, and inadequate ventilation and/or oxygenation. Pulmonary function test demonstrates a decrease in the forced vital capacity.
curator note: The description does not seem complete as it does not address the "chronic" aspect. Request inclusion into relevant ontology Wikipedia was used as the description source. Perhaps rather use NCIT's "Restrictive Lung Disease", and then use wikipedia as source for additional info. Did not find "Chronic Restrictive Lung Disease" in ontologies, but did find "Chronic Obstructive Lung Disease"...perhaps there was confusion between these terms when giving the name?
definition source: HP_0002091
existence in other ontologies: None
hasExactSynonym: Chronic Restrictive Ventilatory Defect
hasExactSynonym: Restrictive Lung Disease

Chronic Sickle Cell Pain
type: Class
subclass of: Chronic Pain
subclass of: SCD Related Pain
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Persistent pain in sickle cell disease. In sickle cell disease, persistent pain (pain that has lasted longer than 3 to 6 months) no longer serves as a warning sign. However, the time distinction is arbitrary and the condition may be difficult to distinguish from frequently recurring acute pain. Chronic pain may occur with objective signs of avascular necrosis, arthropathy, arthritis, leg ulcers or vertebral body collapse, or without objective signs, due to neuroplasticity of the peripheral nervous system.
curator note: Request inclusion into relevant ontology
definition source: Chronic Pain
definition source: SCD Management guidelines - Tanzania
existence in other ontologies: None
creator: SCDO
dc:source: Evidence-Based Management of Sickle Cell Disease: Expert Panel Report (EPR), 2014
hasExactSynonym: SCD-Associated Chronic Pain

Chronic Sickle Cell Pain Management
type: Class
subclass of: Sickle Cell Pain Management
subclass of: Restriction
  on property: modifies
  some values from: Quality of Life in Sickle Cell Disease Measure
definition: Sickle cell pain management that aims to restore function and improve the quality of life.
curator note: Request inclusion into MESH below "Pain Management" / "Sickle Cell Pain Management" (also to be suggested for inclusion)
definition source: Evidence-Based Management of Sickle Cell Disease
existence in other ontologies: None
creator: SCDO
hasExactSynonym: Chronic Sickle Cell Pain Treatment

Cigarette Smoking Status
type: Class
subclass of: Smoking History
subclass of: SCDO_1000318
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: SCDO_1000320
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: SCDO_1000321
definition: An indication of a person's current cigarette use as well as some indication of cigarette smoking history.
curator note: Request inclusion below "smoking status" in Exposure Ontology
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
dc:source: http://bioportal.bioontology.org/ontologies/ROO
hasExactSynonym: Cigarette Smoking Status Measurement

Climate
type: Class
subclass of: Physical Environment
definition: Meteorological conditions, including temperature, precipitation, and wind, that characteristically prevail in a particular region; includes regions of the earth having particular meteorological conditions.
definition source: http://bioportal.bioontology.org/ontologies/CRISP
existence in other ontologies: Sufficient
previous identifier: SCDO:0000236
database cross reference: CRISP:1035-6799

Clinical Coding
type: Class
subclass of: Medical Records
definition: Process of substituting a symbol or code for a term such as a diagnosis or procedure. (from Slee's Health Care Terms, 3d ed.)
curator note: Add specific Sickle Cell Disease related codes as instances/individuals below *Clinical Coding*? (see ICD-10 codes here: www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-)
definition source: http://purl.bioontology.org/ontology/MESH/D059019
existence in other ontologies: Sufficient
previous identifier: SCDO:0000245
database cross reference: MESH:D059019
hasExactSynonym: Coding
hasExactSynonym: Medical Coding

Clinical Competence
type: Class
subclass of: Quality of Health Care
definition: The capability to perform acceptably those duties directly related to patient care.
definition source: http://purl.bioontology.org/ontology/MESH/D002983
existence in other ontologies: Sufficient
previous identifier: SCDO:0000246
database cross reference: MESH:D002983
hasExactSynonym: Clinical Competencies
hasExactSynonym: Clinical Competency
hasExactSynonym: Clinical Skill
hasExactSynonym: Competencies, Clinical
hasExactSynonym: Competency, Clinical
hasExactSynonym: Skill, Clinical
hasExactSynonym: Skills, Clinical

obsolete Clinical Conference
type: Class
subclass of: obsolete Publication Type
definition: 'Work that consists of a conference of physicians on their observations of a patient at the bedside, regarding the physical state, laboratory and other diagnostic findings, clinical manifestations, results of current therapy, etc. A clinical conference usually ends with a confirmation or correction of clinical findings by a pathological diagnosis performed by a pathologist. Clinical conference is often referred to as a clinico-pathological conference. [Curator team: []]'
definition source: http://purl.bioontology.org/ontology/MESH/D016429
database cross reference: MESH:D016429
hasExactSynonym: Clinico-Pathologic Conference
hasExactSynonym: Clinico-Pathological Conference
deprecated: true

obsolete Clinical Diagnostic Questionnaire
type: Class
subclass of: obsolete Questionnaire
definition: 'A quick and accurate way of assessing the patient health states using well defined set of questions and analyzed for an optimal clinical decision for the patient. [Curator team: Gaston K. Mazandu]'
deprecated: true

Clinical Neuropathy Assessment
type: Class
subclass of: Physical Examination
definition: A physician administered examination to assess peripheral neuropathy.
definition source: https://www.phenxtoolkit.org/protocols/view/130201
has protocol: PhenX protocol: Neuropathy - Clinical Assessment #130201
has_application_toward: Can be used to assess the severity of symptoms and disability associated with peripheral neuropathy caused by a number of disorders including tumors, infections, autoimmune diseases, and inherited disorders such as Charcot-Marie-Tooth disease.
existence in other ontologies: Sufficient
previous identifier: SCDO:0000250
dc:source: https://www.phenxtoolkit.org/protocols/view/130201
database cross reference: phenX:130201
hasExactSynonym: Charcot-Marie-Tooth Neuropathy Score
hasExactSynonym: Neuropathy - Clinical Assessment

Clinical Phenotype of Beta Thalassemia
type: Class
subclass of: Beta Thalassemia
subclass of: Restriction
  on property: modified by
  some values from: Increased Hemoglobin F
subclass of: Restriction
  on property: modified by
  some values from: Alpha Thalassemia
subclass of: Restriction
  on property: modified by
  some values from: Hydroxyurea
subclass of: Restriction
  on property: modified by
  some values from: SCDO_1000707
subclass of: Restriction
  on property: has causal genotype
  some values from: Beta Thalassemia Genotype
definition: Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype.
curator note: Could this not rather be "Clinical Subtype of Beta Thalassemia"? See "clinical subtype" in Orphanet.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Clair Ingram)

obsolete Clinical Study
type: Class
subclass of: obsolete Publication Type
definition: 'A work that reports on the results of a research study to evaluate interventions or exposures on biomedical or health-related outcomes. The two main types of clinical studies are interventional studies (clinical trials) and observational studies. While most clinical studies concern humans, this publication type may be used for clinical veterinary articles meeting the requisites for humans. [Curator team: []]'
definition source: http://purl.bioontology.org/ontology/MESH/D000068397
database cross reference: MESH:D000068397
deprecated: true

Clinical Studies as Topic
type: Class
subclass of: Epidemiologic Study Characteristics
definition: Works about research studies that evaluate interventions or exposures on biomedical or health-related outcomes. The two main types of clinical studies are interventional studies (clinical trials) and observational studies.
curator note: Term to be adapted as necessary to match EDDA Study Designs Taxonomy
definition source: http://purl.bioontology.org/ontology/MESH/D000068456
existence in other ontologies: Sufficient
previous identifier: SCDO:0000253
database cross reference: MESH:D000068456

obsolete Clinical Trial
type: Class
subclass of: obsolete Clinical Study
definition: 'A work that reports on the results of a clinical study in which participants are assigned to receive one or more interventions so that researchers can evaluate the interventions on biomedical or health-related outcomes. The assignments are determined by the study protocol. Participants may receive diagnostic, therapeutic, or other types of interventions. While most clinical trials concern humans, this publication type may be used for clinical veterinary articles meeting the requisites for humans. [Curator team: []]'
definition source: http://purl.bioontology.org/ontology/MESH/D016430
database cross reference: MESH:D016430
hasExactSynonym: Intervention Study
deprecated: true

obsolete Clinical Trial, Phase I
type: Class
subclass of: obsolete Clinical Trial
definition: 'Work that is the report of a pre-planned, usually controlled, clinical study of the safety and efficacy of diagnostic, therapeutic, or prophylactic drugs, devices, or techniques based on a small number of healthy persons and conducted over the period of about a year in either the United States or a foreign country. [Curator team: []]'
definition source: http://purl.bioontology.org/ontology/MESH/D017426
database cross reference: MESH:D017426
hasExactSynonym: Clinical Trial, Phase 1
deprecated: true

obsolete Clinical Trial, Phase II
type: Class
subclass of: obsolete Clinical Trial
definition: 'Work that is a report of a pre-planned, usually controlled, clinical study of the safety and efficacy of diagnostic, therapeutic, or prophylactic drugs, devices, or techniques based on several hundred volunteers, including a limited number of patients, and conducted over a period of about two years in either the United States or a foreign country. [Curator team: []]'
definition source: http://purl.bioontology.org/ontology/MESH/D017427
database cross reference: MESH:D017427
hasExactSynonym: Clinical Trial, Phase 2
deprecated: true

obsolete Clinical Trial, Phase IV
type: Class
subclass of: obsolete Clinical Trial
definition: 'Work that is a report of a planned post-marketing study of diagnostic, therapeutic, or prophylactic drugs, devices, or techniques that have been approved for general sale after clinical trials, phases I, II, and III. These studies, conducted in the United States or a foreign country, often garner additional data about the safety and efficacy of a product. [Curator team: []]'
definition source: http://purl.bioontology.org/ontology/MESH/D017429
database cross reference: MESH:D017429
hasExactSynonym: Clinical Trial, Phase 4
deprecated: true

obsolete Clinical Trial, Phase III
type: Class
subclass of: obsolete Clinical Trial
definition: 'Work that is a report of a pre-planned, usually controlled, clinical study of the safety and efficacy of diagnostic, therapeutic, or prophylactic drugs, devices, or techniques after phase II trials. A large enough group of patients is studied and closely monitored by physicians for adverse response to long-term exposure, over a period of about three years in either the United States or a foreign country. [Curator team: []]'
definition source: http://purl.bioontology.org/ontology/MESH/D017428
database cross reference: MESH:D017428
hasExactSynonym: Clinical Trial, Phase 3
deprecated: true

Clinical Trials as Topic
type: Class
subclass of: Clinical Studies as Topic
definition: Works about pre-planned studies of the safety, efficacy, or optimum dosage schedule (if appropriate) of one or more diagnostic, therapeutic, or prophylactic drugs, devices, or techniques selected according to predetermined criteria of eligibility and observed for predefined evidence of favorable and unfavorable effects. This concept includes clinical trials conducted both in the U.S. and in other countries.
definition source: http://purl.bioontology.org/ontology/MESH/D002986
existence in other ontologies: Sufficient
previous identifier: SCDO:0000259
database cross reference: MESH:D002986

Cognitive Therapy
type: Class
subclass of: Behaviour Therapy
subclass of: Restriction
  on property: treats
  some values from: Growth Delay
subclass of: Restriction
  on property: treats
  some values from: SYMP_0019161
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
definition: A direct form of psychotherapy based on the interpretation of situations (cognitive structure of experiences) that determine how an individual feels and behaves. It is based on the premise that cognition, the process of acquiring knowledge and forming beliefs, is a primary determinant of mood and behavior. The therapy uses behavioral and verbal techniques to identify and correct negative thinking that is at the root of the aberrant behavior.
definition source: http://purl.bioontology.org/ontology/MESH/D015928
existence in other ontologies: Sufficient
previous identifier: SCDO:0000262
database cross reference: MESH:D015928
hasExactSynonym: CBT
hasExactSynonym: Cognition Therapies
hasExactSynonym: Cognition Therapy
hasExactSynonym: Cognitive Behavioral Therapies
hasExactSynonym: Cognitive Behavioral Therapy
hasExactSynonym: Cognitive Behaviour Therapy
hasExactSynonym: Cognitive Psychotherapies
hasExactSynonym: Cognitive Psychotherapy
hasExactSynonym: Cognitive Therapies

Cohort Studies
type: Class
subclass of: Epidemiologic Studies
definition: Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.
definition source: http://purl.bioontology.org/ontology/MESH/D015331
existence in other ontologies: Sufficient
previous identifier: SCDO:0000263
database cross reference: MESH:D015331
hasExactSynonym: Cohort Analyses

Coma
type: Class
subclass of: Abnormal Nervous System Physiology
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Magnetic Resonance Imaging
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Personal Medical History
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Test
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Culture
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: A profound state of unconsciousness associated with depressed cerebral activity from which the individual cannot be aroused. Coma generally occurs when there is dysfunction or injury involving both cerebral hemispheres or the brain stem reticular formation.
curator note: The specific type of Blood Test (s) used to diagnose a coma should be specified. -- -- Named Individual removed (is diagnosed by): -- As in any neurologic condition, history and examination form the cornerstone of diagnosis when the patient is in a coma; however, history must be obtained from family, friends, or EMS. The Glasgow Coma Scale is a system of examining a comatose patient. It is helpful for evaluating the depth of the coma, tracking the patient's progress, and predicting (somewhat) the ultimate outcome of the coma. The Glasgow Coma Scale assigns a different number of points for exam results in three different categories: opening the eyes, verbal response (using words or voice to respond), and motor response (moving a part of the body). Fifteen is the largest possible number of total points, indicating the highest level of functioning. The highest level of functioning would be demonstrated by an individual who spontaneously opens his/her eyes, gives appropriate answers to questions about his/her situation, and can carry out a command (such as "move your leg" or "nod your head"). Three is the least possible number of total points and would be given to a patient for whom not even a painful stimulus is sufficient to provoke a response. In the middle are those patients who may be able to respond, but who require an intense or painful stimulus, and whose response may demonstrate some degree of brain malfunctioning (such as a person whose only response to pain in a limb is to bend that limb in toward the body). When performed as part of the admission examination, a Glasgow score of three to five points often suggests that the patient has likely suffered fatal brain damage, while eight or more points indicates that the patient's chances for recovery are good. Expansion of the pupils and respiratory pattern are also important. Metabolic causes of coma are diagnosed from blood work and urinalysis to evaluate blood chemistry, drug screen, and blood cell abnormalitie…
definition source: http://purl.bioontology.org/ontology/MESH/D003128
existence in other ontologies: Sufficient
previous identifier: SCDO:0000265
database cross reference: MESH:D003128
hasExactSynonym: Comas

Comorbid Disease
type: Class
subclass of: Disease
subclass of: Phenotype
definition: A co-existing or additional disease with reference to an initial diagnosis or with reference to the index condition that is the subject of study.
curator note: Request inclusion into relevant ontology As per: "Transition and Sickle Cell Disease" by Michael R. DeBaun, Joseph Telfair -- Include here: -- Asthma -- Osteonecrosis of the Femoral Head -- Restrictive Lung Disease (currently Chronic Restrictive Lung Disease in SCDO) -- Retinopathy -- Cardiac Dysfunction -- Renal Dysfunction/Renal Failure -- -- ...and others
existence in other ontologies: Few but definitions not freely available
creator: SCDO (Jade Hotchkiss)
dc:source: D015897
hasExactSynonym: Additional Disease
hasExactSynonym: Co-Existing Disease
hasExactSynonym: Co-Morbid Condition
hasExactSynonym: Co-Morbid Disease

Comparative Study
type: Class
subclass of: Epidemiologic Studies
definition: Comparison of outcomes, results, responses, etc for different techniques, therapeutic approaches or other inputs.
definition source: http://purl.bioontology.org/ontology/MESH/D003160
existence in other ontologies: Sufficient
previous identifier: SCDO:0000268
database cross reference: MESH:D003160
hasExactSynonym: Comparative Studies

Complementary Therapy
type: Class
subclass of: Therapeutics
definition: Therapeutic practices which are not currently considered an integral part of conventional allopathic medical practice. They may lack biomedical explanations but as they become better researched some (physical therapy modalities; diet; acupuncture) become widely accepted whereas others (humors, radium therapy) quietly fade away, yet are important historical footnotes. Therapies are termed as Complementary when used in addition to conventional treatments and as Alternative when used instead of conventional treatment. Year introduced: 2002(1986).
definition source: http://purl.bioontology.org/ontology/MESH/D000529
existence in other ontologies: Sufficient
previous identifier: SCDO:0000271
database cross reference: MESH:D000529
hasExactSynonym: Complementary Medicine

obsolete Compound Heterozygous Hemoglobinopathy
type: Class
subclass of: from phenotype
definition: 'Compound heterozygosity in medical genetics is the condition of having two heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state. [Curator team: []]'
deprecated: true

Conjunctival Comma Sign
type: Class
subclass of: Abnormality of the Eye
subclass of: Ophthalmologic Complication
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Slit-Lamp Examination
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: Dark red, comma- or corkscrew-shaped vascular fragment that appears to be isolated from neighboring blood vessels in the conjunctiva. Normally benign, this lesion can serve as the first diagnostic sign of sickle cell retinopathy. The conjunctival comma sign results from transient vaso-occlusive processes in the microvasculature of bulbar conjunctiva. It is not seen in sickle trait, but is common in SCD.
curator note: Request inclusion into relevant ontology.
definition source: Ballas et al 2010 Am J Hematol
existence in other ontologies: None

obsolete Consensus Development Conference
type: Class
subclass of: obsolete Publication Type
definition: 'A work that consists of summary statements representing the majority and current agreement of physicians, scientists, and other professionals meeting to reach a consensus on a selected subject. [Curator team: []]'
definition source: http://purl.bioontology.org/ontology/MESH/D016446
database cross reference: MESH:D016446
deprecated: true

obsolete Consensus Development Conference, NIH
type: Class
subclass of: obsolete Consensus Development Conference
definition: 'Work consisting of summary statements, from a conference sponsored by NIH, representing the majority of current opinion of physicians, scientists, and other professionals on a selected subject. [Curator team: []]'
definition source: http://purl.bioontology.org/ontology/MESH/D016447
database cross reference: MESH:D016447
hasExactSynonym: NIH Consensus Development Conference
deprecated: true

Consumer Assessment of Healthcare Providers and Systems (CAHPS) Health Plan Survey 4.0 Child Medicaid Questionnaire
type: Class
subclass of: Quality of Care Measure
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: A tool for collecting standardized information on enrollees' experiences with health plans and their services.
curator note: Request inclusion into NCIT below "Research or Clinical Assessment Tool".
definition source: https://www.phenxtoolkit.org/protocols/view/820102
has protocol: PhenX protocol: Quality of Care - Children #820102
has respondents: Proxy (Primary caregiver)
has_application_toward: Used to assess the patient-reported health care needs and quality of service from health care providers for individuals with chronic conditions such as sickle cell disease (SCD).
validated for age ranges: Children and adolescents, ages 17 and younger
freely available: yes
existence in other ontologies: None
dc:source: https://www.phenxtoolkit.org/protocols/view/820102
database cross reference: PhenX:820102
comment: This measure includes general questions about access to care and quality of care and additional questions about the services provided to children with chronic conditions. Items CC1-CC38 of the questionnaire are version 4.0 of the Children with Chronic Conditions Item Set.

Controlled Pre-Post Studies
type: Class
subclass of: Epidemiologic Studies
definition: A study in which observations are made before and after an intervention, both in a group that receives the intervention and in a control group that does not.
definition source: http://purl.bioontology.org/ontology/MESH/D065187
existence in other ontologies: Sufficient
previous identifier: SCDO:0000282
database cross reference: MESH:D065187
hasExactSynonym: Controlled Before-After Studies

obsolete Controlled Clinical Trial
type: Class
subclass of: obsolete Clinical Trial
definition: 'A work that reports on a clinical trial involving one or more test treatments, at least one control treatment, specified outcome measures for evaluating the studied intervention, and a bias-free method for assigning patients to the test treatment. The treatment may be drugs, devices, or procedures studied for diagnostic, therapeutic, or prophylactic effectiveness. Control measures include placebos, active medicine, no-treatment, dosage forms and regimens, historical comparisons, etc. When randomization using mathematical techniques, such as the use of a random numbers table, is employed to assign patients to test or control treatments, the trial is characterized as a randomized controlled trial. [Curator team: []]'
definition source: http://purl.bioontology.org/ontology/MESH/D018848
database cross reference: MESH:D018848
deprecated: true

Controlled Clinical Trials as Topic
type: Class
subclass of: Clinical Trials as Topic
definition: Works about clinical trials involving one or more test treatments, at least one control treatment, specified outcome measures for evaluating the studied intervention, and a bias-free method for assigning patients to the test treatment. The treatment may be drugs, devices, or procedures studied for diagnostic, therapeutic, or prophylactic effectiveness. Control measures include placebos, active medicines, no-treatment, dosage forms and regimens, historical comparisons, etc. When randomization using mathematical techniques, such as the use of a random numbers table, is employed to assign patients to test or control treatments, the trials are characterized as randomized controlled trials as topic.
definition source: http://purl.bioontology.org/ontology/MESH/D018849
existence in other ontologies: Sufficient
previous identifier: SCDO:0000284
database cross reference: MESH:D018849

Coping Skill
type: Class
subclass of: Mental Health
definition: A state of harmony between internal needs and external demands and the processes used in achieving this condition.
definition source: http://purl.bioontology.org/ontology/MESH/D000223
existence in other ontologies: Sufficient
previous identifier: SCDO:0000286
database cross reference: MESH:D000223
hasExactSynonym: Adaptive Behavior
hasExactSynonym: Adaptive Behaviors
hasExactSynonym: Coping Behavior
hasExactSynonym: Coping Behaviors
hasExactSynonym: Coping Skills
hasExactSynonym: Psychologic Adaptation
hasExactSynonym: Psychological Adaptation

Coping Strategies Questionnaire revised for Sickle Cell Disease (CSQ-SCD)
type: Class
subclass of: Quality of Life Measure
definition: The CSQ-SCD consists of 78 items, which make up seven scales related to coping with pain in general: Diverting attention, Reinterpreting pain sensations, Calming self-statements, Ignoring pain sensations, Praying and hoping, Catastrophising, and Increasing activity level; together with six scales developed as specifically relevant to sickle cell disease: Fear self-statements, Anger self-statements, Isolation, Taking fluids, Resting, and Heat/cold/massage. Patients rated their use of each response from 0 = never to 6 = always, and scores were averaged to produce a mean for each scale. Two additional aspects were assessed by single items: perceived ability to control pain was rated from 0 = no control to 6 = complete control, and perceived ability to decrease pain was rated from 0 = can't decrease it at all to 6 = can decrease it completely.
curator note: Request inclusion into NCIT below "Research or Clinical Assessment Tool".
definition source: Abrams M.R., Phillips G. and Keefe F.J. (1989). Sickle cell disease pain: Relation of coping strategies
has cross-cultural adaptation: Multiple countries and cultural groups
has respondents: Self
has target population: Adults with SCD
selection criteria met: Demonstrated validity with SCD populations USA and UK; several publications.
validated for age ranges: Adults
existence in other ontologies: None
dc:source: Gil K.M., Abrams M.R., Phillips G. and Keefe F.J. (1989). Sickle cell disease pain: Relation of coping strategies to adjustment. Journal of Consulting and Clinical Psychology, 57, 725-731.
hasExactSynonym: CSQ-SCD
hasExactSynonym: Coping Strategies Questionnaire revised for Sickle Cell Disease

Coping Strategies Questionnaire revised for Sickle Cell Disease Children (CSQ-SCD Children)
type: Class
subclass of: Quality of Life Measure
definition: The CSQ-SCD consists of 78 items, which make up seven scales related to coping with pain in general: Diverting attention, Reinterpreting pain sensations, Calming self-statements, Ignoring pain sensations, Praying and hoping, Catastrophising, and Increasing activity level; together with six scales developed as specifically relevant to sickle cell disease: Fear self-statements, Anger self-statements, Isolation, Taking fluids, Resting, and Heat/cold/massage. Patients rated their use of each response from 0 = never to 6 = always, and scores were averaged to produce a mean for each scale. Two additional aspects were assessed by single items: perceived ability to control pain was rated from 0 = no control to 6 = complete control, and perceived ability to decrease pain was rated from 0 = can't decrease it at all to 6 = can decrease it completely.
curator note: Request inclusion into NCIT below "Research or Clinical Assessment Tool".
definition source: Gil K.M., Williams D.A., Thompson, R.J. and Kinney, T.R. (1991). Sickle cell disease in children and adolescents: The relation of child and parent pain coping strategies to adjustment. Journal of Pediatric Psychology, 16, 643-663.
has cross-cultural adaptation: Multiple countries and cultural groups
has respondents: Self
has target population: Children with SCD
selection criteria met: Demonstrated validity with SCD populations USA and UK; several publications.
validated for age ranges: Children
existence in other ontologies: None
dc:source: Gil K.M., Williams D.A., Thompson, R.J. and Kinney, T.R. (1991). Sickle cell disease in children and adolescents: The relation of child and parent pain coping strategies to adjustment. Journal of Pediatric Psychology, 16, 643-663.
hasExactSynonym: CSQ-SCD Children

Corticosteroid-Induced Adverse Event
type: Class
subclass of: Causal Adverse Drug Event
subclass of: Restriction
  on property: induced by
  some values from: Corticosteroid
definition: A causal adverse drug event that is induced by a corticosteroid.
curator note: Request inclusion into OAE below "Causal Adverse Drug Event".
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
dc:source: S1526054213001218
dc:source: https://www.ncbi.nlm.nih.gov/pubmed/18717146
dc:source: https://www.ncbi.nlm.nih.gov/pubmed/19331266

Corticosteroid-Induced Vaso-Occlusive Adverse Event
type: Class
subclass of: Corticosteroid-Induced Adverse Event
subclass of: Restriction
  on property: induced by
  some values from: Corticosteroid
definition: A corticosteroid-induced adverse event that has the outcome of vaso-occlusion.
curator note: Request inclusion into OAE below "Corticosteroid-Induced Adverse Event" (also suggested by us for inclusion).
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
dc:source: https://www.ncbi.nlm.nih.gov/pubmed/18717146

Cost of Illness
type: Class
subclass of: Healthcare Access
subclass of: Mental Health
definition: The personal cost of disease which may be economic, social, or psychological. The cost of illness may be reflected in absenteeism, productivity, response to treatment, peace of mind, or quality of life. It differs from health care costs, the societal cost of providing services related to the delivery of health care.
definition source: http://purl.bioontology.org/ontology/MESH/D017281
existence in other ontologies: Sufficient
previous identifier: SCDO:0000294
database cross reference: MESH:D017281
hasExactSynonym: Burden of Illness
hasExactSynonym: Cost of Disease
hasExactSynonym: Cost of Sickness
hasExactSynonym: Costs of Disease
hasExactSynonym: Disease Cost
hasExactSynonym: Disease Costs
hasExactSynonym: Economic Burden of Disease
hasExactSynonym: Sickness Cost

Cost-Effectiveness of Healthcare
type: Class
subclass of: Health Utility
definition: The extent to which a health intervention can be regarded as providing value for money, based on a cost-effectiveness analysis that compares the costs and health effects of the intervention. This informs decision-makers who have to determine where to allocate limited healthcare resources.
curator note: Request inclusion into relevant ontology, possibly into MESH, perhaps in an appropriate place below "Quality of Health Care".
definition source: http://www.medicine.ox.ac.uk/bandolier/painres/download/whatis/Cost-effect.pdf
existence in other ontologies: Negligable
hasExactSynonym: Health Care Economics
hasExactSynonym: Health Economics

Creatinine Blood Test
type: Class
subclass of: Blood Test
subclass of: Kidney Function Test
subclass of: Restriction
  on property: has essential measure
  some values from: Serum Creatinine Level
subclass of: Restriction
  on property: has essential measure
  some values from: Race
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: has essential measure
  some values from: History of Kidney Failure Diagnostic Instrument
subclass of: Restriction
  on property: has essential measure
  some values from: History of Type I and Type 2 Diabetes Diagnostic Instrument
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A bioassay to measure the serum concentration of creatinine, a metabolite of muscle creatine that is filtered out of blood by the kidneys.
definition source: https://www.phenxtoolkit.org/protocols/view/141401
existence in other ontologies: Sufficient
previous identifier: SCDO:0000296
database cross reference: phenX:141400
hasExactSynonym: Blood Creatinine Assay
hasExactSynonym: Blood Creatinine Test
hasExactSynonym: Serum Creatinine
hasExactSynonym: Serum Creatinine Assay

Crisis Intervention
type: Class
subclass of: Psychotherapy
definition: Brief therapeutic approach which is ameliorative rather than curative of acute psychiatric emergencies. Used in contexts such as emergency rooms of psychiatric or general hospitals, or in the home or place of crisis occurrence, this treatment approach focuses on interpersonal and intrapsychic factors and environmental modification. (APA Thesaurus of Psychological Index Terms, 7th ed)
definition source: http://purl.bioontology.org/ontology/MESH/D003419
existence in other ontologies: Sufficient
previous identifier: SCDO:0000297
database cross reference: MESH:D003419
hasExactSynonym: Crisis Interventions
hasExactSynonym: Interventions, Crisis

Cross-Sectional Studies
type: Class
subclass of: Epidemiologic Studies
definition: Studies in which the presence or absence of disease or other health-related variables are determined in each member of the study population or in a representative sample at one particular time. This contrasts with longitudinal studies which are followed over a period of time.
definition source: http://purl.bioontology.org/ontology/MESH/D003430
existence in other ontologies: Sufficient
previous identifier: SCDO:0000298
database cross reference: MESH:D003430
hasExactSynonym: Cross-Sectional Analysis
hasExactSynonym: Cross-Sectional Study

Culture
type: Class
subclass of: Quality of Life
definition: A collective expression for all behaviour patterns acquired and socially transmitted through symbols. Culture includes customs, traditions, and language.
definition source: http://purl.bioontology.org/ontology/MESH/D003469
existence in other ontologies: Sufficient
previous identifier: SCDO:0000299
database cross reference: MESH:D003469
hasExactSynonym: Cultural Beliefs
hasExactSynonym: Cultural Values

Curative Therapeutics
type: Class
subclass of: Therapeutics
definition: Therapeutics relating to or used in the cure of diseases.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO
dc:source: http://www.merriam-webster.com/dictionary/curative

Current Age
type: Class
subclass of: Age
definition: The length of time that a person has lived since their birth up until the current day.
existence in other ontologies: Few but available definitions not adequate
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Current Chronological Age

Current Educational Attainment
type: Class
subclass of: Demographic Factor
subclass of: Education
subclass of: Socioeconomic Factors
subclass of: Quality of Life Related Personal Attribute
subclass of: Restriction
  on property: has essential measure
  some values from: Annual Family Income
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: The respondent's highest level of education at the current time.
curator note: Request inclusion into MESH below "Socioeconomic Factors".
definition source: https://www.phenxtoolkit.org/protocols/view/11001
existence in other ontologies: Few but definitions not freely available
hasExactSynonym: Educational Attainment

Current Employment Status
type: Class
subclass of: Demographic Factor
subclass of: Socioeconomic Factors
subclass of: Quality of Life Related Personal Attribute
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: The respondent's current employment status.
definition source: https://www.phenxtoolkit.org/protocols/view/11301
has protocol: PhenX protocol: Current Employment Status #11301
existence in other ontologies: Sufficient
previous identifier: SCDO:0000306
database cross reference: phenX:11301
hasExactSynonym: Employment Status

Current Marital Status
type: Class
subclass of: Demographic Factor
subclass of: Socioeconomic Factors
subclass of: Quality of Life Related Personal Attribute
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: The respondent's current marital status.
curator note: Can add sub-classes of "Marital Status" from MESH.
definition source: https://www.phenxtoolkit.org/protocols/view/10902
has protocol: PhenX protocol: Current Marital Status #10902
existence in other ontologies: Sufficient
previous identifier: SCDO:0000307
database cross reference: phenX:10902
hasExactSynonym: Marital Status
hasExactSynonym: Marital or Partnership Status

Blood Cystatin C Level
type: Class
subclass of: Blood Chemistry Measurement
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: SCDO_1000310
definition: The amount of the protein cystatin C (formerly gamma trace, post-gamma-globulin or neuroendocrine basic polypeptide) found in a specified sample of blood. This extracellular cystatin subtype is abundantly expressed in bodily fluids.
curator note: This class is used as a biomarker of kidney function and kidney disease.
definition source: CMO_0002777
definition source: http://purl.bioontology.org/ontology/MESH/D055316
definition source: http://www.ebi.ac.uk/efo/EFO_0004617
existence in other ontologies: Suggest update to description in CMO
dc:source: http://www.revespcardiol.org/en/cystatin-c-and-cardiovascular-risk/articulo/13149959/
database cross reference: CMO:0002777
hasExactSynonym: Blood CC Level
hasExactSynonym: Cystatin 3 Level
hasExactSynonym: Gamma Trace Level
hasExactSynonym: Gamma-Trace Level
hasExactSynonym: Neuroendocrine Basic Polypeptide Level
hasExactSynonym: Post Gamma Globulin Level
hasExactSynonym: Post-Gamma-Globulin Level
hasRelatedSynonym: Blood Cst3 Level

D57 Sickle-Cell Disorders
type: Class
subclass of: ICD-10-CM Diagnosis Codes
definition: A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia.
definition source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-
existence in other ontologies: Sufficient
previous identifier: SCDO:0000311
database cross reference: ICD10CM:D57
hasExactSynonym: D57

D57.0 Hb-SS disease with crisis
type: Class
subclass of: D57 Sickle-Cell Disorders
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Disease-SS
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Painful Event
definition: Broad term used to describe several different acute conditions occurring with sickle cell disease, including aplastic crisis, hemolytic crisis, and vasoocclusive crisis.
definition source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.0
existence in other ontologies: Sufficient
previous identifier: SCDO:0000312
database cross reference: ICD10CM:D57.0
hasExactSynonym: D57.0
hasExactSynonym: Hb-SS disease with vasoocclusive pain
hasExactSynonym: Sickle cell anemia with crisis
hasExactSynonym: Sickle cell anemia with vasoocclusive pain

D57.01 Hb-SS disease with acute chest syndrome
type: Class
subclass of: D57.0 Hb-SS disease with crisis
subclass of: Restriction
  on property: code requires phenotype
  some values from: Acute Chest Syndrome
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Disease-SS
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Painful Event
definition: -
existence in other ontologies: Few but definitions not available
dc:source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.01
database cross reference: ICD10CM:D57.01
hasExactSynonym: D57.01
hasExactSynonym: Hb-SS disease with acute chest syndrome
hasExactSynonym: Sickle cell anemia with acute chest syndrome
hasExactSynonym: Sickle cell anemia, acute chest syndrome

D57.02 Hb-SS disease with splenic sequestration
type: Class
subclass of: D57.0 Hb-SS disease with crisis
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Disease-SS
subclass of: Restriction
  on property: code requires phenotype
  some values from: Acute Splenic Sequestration Crisis
definition: -
existence in other ontologies: Few but definitions not available
dc:source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.02
database cross reference: ICD10CM:D57.02
hasExactSynonym: Acute sickle cell splenic sequestration crisis
hasExactSynonym: D57.02
hasExactSynonym: Hb-SS disease with splenic sequestration
hasExactSynonym: Sickle cell anemia acute crisis splenic sequestration

D57.1 Sickle-cell disease without crisis
type: Class
subclass of: D57 Sickle-Cell Disorders
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Disease-SS
definition: -
existence in other ontologies: Few but definitions not freely available
dc:source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.1
database cross reference: ICD10CM:D57.1
hasExactSynonym: D57.1
hasExactSynonym: Sickle cell anemia without crisis
hasExactSynonym: Sickle-cell disease without crisis

D57.2 Sickle-cell/Hb-C disease
type: Class
subclass of: D57 Sickle-Cell Disorders
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Disease-SC
definition: One of the sickle cell disorders characterized by the presence of both hemoglobin s and hemoglobin c. It is similar to, but less severe than sickle cell anemia.
definition source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.2
existence in other ontologies: Sufficient
previous identifier: SCDO:0000316
database cross reference: ICD10CM:D57.2
hasExactSynonym: D57.2

D57.20 Sickle-cell/Hb-C disease without crisis
type: Class
subclass of: D57.2 Sickle-cell/Hb-C disease
subclass of: Restriction
  on property: code requires phenotype
  some values from: Asymptomatic
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Disease-SC
definition: -
existence in other ontologies: Few but definitions not freely available
dc:source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.20
database cross reference: ICD10CM:D57.20
hasExactSynonym: D57.20
hasExactSynonym: Sickle Cell Disease-SC without crisis
hasExactSynonym: Sickle-cell/Hb-C disease without crisis

D57.21 Sickle-cell/Hb-C disease with crisis
type: Class
subclass of: D57.2 Sickle-cell/Hb-C disease
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Painful Event
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Disease-SC
definition: -
existence in other ontologies: Few but definitions not freely available
dc:source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.21
database cross reference: ICD10CM:D57.21
hasExactSynonym: D57.21
hasExactSynonym: Sickle Cell Disease-SC with crisis
hasExactSynonym: Sickle-cell/Hb-C disease with crisis

D57.211 Sickle-cell/Hb-C disease with acute chest syndrome
type: Class
subclass of: D57.21 Sickle-cell/Hb-C disease with crisis
subclass of: Restriction
  on property: code requires phenotype
  some values from: Acute Chest Syndrome
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Painful Event
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Disease-SC
definition: -
existence in other ontologies: Few but definitions not freely available
dc:source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.211
database cross reference: ICD10CM:D57.211
hasExactSynonym: Acute chest syndrome due to sickle cell-hemoglobin c disease crisis
hasExactSynonym: Acute chest syndrome sickle cell hb-c crisis
hasExactSynonym: D57.211
hasExactSynonym: Sickle Cell Disease-SC with acute chest syndrome
hasExactSynonym: Sickle-cell/Hb-C disease with acute chest syndrome

D57.212 Sickle-cell/Hb-C disease with splenic sequestration
type: Class
subclass of: D57.21 Sickle-cell/Hb-C disease with crisis
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Disease-SC
subclass of: Restriction
  on property: code requires phenotype
  some values from: Acute Splenic Sequestration Crisis
definition: -
existence in other ontologies: Few but definitions not freely available
dc:source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.212
database cross reference: ICD10CM:D57.212
hasExactSynonym: D57.212
hasExactSynonym: Sickle Cell Disease-SC with splenic sequestration
hasExactSynonym: Sickle-cell/Hb-C disease with splenic sequestration

D57.219 Sickle-cell/Hb-C disease with crisis, unspecified
type: Class
subclass of: D57.21 Sickle-cell/Hb-C disease with crisis
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Painful Event
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Disease-SC
definition: -
existence in other ontologies: Few but definitions not freely available
dc:source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.219
database cross reference: ICD10CM:D57.219
hasExactSynonym: D57.219
hasExactSynonym: Sickle Cell Disease-SC with crisis NOS
hasExactSynonym: Sickle Cell Disease-SC with crisis, unspecified
hasExactSynonym: Sickle Cell Disease-SC with vasoocclusive pain NOS
hasExactSynonym: Sickle cell-hemoglobin c disease with crisis
hasExactSynonym: Sickle-cell/Hb-C disease with crisis NOS
hasExactSynonym: Sickle-cell/Hb-C disease with crisis, unspecified
hasExactSynonym: Sickle-cell/Hb-C disease with vasoocclusive pain NOS

D57.3 Sickle-cell trait
type: Class
subclass of: D57 Sickle-Cell Disorders
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Trait
definition: The condition of being heterozygous for hemoglobin S.
definition source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.3
existence in other ontologies: Sufficient
previous identifier: SCDO:0000322
database cross reference: ICD10CM:D57.3
hasExactSynonym: D57.3

D57.4 Sickle-cell thalassemia
type: Class
subclass of: D57 Sickle-Cell Disorders
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Thalassemia
definition: Hemolytic anemia, in which patients are heterozygous for both the sickle cell gene and a thalassemia gene.
definition source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.4
existence in other ontologies: Sufficient
previous identifier: SCDO:0000323
database cross reference: ICD10CM:D57.4
hasExactSynonym: D57.4

D57.40 Sickle-cell thalassemia without crisis
type: Class
subclass of: D57.4 Sickle-cell thalassemia
subclass of: Restriction
  on property: code requires phenotype
  some values from: Asymptomatic
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Beta Thalassemia
definition: -
existence in other ontologies: Few but definitions not freely available
dc:source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.40
database cross reference: ICD10CM:D57.40
hasExactSynonym: D57.40

D57.41 Sickle-cell thalassemia, unspecified, with crisis
type: Class
subclass of: D57.4 Sickle-cell thalassemia
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Beta Thalassemia
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Painful Event
definition: -
existence in other ontologies: Few but definitions not freely available
dc:source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.41
database cross reference: ICD10CM:D57.41
hasExactSynonym: D57.41
hasExactSynonym: Sickle-cell thalassemia with (painful) crisis
hasExactSynonym: Sickle-cell thalassemia with crisis
hasExactSynonym: Sickle-cell thalassemia with vasoocclusive pain

D57.411 Sickle-cell thalassemia, unspecified, with acute chest syndrome
type: Class
subclass of: D57.41 Sickle-cell thalassemia, unspecified, with crisis
subclass of: Restriction
  on property: code requires phenotype
  some values from: Acute Chest Syndrome
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Beta Thalassemia
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Painful Event
definition: -
existence in other ontologies: Few but definitions not freely available
dc:source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.411
database cross reference: ICD10CM:D57.411
hasExactSynonym: D57.411
hasExactSynonym: Sickle-cell thalassemia, unspecified, with acute chest syndrome

D57.412 Sickle-cell thalassemia, unspecified, with splenic sequestration
type: Class
subclass of: D57.41 Sickle-cell thalassemia, unspecified, with crisis
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Beta Thalassemia
subclass of: Restriction
  on property: code requires phenotype
  some values from: Acute Splenic Sequestration Crisis
definition: -
existence in other ontologies: Few but definitions not freely available
dc:source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.412
database cross reference: ICD10CM:D57.412
hasExactSynonym: D57.412
hasExactSynonym: Sickle cell thalassemia with splenic sequestration
hasExactSynonym: Sickle-cell thalassemia, unspecified, with splenic sequestration

D57.419 Sickle-cell thalassemia, unspecified, with crisis
type: Class
subclass of: D57.41 Sickle-cell thalassemia, unspecified, with crisis
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Beta Thalassemia
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Painful Event
definition: -
existence in other ontologies: Few but definitions not freely available
dc:source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.419
database cross reference: ICD10CM:D57.419
hasExactSynonym: D57.419
hasExactSynonym: Sickle-cell thalassemia with (painful) crisis NOS
hasExactSynonym: Sickle-cell thalassemia with vasoocclusive pain NOS
hasExactSynonym: Sickle-cell thalassemia, unspecified, with crisis

D57.8 Other sickle-cell disorders
type: Class
subclass of: D57 Sickle-Cell Disorders
definition: -
existence in other ontologies: Few but definitions not freely available
dc:source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.8
database cross reference: ICD10CM:D57.8
hasExactSynonym: D57.8
hasExactSynonym: Other sickle-cell disorders

D57.80 Other sickle-cell disorders without crisis
type: Class
subclass of: D57.8 Other sickle-cell disorders
subclass of: Restriction
  on property: code requires phenotype
  some values from: Asymptomatic
definition: -
existence in other ontologies: Few but definitions not freely available
dc:source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.80
database cross reference: ICD10CM:D57.80
hasExactSynonym: D57.80

D57.81 Other sickle-cell disorders with crisis
type: Class
subclass of: D57.8 Other sickle-cell disorders
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Painful Event
definition: -
existence in other ontologies: Few but definitions not freely available
dc:source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.81
database cross reference: ICD10CM:D57.81
hasExactSynonym: D57.81

D57.811 Other sickle-cell disorders with acute chest syndrome
type: Class
subclass of: D57.81 Other sickle-cell disorders with crisis
subclass of: Restriction
  on property: code requires phenotype
  some values from: Acute Chest Syndrome
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Painful Event
definition: -
existence in other ontologies: Few but definitions not freely available
dc:source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.811
database cross reference: ICD10CM:D57.811
hasExactSynonym: D57.811

D57.812 Other sickle-cell disorders with splenic sequestration
type: Class
subclass of: D57.81 Other sickle-cell disorders with crisis
subclass of: Restriction
  on property: code requires phenotype
  some values from: Acute Splenic Sequestration Crisis
definition: -
existence in other ontologies: Few but definitions not freely available
dc:source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.812
database cross reference: ICD10CM:D57.812
hasExactSynonym: D57.812

D57.819 Other sickle-cell disorders with crisis, unspecified
type: Class
subclass of: D57.81 Other sickle-cell disorders with crisis
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Painful Event
definition: -
existence in other ontologies: Few but definitions not freely available
dc:source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.819
database cross reference: ICD10CM:D57.819
hasExactSynonym: D57.819

obsolete Protein Molecule
type: Class
subclass of: deprecated terms
definition: 'Protein molecule are large, complex molecules that play many critical roles in the body. They do most of the work in cells and are required for the structure, function, and regulation of the body's tissues and organs. [Curator team: []]'
definition source: https://ghr.nlm.nih.gov/primer/howgeneswork/protein
deprecated: true

Delta Beta Thalassemia
type: Class
subclass of: Beta Thalassemia
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Recessive
subclass of: Restriction
  on property: has causal genotype
  some values from: HBB and HBD Deletion
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB and HBD Deletion
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: SCDO_1000209
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Reduced Hemoglobin A
definition: A form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.
definition source: Orphanet_231237
existence in other ontologies: Sufficient
previous identifier: SCDO:0000343
database cross reference: ORPHA:231237
hasExactSynonym: Delta Beta Thalassaemia
hasExactSynonym: Delta-Beta-Thalassaemia
hasExactSynonym: Delta-Beta-Thalassemia
hasExactSynonym: F Thalassaemia

Delta Thalassemia
type: Class
subclass of: Thalassemia
definition: A hereditary disorder characterized by reduced or absent delta-globin thus effecting the level of hemoglobin A2, a minor component of adult hemoglobin monitored in the diagnosis of beta-thalassemia.
definition source: http://purl.bioontology.org/ontology/MESH/D055538
existence in other ontologies: Sufficient
previous identifier: SCDO:0000344
database cross reference: MESH:D055538
hasExactSynonym: Delta Thalassaemia
hasExactSynonym: Delta Thalassaemias
hasExactSynonym: Delta Thalassemias
hasExactSynonym: Delta-Thalassaemia
hasExactSynonym: Delta-Thalassaemias
hasExactSynonym: Delta-Thalassemia

Dengue Fever
type: Class
subclass of: Viral Infection
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: An acute febrile disease transmitted by the bite of AEDES mosquitoes infected with Dengue Virus. It is self-limiting and characterized by fever, myalgia, headache, and rash. Severe Dengue is a more virulent form of dengue.
definition source: http://purl.bioontology.org/ontology/MESH/D003715
existence in other ontologies: Sufficient
previous identifier: SCDO:0000346
database cross reference: MESH:D003715
hasExactSynonym: Break Bone Fever
hasExactSynonym: Break-Bone fever
hasExactSynonym: Breakbone Fever
hasExactSynonym: Dengue

deprecated Dental System
type: Class
subclass of: from phenotype
definition: 'The system pertaining to teeth, oral cavity, and associated structures. [Curator team: []]'
definition source: http://medical-dictionary.thefreedictionary.com/dentistry
deprecated: true

deprecated terms
type: Class
subclass of: Thing
definition: Terms that are no longer being used in the ontology.

Depression
type: Class
subclass of: Behavioural Abnormality
subclass of: Mental Health
subclass of: Quality of Life Related SCD Symptoms and Complications
subclass of: Restriction
  on property: treated with
  some values from: Psychotherapy
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A common mental disorder, characterized by sadness, hopelessness, loss of interest or pleasure, feelings of guilt or low self-worth, disturbed sleep or appetite, feelings of tiredness, and poor concentration. Depression can be long-lasting or recurrent, substantially impairing an individual's ability to function at work or school or cope with daily life.
definition source: http://www.who.int/topics/depression/en/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000360
database cross reference: SIO:000824
hasExactSynonym: Depressive Symptoms
hasExactSynonym: Low Mood

Dexterity
type: Class
subclass of: Physical Functioning
definition: Skill in performing tasks, especially with the hands.
curator note: Request inclusion into relevant ontology
definition source: http://en.oxforddictionaries.com/definition/dexterity
existence in other ontologies: Few but definitions not freely available
creator: SCDO

Diagnostic Device
type: Class
subclass of: Diagnostics
definition: A medical device used to diagnose medical conditions.
definition source: http://purl.obolibrary.org/obo/ERO_0001448
existence in other ontologies: Sufficient
previous identifier: SCDO:0000376
database cross reference: ERO:0001448

Diagnostics
type: Class
subclass of: SCDO
definition: Diagnostic tools (including the instruments, laboratory assays and methods of patient examination) used for differential diagnosis, the measurements obtained using these tools, and the diagnostic devices used in obtaining the measurements.
curator note: Request inclusion into relevant ontology.
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Diclofenac
type: Class
subclass of: Non-Steroidal Anti-Inflammatory Drug
subclass of: Antipyretic
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: A non-steroidal anti-inflammatory agent (NSAID) with antipyretic and analgesic actions. It is primarily available as the sodium salt.
definition source: D004008
existence in other ontologies: Sufficient
previous identifier: SCDO:0000380
database cross reference: MESH:D004008
hasExactSynonym: 2-((2,6-dichlorophenyl)amino)benzeneacetic acid
hasExactSynonym: Diclofenac Acid
hasExactSynonym: Orthofen
hasExactSynonym: [2-(2,6-dichloroanilino)phenyl]acetic acid

Diet, Food, and Nutrition
type: Class
subclass of: Health Behaviour
subclass of: Restriction
  on property: treats
  some values from: Osteopenia
subclass of: Restriction
  on property: treats
  some values from: Encephalopathy
subclass of: Restriction
  on property: treats
  some values from: Migraine
subclass of: Restriction
  on property: treats
  some values from: Peripheral Neuropathy
definition: Concepts involved with nutritional physiology, including categories of substances eaten for sustenance, nutritional phenomena and processes, eating patterns and habits, and measurable nutritional parameters.
curator note: Should this term rather be replaced by more specific terms such as Dietary Intake? Or have such terms as sub-classes?
definition source: http://purl.bioontology.org/ontology/MESH/D000066888
existence in other ontologies: Sufficient
previous identifier: SCDO:0000382
database cross reference: MESH:D000066888

obsolete Diffusion Capacity by Biochemical Methods
type: Class
subclass of: deprecated terms
deprecated: true

Diffusion Capacity of Lung
type: Class
subclass of: Respiratory System Measurement
subclass of: Restriction
  on property: has essential measure
  some values from: Ethnic Group
subclass of: Restriction
  on property: has essential measure
  some values from: Race
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Body Height
subclass of: Restriction
  on property: has essential measure
  some values from: Body Weight
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Diffusion Capacity Test
definition: The amount of a gas taken up, by the pulmonary capillary blood from the alveolar gas, per minute per unit of average pressure of the gradient of the gas across the blood-air barrier.
definition source: http://purl.bioontology.org/ontology/MESH/D011653
existence in other ontologies: Sufficient
previous identifier: SCDO:0000384
database cross reference: MESH:D011653
hasExactSynonym: Alveolar membrane diffusion capacity
hasExactSynonym: DL
hasExactSynonym: Diffusing Capacity
hasExactSynonym: Membrane diffusion capacity
hasExactSynonym: Pulmonary Diffusing Capacity

Diffusion Capacity Test
type: Class
subclass of: Pulmonary Function Test
subclass of: Restriction
  on property: has essential measure
  some values from: Ethnic Group
subclass of: Restriction
  on property: has essential measure
  some values from: Race
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Body Height
subclass of: Restriction
  on property: has essential measure
  some values from: Body Weight
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: measures
  some values from: Diffusion Capacity of Lung
definition: Clinical assessment to determine the capacity of an individual's lung to exchange gases (e.g., oxygen and carbon dioxide) across the alveolar-capillary interface.
curator note: Suggest update to label in PhenX (from "Lung Function - Diffusion Capacity") Need to add equipment used for this test under "Devices" and link to them below.
definition source: https://www.phenxtoolkit.org/protocols/view/810301
has protocol: PhenX protocol: Lung Function - Diffusion Capacity #810301
existence in other ontologies: Suggest update to label
database cross reference: phenX:810301
hasExactSynonym: Pulmonary Diffusing Capacity Test

Disability-Adjusted Life Year (DALY)
type: Class
subclass of: Health Utility
subclass of: Quality of Life and Care Measure
definition: One DALY can be thought of as one lost year of "healthy" life. The sum of these DALYs across the population, or the burden of disease, can be thought of as a measurement of the gap between current health status and an ideal health situation where the entire population lives to an advanced age, free of disease and disability.
definition source: en
has cross-cultural adaptation: Multiple countries and cultural groups
has respondents: Self; Proxy
has target population: All
selection criteria met: WHO Global Burden of Disease assessment, also used in SCD studies
validated for age ranges: Children and adults
freely available: no
existence in other ontologies: Few but definitions not specific enough
hasExactSynonym: DALY
hasExactSynonym: Disability-Adjusted Life Year
comment: Calculation: DALY = YLL + YLD - The YLL basically correspond to the number of deaths multiplied by the standard life expectancy at the age at which death occurs. The basic formula for YLL (without yet including other social preferences discussed below), is the following for a given cause, age and sex: YLL = N x L where: N = number of deaths L = standard life expectancy at age of death in years. Because YLL measure the incident stream of lost years of life due to deaths, an incidence perspective has also been taken for the calculation of YLD in the original Global Burden of Disease Study for year 1990 and in subsequent WHO updates for years 2000 to 2004. To estimate YLD for a particular cause in a particular time period, the number of incident cases in that period is multiplied by the average duration of the disease and a weight factor that reflects the severity of the disease on a scale from 0 (perfect health) to 1 (dead). The basic formula for YLD is the following (again, without applying social preferences): YLD = I x DW x L where: I = number of incident cases; DW = disability weight; L = average duration of the case until remission or death (years). Prevalence YLD - The recent GBD 2010 study published by IHME in December 2012 used an updated life expectancy standard for the calculation of YLL and based the YLD calculation on prevalence rather than incidence: YLD = P x DW where: P = number of prevalent cases; DW = disability weight.

Disaster
type: Class
subclass of: Physical Environment
definition: Sudden calamitous events producing great material damage, loss, and distress. They are the result of natural phenomena such as earthquakes, floods, etc. Calamities producing great damage, loss of life, and distress. They include results of natural phenomena and man-made phenomena. Normal conditions of existence are disrupted and the level of impact exceeds the capacity of the hazard-affected community.
definition source: http://purl.bioontology.org/ontology/MESH/D004190
existence in other ontologies: Sufficient
previous identifier: SCDO:0000388
database cross reference: MESH:D004190
hasExactSynonym: Disasters
hasExactSynonym: Natural Disaster
hasExactSynonym: Natural Disasters

Disease Modifier
type: Class
subclass of: SCDO
definition: A factor that modifies one or more aspects of a disease, such as sickle cell disease (SCD) (e.g. aspects such as temporal pattern, age of onset and mortality), for specific phenotype(s) of the disease.
curator note: Request inclusion into relevant ontology
curator note: These article contains a recent description of disease modifiers for SCD: http://www.nejm.org/doi/10.1056/NEJMra1510865 -- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4562292/ -- -- Paper mentioning haplotypes and severity: -- https://www.nature.com/scitable/topicpage/sickle-cell-anemia-a-look-at-global-8756219 -- -- Initially, the HP term "Clinical Modifier" (HP:0012823) was used to define this class, but its usage was found to be more "ontology-based" than what the SCDO intended.
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Phenotypic Modifier

Doppler Ultrasound Machine - 2 Megahertz
type: Class
subclass of: Ultrasound Machine
subclass of: Restriction
  on property: used by diagnostic tool
  some values from: Stroke Risk Test in Children with Sickle Cell Disease
definition: A diagnostic ultrasound-based imaging technique operating at the frequency range of 2 megahertz. This machine makes use of the doppler effect to measure and visualise blood flow for possible pathology or lesions within blood vessels.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Clair Ingram)

Drug Clearance Decreased AE
type: Class
subclass of: Adverse Drug Event
definition: An adverse event that has an outcome of a decreased amount of the drug excreted by the body.
definition source: http://purl.obolibrary.org/obo/OAE_0000887
existence in other ontologies: Sufficient
previous identifier: SCDO:0000397
database cross reference: OAE:0000887

Drug Dependence AE
type: Class
subclass of: Adverse Drug Event
definition: An adverse drug event that results in the development of a dependence on the drug.
definition source: http://purl.obolibrary.org/obo/OAE_0000888
existence in other ontologies: Sufficient
previous identifier: SCDO:0000398
database cross reference: OAE:0000888

Drug Intake
type: Class
subclass of: Health Behaviour
definition: The amount of drug substances taken into the body.
curator note: This seemed an obvious addition to the modifier class?
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Drug Intolerance AE
type: Class
subclass of: Adverse Drug Event
definition: A drug AE that has an outcome of lower threshold to the normal pharmacologic action of a drug.
definition source: http://purl.obolibrary.org/obo/OAE_0000891
existence in other ontologies: Sufficient
previous identifier: SCDO:0000400
database cross reference: OAE:0000891

Drug Withdrawal Syndrome AE
type: Class
subclass of: Adverse Drug Event
definition: An adverse event that results in symptoms that occur after the discontinuation of the use of a certain drug.
definition source: http://purl.obolibrary.org/obo/OAE_0000893
existence in other ontologies: Sufficient
previous identifier: SCDO:0000401
database cross reference: OAE:0000893

Drug-Induced Neuropathy AE
type: Class
subclass of: Causal Adverse Drug Event
subclass of: Restriction
  on property: induced by
  some values from: Drug
definition: A neuropathy AE that is induced by a drug administration.
definition source: http://purl.obolibrary.org/obo/OAE_0000165
existence in other ontologies: Sufficient
previous identifier: SCDO:0000402
database cross reference: OAE:0000165

deprecated Ear, Nose and Throat
type: Class
subclass of: from phenotype
definition: 'The combined specialties of diseases of the ear, pharynx, and larynx, including the upper respiratory tract and diseases of the head and neck, tracheobronchial tree, and esophagus. [Curator team: []]'
definition source: http://medical-dictionary.thefreedictionary.com/ear+nose+and+throat
hasExactSynonym: Otolaryngology
deprecated: true

Ecchymosis
type: Class
subclass of: Abnormality of the Vasculature
definition: A small hemorrhagic spot, larger than a petechia, in the skin or mucous membrane forming a nonelevated, rounded or irregular, blue or purplish patch.
curator note: Suggest update to description. The term in the HPO was not detailed enough.
definition source: https://books.google.tn/books
existence in other ontologies: Suggest update to description
database cross reference: HP:0031364
hasExactSynonym: Ecchymoses

Echocardiogram
type: Class
subclass of: Ultrasound Test
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: A physiological assay that uses standard ultrasound techniques to take two-dimensional pictures of the cardiovascular system and can produce accurate assessment of the velocity of blood and cardiac tissue at any arbitrary point using pulsed or continuous wave Doppler ultrasound.
definition source: http://purl.obolibrary.org/obo/ERO_0000385
existence in other ontologies: Sufficient
previous identifier: SCDO:0000409
database cross reference: ERO:0000385
hasExactSynonym: Cardiac ECHO
hasExactSynonym: Cardiac US Scan
hasExactSynonym: Diagnostic Ultrasound of Heart
hasExactSynonym: Echocardiographic procedure
hasExactSynonym: Echocardiography
hasExactSynonym: US Scan of Heart
hasExactSynonym: Ultrasonic cardiography
hasExactSynonym: Ultrasonography of Heart
hasExactSynonym: Ultrasound of Heart

Echocardiography Machine
type: Class
subclass of: Diagnostic Device
subclass of: Restriction
  on property: has output measurement
  some values from: Heart Valve Measurement
definition: A machine used for ultrasonic recording of the size, motion, and composition of the heart and surrounding tissues.
curator note: Request inclusion into relevant ontology.
definition source: http://purl.bioontology.org/ontology/MESH/D004452
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Education
type: Class
subclass of: Quality of Life
definition: Acquisition of knowledge as a result of instruction in a formal course of study.
definition source: http://purl.bioontology.org/ontology/MESH/D004493
existence in other ontologies: Sufficient
previous identifier: SCDO:0000414
database cross reference: MESH:D004493
hasExactSynonym: Schooling

Electrocardiogram
type: Class
subclass of: SCDO_1000313
definition: The visual output that an electrocardiograph produces.
curator note: Suggest update to description in ERO?
definition source: http://en.wiktionary.org/wiki/electrocardiogram
existence in other ontologies: Suggest update to description
database cross reference: ERO:0000383
hasExactSynonym: ECG
hasExactSynonym: EKG

Electrocardiographic Monitor
type: Class
subclass of: Diagnostic Device
subclass of: Restriction
  on property: used by diagnostic tool
  some values from: Continuous Ambulatory ECG
definition: Device which makes prolonged electrocardiographic recordings on a portable tape recorder (Holter-type system) or solid-state device (real-time system), while the patient undergoes normal daily activities; useful in the diagnosis and management of intermittent cardiac arrhythmias and transient myocardial ischemia.
definition source: http://bioportal.bioontology.org/ontologies/CRISP/
existence in other ontologies: Sufficient
previous identifier: SCDO:0000416
database cross reference: CRISP:1393-7164
hasExactSynonym: Ambulatory Electrocardiographic Monitor
hasExactSynonym: Electrocardiocorder

Electrocardiography
type: Class
subclass of: Heart Function Test
subclass of: Restriction
  on property: uses diagnostic device
  some values from: Cardioscope
subclass of: Restriction
  on property: uses diagnostic device
  some values from: Electrocardiograph
definition: Recording of the moment-to-moment electromotive forces of the heart as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a cathode ray tube display.
curator note: Request that MESH removes ECG, EKG and Elecrocardiogram as synonyms.
definition source: D004562
existence in other ontologies: Sufficient
previous identifier: SCDO:0000417
database cross reference: MESH:D004562

Electroencephalogram
type: Class
subclass of: SCDO_1000313
definition: A graphic record of the electrical activity of the brain as recorded by an electroencephalograph.
curator note: Request inclusion into relevant ontology
definition source: http://medical-dictionary.thefreedictionary.com/electroencephalogram
existence in other ontologies: Few but definitions not freely available

Electroencephalograph
type: Class
subclass of: Diagnostic Device
subclass of: Restriction
  on property: used by diagnostic tool
  some values from: Electroencephalography
definition: An instrument that measures electrical potentials on the scalp and generates a record of the electrical activity of the brain.
curator note: Request inclusion into relevant ontology
definition source: http://medical-dictionary.thefreedictionary.com/electroencephalograph
existence in other ontologies: Few but definitions not freely available
hasExactSynonym: Encephalograph

Electroencephalography
type: Class
subclass of: Cerebral Function Assay
subclass of: Restriction
  on property: uses diagnostic device
  some values from: Electroencephalograph
subclass of: Restriction
  on property: measures
  some values from: Brain Electrical Activity
definition: Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain.
definition source: http://purl.bioontology.org/ontology/MESH/D004569
existence in other ontologies: Sufficient
previous identifier: SCDO:0000420
database cross reference: MESH:D004569
hasExactSynonym: EEG

Electronic Health Records
type: Class
subclass of: Health Records
definition: Media that facilitate transportability of pertinent information concerning patient's illness across varied providers and geographic locations. Some versions include direct linkages to online consumer health information that is relevant to the health conditions and treatments related to a specific patient.
definition source: http://purl.bioontology.org/ontology/MESH/D057286
existence in other ontologies: Sufficient
previous identifier: SCDO:0000423
database cross reference: MESH:D057286
hasExactSynonym: Computerized Health Records
hasExactSynonym: Computerized Medical Records
hasExactSynonym: Electronic Health Record
hasExactSynonym: Electronic Medical Record
hasExactSynonym: Electronic Medical Records

Electrophoresis
type: Class
subclass of: Chemical Assay
definition: An electrochemical process in which macromolecules or colloidal particles with a net electric charge migrate in a solution under the influence of an electric current.
curator note: Perhaps change label to "Hemoglobin Electrophoresis"? Exactsynonym "Hb ELP". See dc:source provided.
definition source: http://purl.bioontology.org/ontology/MESH/D004586
existence in other ontologies: Sufficient
previous identifier: SCDO:0000424
dc:source: test
database cross reference: MESH:D004586

deprecated Endocrine and Metabolic
type: Class
subclass of: from phenotype
definition: The system pertaining to the stomach, intestines, and associated organs including liver, gallbladder, and pancreas.
term replaced by: Abnormality of Metabolism/Homeostasis
term replaced by: SCDO_0002780
definition source: http://medical-dictionary.thefreedictionary.com/gastroenterology
hasExactSynonym: Gastroenterology
deprecated: true

Environmental Disease Modifier
type: Class
subclass of: Disease Modifier
definition: An environmental factor that modifies one or more aspects of sickle cell disease (SCD) (such as temporal pattern, age of onset and mortality) for specific phenotype(s) in the Phenotype class.
curator note: Request inclusion into relevant ontology Perhaps include MESH term "Life Change Events" as a main sub-class, with "Disaster" (under Physical Environment) copied below it?
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Enzymatic Assay
type: Class
subclass of: Biochemical Assay
definition: A method used to measure the relative activity of a specific enzyme or its concentration in solution. Typically an enzyme substrate is added to a buffer solution containing enzyme and the rate of conversion of substrate to product is measured under controlled conditions. Many classical enzymatic assay methods involve the use of synthetic colorimetric substrates and measuring the reaction rates using a spectrophotometer.
definition source: http://purl.bioontology.org/ontology/MESH/D057075
existence in other ontologies: Sufficient
previous identifier: SCDO:0000436
database cross reference: MESH:D057075
hasExactSynonym: Enzyme Assay

Epidemiologic Studies
type: Class
subclass of: Research
definition: Studies designed to examine associations, commonly, hypothesized causal relations. They are usually concerned with identifying or measuring the effects of risk factors or exposures. The common types of analytic study are case-control studies; cohort studies; and cross-sectional studies.
curator note: Term to be adapted as necessary to match EDDA Study Designs Taxonomy
definition source: http://purl.bioontology.org/ontology/MESH/D016021
existence in other ontologies: Sufficient
previous identifier: SCDO:0000437
database cross reference: MESH:D016021
hasExactSynonym: Epidemiological Studies

deprecated Epidemiologic Study Characteristics as Topic
type: Class
subclass of: obsolete Research Activity
definition: Types and formulations of studies used in epidemiological and clinical research.
curator note: Term to be adapted as necessary to match EDDA Study Designs Taxonomy
definition source: http://purl.bioontology.org/ontology/MESH/D016020
database cross reference: MESH:D016020
hasExactSynonym: Epidemiologic Study Characteristics
deprecated: true

Epilepsy Screener
type: Class
subclass of: Clinical or Research Assessment Questionnaire
subclass of: Diagnostic Instrument
definition: A questionnaire to assess epilepsy, a condition characterized by recurrent seizures and which is a component of over 40 neurological disorders (Aminoff, et al., 2005).
definition source: https://www.phenxtoolkit.org/protocols/view/130401
existence in other ontologies: Sufficient
previous identifier: SCDO:0000440
database cross reference: phenX:130401

General Health Questionnaire (GHQ)
type: Class
subclass of: Quality of Life Measure
definition: The GHQ is a screening device for identifying minor psychiatric disorders in the general population and within community or non-psychiatric clinical settings such as primary care or general medical outpatients. Suitable for all ages from adolescent upwards (not children), it assesses the respondent's current state and asks if that differs from his or her usual state. It is therefore sensitive to short-term psychiatric disorders but not to long-standing attributes of the respondent. The self-administered questionnaire focuses on two major areas: inability to carry out normal functions; appearance of new and distressing phenomena. It is available in the following versions: GHQ-60 -- the fully detailed 60-item questionnaire; GHQ-30 -- a short form without items relating to physical illness; GHQ-28 -- a 28 item scaled version -- assesses somatic symptoms, anxiety and insomnia, social dysfunction and severe depression; GHQ-12 -- quick, reliable and sensitive short form, ideal for research studies.
curator note: Add the different versions of this questionnaire, as listed in the description here.
curator note: Request inclusion into NCIT below "Research or Clinical Assessment Tool".
definition source: Goldberg, David; Hillier, Valerie (1979). "A scaled version of the General Health Questionnaire". Psychological Medicine. Cambridge University Press. 9 (01): 139–145.
existence in other ontologies: Few but definitions not freely available
creator: SCDO
hasExactSynonym: GHQ

Generalised Anxiety Disorder Questionnaire (GAD-7)
type: Class
subclass of: Quality of Life Measure
subclass of: SCDO_1000297
definition: The GAD-7 is a self-administered patient questionnaire used as a screening tool and severity measure for generalised anxiety disorder. The GAD-7 score is calculated by assigning scores of 0, 1, 2, and 3, to the response categories of 'not at all', 'several days', 'more than half the days', and 'nearly every day', respectively, and adding together the scores for the seven questions. Scores of 5, 10, and 15 are taken as the cut-off points for mild, moderate and severe anxiety, respectively. When used as a screening tool, further evaluation is recommended when the score is 10 or greater.
definition source: Spitzer RL, Kroenke K, Williams JB, et al; A brief measure for assessing generalized anxiety disorder: the GAD-7. Archives of Internal Medicine. 2006;166(10):1092-7.
existence in other ontologies: Few but definitions not specific enough
database cross reference: NCIT:C88893
hasExactSynonym: GAD-7
hasExactSynonym: Generalised Anxiety Disorder Questionnaire

Genetic Counseling
type: Class
subclass of: Genetic Service
subclass of: Restriction
  on property: treats
  some values from: Agenesis of Corpus Callosum
definition: An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.
definition source: http://purl.bioontology.org/ontology/MESH/D005817
existence in other ontologies: Sufficient
previous identifier: SCDO:0000443
database cross reference: MESH:D005817
hasExactSynonym: Prenatal Genetic Counseling

Genetic Disease Modifier
type: Class
subclass of: Biological Disease Modifier
subclass of: Restriction
  on property: modifies
  some values from: Genetic Disorder
definition: A biological disease modifier that is of a genetic nature.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Genetic Service
type: Class
subclass of: Preventative Therapeutics
definition: Organized services to provide diagnosis, treatment, and prevention of genetic disorders.
definition source: http://purl.bioontology.org/ontology/MESH/D033142
existence in other ontologies: Sufficiient
database cross reference: MESH:D033142
hasExactSynonym: Genetic Services

Genetic Technique
type: Class
subclass of: Diagnostic Technique, Method, Test or Assay
definition: Chromosomal, biochemical, intracellular, and other methods used in the study of genetics.
curator note: This and its sub-classes need work!
definition source: http://purl.bioontology.org/ontology/MESH/D005821
existence in other ontologies: Sufficient
previous identifier: SCDO:0000448
database cross reference: MESH:D005821
hasExactSynonym: Genetic Technic
hasExactSynonym: Genetic Technics
hasExactSynonym: Genetic Techniques

Glaucoma (Secondary to Presence of Blood in the Anterior Chamber of the Eye)
type: Class
subclass of: Abnormality of the Eye
subclass of: Ophthalmologic Complication
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Retinal Examination
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Personal Medical History
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Physical Examination
subclass of: Restriction
  on property: treated with
  some values from: Surgery
definition: Elevated ocular pressure caused by clogging of the trabecular meshwork and by impaired aqueous humor outflow from blood in the anterior chamber (due to ocular trauma or surgery).
curator note: Request inclusion into relevant ontology as more specific type (sub-class) of glaucoma.
definition source: Ballas et al 2010 Am J Hematol
existence in other ontologies: None
hasExactSynonym: Glaucomas

Global Mental Status Screener
type: Class
subclass of: Clinical or Research Assessment Questionnaire
subclass of: Diagnostic Instrument
definition: A test to assess the respondent's overall mental capability.
definition source: http://bioportal.bioontology.org/ontologies/PHENX
existence in other ontologies: Sufficient
previous identifier: SCDO:0000455
database cross reference: phenX:130700

Globin Locus
type: Class
subclass of: Genetic Locus
definition: A genetic locus responsible for the encoding of globins.
curator note: Request inclusion into relevant ontology, perhaps below "Genetic Locus" in MESH.
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Glomerular Filtration Rate
type: Class
subclass of: Blood Chemistry Measurement
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Measurement of the flow rate of filtered fluid through the kidney, calculated either by comparative measurements of substances in the blood and urine, or estimated from a blood test.
definition source: http://www.ebi.ac.uk/efo/EFO_0005208
existence in other ontologies: Sufficient
previous identifier: SCDO:0000457
database cross reference: EFO:0005208
hasExactSynonym: GFR

G6PD
type: Class
subclass of: Non-Globin Gene
definition: This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene.
curator note: Exists in other ontologies but we have provided a description more relevant to its relationship with SCD.
definition source: http://www.ncbi.nlm.nih.gov/gene/2539
existence in other ontologies: Not relevant to context of sickle cell
hasExactSynonym: G-6-PD
hasExactSynonym: G6PD1
hasExactSynonym: Glucose-6-Phosphate 1-Dehydrogenase Gene
hasExactSynonym: Glucose-6-Phosphate Dehydrogenase Gene

Growth Delay
type: Class
subclass of: Growth Abnormality
subclass of: Quality of Life Related SCD Symptoms and Complications
subclass of: Restriction
  on property: treated with
  some values from: Cognitive Therapy
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A deficiency or slowing down of growth pre- and postnatally greater than two standard deviations from the age- and sex-related normal.
curator note: Suggest update to description in HPO.
definition source: http://purl.obolibrary.org/obo/HP_0001510
existence in other ontologies: Suggest update to description
database cross reference: HP:0001510
hasExactSynonym: Delayed Growth
hasExactSynonym: Growth Deficiency
hasExactSynonym: Growth Failure
hasExactSynonym: Growth Retardation
hasExactSynonym: Poor Growth
hasExactSynonym: Retarded Growth

Haptoglobin Blood Test
type: Class
subclass of: Blood Test
subclass of: Restriction
  on property: measures
  some values from: Serum Haptoglobin Level
definition: A bioassay to measure haptoglobin, which is produced by the liver and transports hemoglobin to the liver for recycling.
curator note: Suggest update to label in PhenX (from "Haptoglobin Level").
definition source: https://www.phenxtoolkit.org/protocols/view/810801
existence in other ontologies: Suggest update to label
database cross reference: phenX:10801

Health Behaviour
type: Class
subclass of: Environmental Disease Modifier
definition: Individual lifestyle and behavior which may or may not enhance or maintain good health.
curator note: Suggest the NCIT updates their description for this term to include negative /risk inreasing behaviour? Include: -- gaining better control of your diabetes -- lowering cholesterol -- lowering blood pressure -- maintaining a healthy body weight -- eating a balanced diet -- Include these from MESH: -- Treatment Refusal -- Vaccination Refusal
definition source: http://bioportal.bioontology.org/ontologies/APAONTO
existence in other ontologies: Sufficient
previous identifier: SCDO:0000487
database cross reference: APAONTO:Health_Behavior
hasExactSynonym: Health Behavior

Health Beliefs
type: Class
subclass of: Culture
definition: People's beliefs about health problems, perceived benefits of action and barriers to action, and self-efficacy.
definition source: Health belief model
existence in other ontologies: Not relevant to context of sickle cell
dc:source: Health belief model
dc:source: Health-Belief Model
comment: The health belief model suggests that health beliefs explain engagement (or lack of engagement) in health-promoting behaviour.

Health Financing
type: Class
subclass of: Health System
definition: Health financing is concerned with how financial resources are generated, allocated and used in health systems. Health financing policy focuses on how to move closer to universal coverage with issues related to: (i) how and from where to raise sufficient funds for health; (ii) how to overcome financial barriers that exclude many poor from accessing health services; or (iii) how to provide an equitable and efficient mix of health services.
curator note: Request inclusion into relevant ontology
definition source: https://multimedia.wpro.who.int/galleries/189/health-financing/35
existence in other ontologies: None
hasExactSynonym: Health Care Resources
hasExactSynonym: Healthcare Resources

Health Insurance Coverage
type: Class
subclass of: Demographic Factor
subclass of: Healthcare Access
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: Whether the respondent is covered by health insurance or some other form of health care coverage at the time of the interview.
curator note: Suggest inclusion into MESH. The phenX term is actually referring to a protocol for collecting data on Health Insurance Coverage. The protocol is somewhat U.S. specific. Should probably be modified to be more relevant to the African setting.
definition source: https://www.phenxtoolkit.org/protocols/view/11502
has protocol: PhenX protocol: Health Insurance Coverage #11502
existence in other ontologies: Negligable
comment: Also applicable to a population not just to an individual.

Health Literacy
type: Class
subclass of: Coping Skill
definition: Degree to which individuals have the capacity to obtain, process and understand basic health information and services needed to make appropriate health decisions.
definition source: http://purl.bioontology.org/ontology/MESH/D057220
existence in other ontologies: Sufficient
previous identifier: SCDO:0000491
database cross reference: MESH:D057220
hasExactSynonym: Knowledge about Sickle Cell Disease
hasNarrowSynonym: Genetic Counseling

Health Records
type: Class
subclass of: Medical Records
definition: Health data accessible to the patient and others.
definition source: http://purl.bioontology.org/ontology/MESH/D055991
existence in other ontologies: Sufficient
previous identifier: SCDO:0000492
database cross reference: MESH:D055991
hasExactSynonym: Health Records, Personal
hasExactSynonym: Personal Health Information
hasExactSynonym: Personal Health Record
hasExactSynonym: Personal Health Records
hasExactSynonym: Personal Medical Record
hasExactSynonym: Personal Medical Records

Health Service Utilization
type: Class
subclass of: Quality of Health Care
definition: The measure of the population's use of the health care services available to them. This includes the utilization of hospital resources, Personal Care Home (PCH) resources, and physician resources. Health care utilization and health status are used to examine how efficiently a health care system produces health in a population.
definition source: http://mchp-appserv.cpe.umanitoba.ca/viewDefinition.php
existence in other ontologies: Few but definitions not specific enough
dc:source: http://mchp-appserv.cpe.umanitoba.ca/viewDefinition.php
hasExactSynonym: Health Care Service Utilization
hasExactSynonym: Health Care Utitlization
hasExactSynonym: Healthcare Utitlization

Health System
type: Class
subclass of: Quality of Health Care
definition: A system responsible for delivering services that improve, maintain or restore the health of individuals and their communities. This includes the care provided by hospitals and family doctors, but also less visible tasks such as the prevention and control of communicable disease, health promotion, health workforce planning and improving the social, economic or environmental conditions in which people live.
curator note: Suggest update to description in Medline Plus Health Topics
definition source: http://www.euro.who.int/en/health-topics/Health-systems/pages/health-systems
existence in other ontologies: Suggest update to description
hasExactSynonym: Health Care Delivery
hasExactSynonym: Health Care System
hasExactSynonym: Health Care Systems

Health Utility
type: Class
subclass of: Quality of Health Care
definition: Utility measures of health related quality of life are preference values that patients attach to their overall health status. In clinical trials, utility measures summarize both positive and negative effects of an intervention into one value between 0 (equal to death) and 1 (equal to perfect health). These measures allow for comparison of patient outcomes of different diseases, and for comparison between various health care interventions. There are 2 different approaches to utility measurement.
curator note: Request inclusion into relevant ontology
definition source: http://www.ncbi.nlm.nih.gov/pubmed/7674256
existence in other ontologies: None
hasExactSynonym: Health Utility Index
hasExactSynonym: Health Utility Measure

Healthcare Access
type: Class
subclass of: Quality of Health Care
definition: The ease with which an individual can obtain needed medical services.
curator note: Additional WG note: organization of health system [insurance]; electronic (portable) health records; special issues related to pain and pain medications; levels of care (primary, secondary, tertiary) (Location – [rural/urban; mobile units]; hours; affordability; timeliness). Availability of personnel. Equipment treatments other resources
definition source: health-care-access.html
existence in other ontologies: Negligable
creator: SCDO
dc:source: health-care-access.html
dc:source: en
hasExactSynonym: Access to Healthcare
hasExactSynonym: Health Care Access
comment: The WHO Constitution envisages "...the highest attainable standard of health as a fundamental right of every human being." The right to health includes access to timely, acceptable, and affordable health care of appropriate quality.

Healthy Diet
type: Class
subclass of: Lifestyle Therapy
subclass of: Health Behaviour
subclass of: Restriction
  on property: treats
  some values from: Diabetes Mellitus
subclass of: Restriction
  on property: treats
  some values from: Insulin Resistance
subclass of: Restriction
  on property: treats
  some values from: Osteopenia
subclass of: Restriction
  on property: treats
  some values from: Obesity
subclass of: Restriction
  on property: treats
  some values from: Migraine
subclass of: Restriction
  on property: treats
  some values from: Subarachnoid Hemorrhage
subclass of: Restriction
  on property: treats
  some values from: Dyslipidemia
subclass of: Restriction
  on property: treats
  some values from: Transient Monocular Blindness
definition: Dietary patterns which have been found to be important in reducing disease risk.
definition source: http://purl.bioontology.org/ontology/MESH/D000072001
existence in other ontologies: Sufficient
previous identifier: SCDO:0000497
database cross reference: MESH:D000072001
hasExactSynonym: Healthy Eating

Healthy Lifestyle
type: Class
subclass of: Lifestyle
subclass of: Restriction
  on property: treats
  some values from: Insulin Resistance
subclass of: Restriction
  on property: treats
  some values from: Osteopenia
subclass of: Restriction
  on property: treats
  some values from: Obstructive Sleep Apnea
subclass of: Restriction
  on property: treats
  some values from: Dyslipidemia
subclass of: Restriction
  on property: treats
  some values from: Transient Monocular Blindness
definition: A pattern of behavior involving lifestyle choices which ensure optimum health. Examples are eating right; maintaining physical, emotional, and spiritual wellness, and taking preemptive steps against communicable diseases.
definition source: http://purl.bioontology.org/ontology/MESH/D000070497
existence in other ontologies: Sufficient
previous identifier: SCDO:0000498
database cross reference: MESH:D000070497
hasExactSynonym: Healthy Life Style

Heart Function Test
type: Class
subclass of: Physiological Assay
definition: Examinations used to diagnose and treat heart conditions.
definition source: http://purl.bioontology.org/ontology/MESH/D006334
existence in other ontologies: Sufficient
previous identifier: SCDO:0000500
database cross reference: MESH:D006334
hasExactSynonym: Heart Function Tests
hasExactSynonym: Pulmonary Function Test

Heart Rate
type: Class
subclass of: SCDO_1000317
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: The number of times the heart ventricles contract per unit of time, usually per minute.
definition source: http://www.ebi.ac.uk/efo/EFO_0004326
existence in other ontologies: Sufficient
previous identifier: SCDO:0000501
database cross reference: EFO:0004326
hasExactSynonym: Heart Beat
hasExactSynonym: Pulse
hasExactSynonym: Pulse Rate

Heart Valve Measurement
type: Class
subclass of: SCDO_1000317
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Echocardiogram
subclass of: Restriction
  on property: output of diagnostic device
  some values from: Echocardiography Machine
definition: Any value resulting from the quantification of a morphological or physiological parameter pertaining to the heart valves.
curator note: Request inclusion into relevant ontology. Perhaps below "Heart Measurement" in the CMO. Can add sub-classes as per the measurements given in the Diagnostic Criteria below the Protocol section in PhenX for "Heart Valve Function". Sub-classes that are also morphological measurements can be included below "Body Morphological Measurement"
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Hematology Analyzer
type: Class
subclass of: Diagnostic Device
subclass of: Restriction
  on property: has output measurement
  some values from: Red Blood Cell Count
subclass of: Restriction
  on property: has output measurement
  some values from: White Blood Cell Count
subclass of: Restriction
  on property: has output measurement
  some values from: Platelet Count
definition: A measurement device used to perform complete blood counts, erythrocyte sedimentation rates (ESRs), or coagulation tests.
definition source: http://purl.obolibrary.org/obo/ERO_0000494
existence in other ontologies: Sufficient
previous identifier: SCDO:0000504
database cross reference: ERO:0000494
hasExactSynonym: Haematology Analyser

Hematology Screening Test
type: Class
subclass of: Blood Test
definition: A test to detect potential blood disorders or diseases in people who do not have any symptoms of disease.
curator note: Request inclusion into relevant ontology.
definition source: screening tests for common diseases 85,P00965
existence in other ontologies: Few but definitions not freely available
hasExactSynonym: Haematology Screening Test

Hematopoietic Stem Cell Transplantation
type: Class
subclass of: Curative Therapeutics
subclass of: Restriction
  on property: treats
  some values from: Acute Chest Syndrome
subclass of: Restriction
  on property: treats
  some values from: Severe Anemia
subclass of: Restriction
  on property: treats
  some values from: Lymphoma
subclass of: Restriction
  on property: treats
  some values from: Sickle Cell Disease-SD
subclass of: Restriction
  on property: treats
  some values from: Sickle Cell Disease-S Beta Zero Thalassemia
subclass of: Restriction
  on property: treats
  some values from: Hemoglobin Barts Hydrops Fetalis
subclass of: Restriction
  on property: treats
  some values from: Hemoglobin C Disease
subclass of: Restriction
  on property: treats
  some values from: Moderate Sickle Cell Disease-S Beta Minus Thalassemia
subclass of: Restriction
  on property: treats
  some values from: Severe Sickle Cell Disease-S Beta Minus Thalassemia
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Transfer of hematopoietic stem cells from bone marrow or blood between individuals within the same species (transplantation, homologous) or transfer within the same individual (transplantation, autologous). Hematopoietic stem cell transplantation has been used as an alternative to bone marrow transplantation in the treatment of a variety of neoplasms.
definition source: http://purl.bioontology.org/ontology/MESH/D018380
existence in other ontologies: Sufficient
previous identifier: SCDO:0000506
database cross reference: MESH:D018380
hasExactSynonym: BMT
hasExactSynonym: Bone Marrow Transplant
hasExactSynonym: Hematopoietic SCT

deprecated Hematopoietic System
type: Class
subclass of: obsolete Hemic and Immune Systems
definition: The blood-making organs and tissues, principally the bone marrow and lymph nodes.
term replaced by: SCDO_1000264
definition source: http://purl.bioontology.org/ontology/MESH/D006413
database cross reference: MESH:D006413
deprecated: true

Hematuria
type: Class
subclass of: Abnormality of the Kidney
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
definition: Presence of blood in the urine.
definition source: http://purl.bioontology.org/ontology/MESH/D006417
existence in other ontologies: Sufficient
previous identifier: SCDO:0000508
database cross reference: MESH:D006417
hasExactSynonym: Blood in Urine
hasExactSynonym: Hematurias

HMOX1
type: Class
subclass of: Non-Globin Gene
definition: This gene encodes the enzyme, heme oxygenase 1, an essential enzyme in heme catabolism and cellular homeostasis.
curator note: Suggest update to description in NCIT (for "HMOX1 Gene")
definition source: http://bioportal.bioontology.org/ontologies/NCIT
definition source: http://www.ncbi.nlm.nih.gov/gene/3162
existence in other ontologies: Suggest update to description
hasExactSynonym: HMOX1 Gene
hasExactSynonym: HO-1
hasExactSynonym: HO1 Gene
hasExactSynonym: Heat Shock Protein, 32-kD Gene
hasExactSynonym: Heme Oxygenase (Decycling) 1 Gene
hasExactSynonym: Heme Oxygenase 1 gene
hasExactSynonym: Hemeoxygenase 1 Gene
hasExactSynonym: Hemoxygenase-1 Gene

obsolete Hemic and Immune Systems
type: Class
subclass of: from phenotype
definition: Organs involved in the production of BLOOD, including the cellular and the molecular components essential in providing defense against foreign organisms or substances.
deprecated: true

Hemoglobin C
type: Class
subclass of: Abnormal Hemoglobin in SCD
subclass of: Abnormal Hemoglobin
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6LYS
definition: A commonly occurring abnormal hemoglobin in which lysine replaces a glutamic acid residue at the sixth position of the beta chains. It results in reduced plasticity of erythrocytes.
definition source: http://purl.bioontology.org/ontology/MESH/D006444
existence in other ontologies: Sufficient
previous identifier: SCDO:0000513
database cross reference: MESH:D006444
hasExactSynonym: Hb C
hasExactSynonym: HbC
hasExactSynonym: HbC Hemoglobin

Hemoglobin S
type: Class
subclass of: Abnormal Hemoglobin in SCD
subclass of: Abnormal Hemoglobin
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
definition: An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the beta chain of the globin moiety. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia.
definition source: http://purl.bioontology.org/ontology/MESH/D006451
existence in other ontologies: Sufficient
previous identifier: SCDO:0000514
database cross reference: MESH:D006451
hasExactSynonym: Haemoglobin S
hasExactSynonym: Hb S
hasExactSynonym: HbS
hasExactSynonym: HbS Haemoglobin
hasExactSynonym: HbS Hemoglobin
hasExactSynonym: Sickle Haemoglobin
hasExactSynonym: Sickle Hemoglobin

Hemoglobin H
type: Class
subclass of: Abnormal Hemoglobin
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: Alpha-Globin Locus Deletion
definition: An abnormal hemoglobin composed of four beta chains. It is caused by the reduced synthesis of the alpha chain. This abnormality results in alpha-thalassemia.
definition source: http://purl.bioontology.org/ontology/MESH/D006447
existence in other ontologies: Sufficient
previous identifier: SCDO:0000515
database cross reference: MESH:D006447
hasExactSynonym: Hb H
hasExactSynonym: HbH
hasExactSynonym: HbH Hemoglobin

deprecated Hemoglobin A2 Profile
type: Class
subclass of: deprecated terms
term replaced by: SCDO_1000698
existence in other ontologies: None
deprecated: true

Hemoglobin Barts
type: Class
subclass of: Abnormal Hemoglobin
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: Homozygous Deletion of HBA1 and HBA2
definition: An abnormal hemoglobin, composed of four gamma globin chains, causing it to have an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues.
curator note: Additional info from the definition in HPO: "Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues."
curator note: Suggest update to description in HP as we have done.
definition source: http://purl.obolibrary.org/obo/HP_0005507
existence in other ontologies: Suggest update to description
database cross reference: HP:0005507
hasExactSynonym: Haemoglobin Bart's
hasExactSynonym: Haemoglobin Barts
hasExactSynonym: Hb Bart's
hasExactSynonym: Hb Barts
hasExactSynonym: Hemoglobin Bart's

Hemoglobin Barts Hydrops Fetalis
type: Class
subclass of: Alpha Thalassemia
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Electrophoresis
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Gap PCR
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Cordocentesis
subclass of: Restriction
  on property: treated with
  some values from: Gene Therapy
subclass of: Restriction
  on property: treated with
  some values from: Hematopoietic Stem Cell Transplantation
subclass of: Restriction
  on property: treated with
  some values from: Iron Chelation Therapy
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Recessive
subclass of: Restriction
  on property: has causal genotype
  some values from: Homozygous Deletion of HBA1 and HBA2
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: Homozygous Deletion of HBA1 and HBA2
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: SCDO_1000241
definition: The most severe form of alpha-thalassemia and is almost always lethal, and characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia. It is caused by the presence of Hemoglobin Barts, a hemoglobin with four gamma chains, which has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues
curator note: Suggest update to description in ORDO as we have done.
definition source: http://www.orpha.net/ORDO/Orphanet_163596
existence in other ontologies: Suggest update to description
database cross reference: Orphanet:163596
hasExactSynonym: Alpha-Thalassemia Hydrops Fetalis
hasExactSynonym: Alpha-Thalassemia Major
hasExactSynonym: Haemoglobin Barts Hydrops Fetalis
hasExactSynonym: Hb Barts
hasExactSynonym: Hb Barts Syndrome
hasExactSynonym: Hemoglobin Bart's Hydrops Fetalis
hasExactSynonym: Hemoglobin Barts Hydrops Fetalis Syndrome
hasExactSynonym: Homozygous Alpha 0-Thalassemia

Hemoglobin C Disease
type: Class
subclass of: Structural Hemoglobinopathy
subclass of: Restriction
  on property: diagnosed using tool
  some values from: High-Performance Liquid Chromatography
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Complete Blood Count
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Smear
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Electrophoresis
subclass of: Restriction
  on property: treated with
  some values from: Blood Transfusion
subclass of: Restriction
  on property: treated with
  some values from: Hematopoietic Stem Cell Transplantation
subclass of: Restriction
  on property: treated with
  some values from: Hydroxyurea
subclass of: Restriction
  on property: treated with
  some values from: Folic Acid
subclass of: Restriction
  on property: has mode of inheritance
  some values from: SCDO_1000242
subclass of: Restriction
  on property: has causal genotype
  some values from: SCDO_1000232
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6LYS
subclass of: Restriction
  on property: has manifestation
  some values from: Splenomegaly
subclass of: Restriction
  on property: has manifestation
  some values from: Hemolytic Anemia
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin C
definition: An autosomal recessive disorder resulting from the production of hemoglobin C, secondary to an amino acid substitution of lysine for glutamic acid in the sixth position of the beta chain (E6K), and characterized by mild hemolytic anemia and occasionally jaundice, though most patients are asymptomatic.
curator note: Suggest update to description in NCIT
definition source: NCIT C34675
definition source: http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hb-F-C
existence in other ontologies: Suggest update to description
database cross reference: NCIT:C34675
hasExactSynonym: Haemoglobin C Disease
hasExactSynonym: Hb C-Disease

Hemoglobin C Trait
type: Class
subclass of: Hemoglobin Trait
subclass of: Restriction
  on property: has causal genotype
  some values from: SCDO_1000225
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6LYS
subclass of: Restriction
  on property: has manifestation
  some values from: Asymptomatic
definition: The inheritance of the gene for hemoglobin C from one parent and a gene for normal adult hemoglobin (hemoglobin A) from the other parent.
curator note: Request inclusion into NCIT below "Hemoglobin Trait".
definition source: http://www.sickle-thal.nwlh.nhs.uk/blood/haemoglobinc.aspx
existence in other ontologies: Few but definitions not freely available
dc:source: haemoglobinc.aspx
hasExactSynonym: Haemoglobin C-A Disorder
hasExactSynonym: Hb AC
hasExactSynonym: Hemoglobin C-A Disorder
hasExactSynonym: Heterozygous for Hb C

deprecated Hemoglobin C-Beta Thalassemia
type: Class
subclass of: obsolete Compound Heterozygous Hemoglobinopathy
definition: 'A form of beta-thalassemia with a phenotype of mild to moderate hemolytic anemia. Patients are often asymptomatic but if present symptoms include anemia and enlarged spleen.'
curator note: The description could be more detailed.
definition source: http://www.orpha.net/consor/cgi-bin/OC_Exp.php
hasExactSynonym: Hb C-Beta Thalassemia Syndrome
hasExactSynonym: Hemoglobin C Beta-Thalassemia
deprecated: true

Hemoglobin Variant Test
type: Class
subclass of: Blood Test
definition: A test to measure the presence and amount of a variant of hemoglobin in the blood.
curator note: Many terms below "Hemoglobin Variant Test" in SNOMED CT could be added.
curator note: Suggest update to label and description in NCIT (from "Hemoglobin Variant Measurement" and "A test to measure the variants of hemoglobin.") It is not clear whether this term was is in fact a synonym of "Hemoglobin Profile Assay". We assumed it wasn't. If it actually is, we need to address the ambiguity caused.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Suggest update to label and description
database cross reference: NCIT:C103845
hasExactSynonym: Haemoglobin Variant Observation
hasExactSynonym: Haemoglobin Variant Test
hasExactSynonym: Haemoglobinopathy Screen
hasExactSynonym: Hemoglobin Variant Measurement
hasExactSynonym: Hemoglobin Variant Observation
hasExactSynonym: Hemoglobinopathy Screen

Hemoglobin D Disease
type: Class
subclass of: Structural Hemoglobinopathy
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Recessive
subclass of: Restriction
  on property: has causal genotype
  some values from: SCDO_1000230
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, SER9TYR
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU121GLN
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLY16ARG
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, ASN19LYS
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU22GLN
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU22VAL
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, THR87LYS
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU121ALA
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin D
definition: An autosomal recessive hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).
curator note: Suggest update to description in ORDO
definition source: Orphanet_90039
definition source: http://www.doh.wa.gov/Portals/1/Documents/5220/HbDFactSheet.pdf
existence in other ontologies: Suggest update to description
database cross reference: DOID:5378
hasExactSynonym: Hb DD
hasExactSynonym: Homozygous Hemoglobin D

Hemoglobin D Trait
type: Class
subclass of: Hemoglobin Trait
subclass of: Restriction
  on property: has causal genotype
  some values from: SCDO_1000226
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, SER9TYR
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU121GLN
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLY16ARG
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, ASN19LYS
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU22GLN
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU22VAL
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, THR87LYS
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU121ALA
definition: The inheritance of the gene for hemoglobin D from one parent and a gene for normal adult hemoglobin (hemoglobin A) from the other parent.
curator note: Request inclusion into NCIT below "Hemoglobin Trait".
definition source: http://www.doh.wa.gov/Portals/1/Documents/5220/HbDFactSheet.pdf
existence in other ontologies: Few but definitions not freely available
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Hb AD

deprecated Hemoglobin D-Beta Thalassemia
type: Class
subclass of: obsolete Compound Heterozygous Hemoglobinopathy
definition: 'Hemoglobin D/xcexb2xc2xb0 thalassemia is a form of beta-thalassemia which results in a mild to moderate clinical picture. The severity of the condition depends on the degree of thalassemia and how it affects production of Hemoglobin A, however this condition is often considered fairly benign.'
definition source: http://www.doh.wa.gov/Portals/1/Documents/5220/HbDFactSheet.pdf
hasExactSynonym: HbD - BT
hasExactSynonym: Hemoglobin D Beta-Thalassemia
deprecated: true

Hemoglobin D-Ibadan
type: Class
subclass of: SCDO_1000259
definition: An unusual hemoglobin that shows all the electrophoretic features of Hb D, but has no inherited disability. This hemoglobin has a beta 87 Thr > Lys mutation.
curator note: Request inclusion into NCIT below "Hemoglobin"/"Hemoglobin Variant"/"Unusual Hemoglobin".
definition source: http://dx.doi.org/10.1038/2051273a0
definition source: https://www.omim.org/entry/141900#0062
existence in other ontologies: Few but definitions not freely available
hasExactSynonym: Hemoglobin D (badan)

Hemoglobin D-Punjab
type: Class
subclass of: Abnormal Hemoglobin in SCD
subclass of: Hemoglobin D
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU121GLN
definition: An abnormal hemoglobin (one of the types of hemoglobin D) in which glutamine replaces glutamic acid at codon 121 of beta globin.
curator note: Request inclusion in the HPO, below "Abnormal Hemoglobin"/"Hemoglobin D".
definition source: http://health.utah.gov/nsp/Disorders/HB/Hb_D_Disease_DD/FactSheet_Provider_HbDD_En.pdf
existence in other ontologies: Few but definitions not freely available
hasExactSynonym: Haemoglobin D-Punjab
hasExactSynonym: Hb D-Los Angelese
hasExactSynonym: Hb D-Punjab
hasExactSynonym: Hemoglobin D (Chicago)
hasExactSynonym: Hemoglobin D (Los Angeles)
hasExactSynonym: Hemoglobin D (North Carolina)
hasExactSynonym: Hemoglobin D (Portugal)
hasExactSynonym: Hemoglobin D (Punjab)
hasExactSynonym: Hemoglobin Oak Ridge

deprecated Hemoglobin Disease Other than C,D,E,F,H,O-Arab,S
type: Class
subclass of: from phenotype
definition: A disease caused by atypical hemoglobins molecules other than hemoglobin C,D,E, F, H, O-Arab and S.
curator note: adapted from description under ID SCDO:0001065
definition source: SCDO:0001065
definition source: http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hb-F-and-other-than-A-C-D-E-F-H-O-Arab-S
deprecated: true

Hemoglobin E Disease
type: Class
subclass of: Structural Hemoglobinopathy
subclass of: Restriction
  on property: diagnosed using tool
  some values from: High-Performance Liquid Chromatography
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Smear
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Electrophoresis
subclass of: Restriction
  on property: treated with
  some values from: Blood Transfusion
subclass of: Restriction
  on property: treated with
  some values from: Hydroxyurea
subclass of: Restriction
  on property: treated with
  some values from: Folic Acid
subclass of: Restriction
  on property: has mode of inheritance
  some values from: SCDO_1000242
subclass of: Restriction
  on property: has causal genotype
  some values from: SCDO_1000229
subclass of: Restriction
  on property: has manifestation
  some values from: Asymptomatic
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin E
definition: An autosomal recessive haemoglobinopathy characterized by an abnormal form of haemoglobin called haemoglobin E, which disrupts the oxygen-carrying ability of red blood cells. The condition can lead to mild or moderate hemolytic anemia; however, this condition often has no clinical manifestations. with a generally benign, asymptomatic presentation.
definition source: https://www.orpha.net/consor/cgi-bin/Disease_Search.php
definition source: http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hb-F-E
existence in other ontologies: Sufficient
previous identifier: SCDO:0000530
database cross reference: ORPHA:2133
hasExactSynonym: Haemoglobin E Disease
hasExactSynonym: Hb E-Disease

Hemoglobin E Trait
type: Class
subclass of: Hemoglobin Trait
subclass of: Restriction
  on property: has causal genotype
  some values from: SCDO_1000227
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU26LYS
definition: The inheritance of the gene for hemoglobin E from one parent and a gene for normal adult hemoglobin (hemoglobin A) from the other parent.
curator note: Request inclusion into NCIT below "Hemoglobin Trait".
definition source: http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hb-F-A-E
existence in other ontologies: Few but definitions not freely available
creator: SCDO
dc:source: Hb-F-A-E
hasExactSynonym: Hb AE
hasExactSynonym: Hb E Trait
comment: Hb E-carriers generally do not have any signs or symptoms related to abnormal hemoglobin.

deprecated Hemoglobin E-Beta Thalassemia
type: Class
subclass of: obsolete Compound Heterozygous Hemoglobinopathy
definition: 'Hemoglobin E/xcexb2+ thalassemia is a form of beta-thalassemia that is often, but not always, milder than hemoglobin E/xcexb2xc2xb0 thalassemia. This condition shows a marked clinically diverse picture whereby abnormalities of xcexb2-globin chain synthesis result almost asymptomatic anemia to more severe transfusion-dependant anemia (Vichinsky, 2007).'
definition source: http://www.orpha.net/consor/cgi-bin/Disease_Search.php
hasExactSynonym: Haemoglobin E-Beta Thalassemia
hasExactSynonym: Hemoglobin E Beta-Thalassemia
deprecated: true

deprecated Hemoglobin F Profile
type: Class
subclass of: deprecated terms
definition: The score of fetal hemoglobin (Hb F) in the blood of an individual.
term replaced by: SCDO_1000707
curator note: Description not clear enough.
existence in other ontologies: None
creator: SCDO (Gaston K Mazandu)
deprecated: true

obsolete Hemoglobin Lepore Baltimore
type: Class
subclass of: from phenotype
definition: A variant of Hemoglobin Lepore Syndrome.
definition source: http://en.wikipedia.org/wiki/Hemoglobin_Lepore_syndrome
hasExactSynonym: Hb Lepore Baltimore
deprecated: true

Hemoglobin Lepore Boston Disease
type: Class
subclass of: Hemoglobin Lepore Syndrome
subclass of: Restriction
  on property: diagnosed using tool
  some values from: High-Performance Liquid Chromatography
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Genetic Testing
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Isoelectric Focusing
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Recessive
subclass of: Restriction
  on property: has causal genotype
  some values from: SCDO_1000236
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: SCDO_1000209
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin Lepore Boston
definition: A variant of Hemoglobin Lepore Syndrome. Crossover occurs between glutamine at position 87 of delta chain and histidine at position 116 of beta chain. It is associated with unusual high levels of Hb F. This is the only one of the three variants of described in association with HbS.
curator note: Request inclusion into relevant ontology
definition source: C039800
definition source: http://en.wikipedia.org/wiki/Hemoglobin_Lepore_syndrome
existence in other ontologies: None
hasExactSynonym: Hb Lepore Boston Syndrome
hasExactSynonym: Hb Lepore Washington Syndrome
hasExactSynonym: Hb Lepore Washington-Boston Syndrome
hasExactSynonym: Hemoglobin Lepore Boston-Washington
hasExactSynonym: Hemoglobin Lepore Washington Syndrome
hasExactSynonym: Hemoglobin Lepore Washington-Boston Syndrome

obsolete Hemoglobin Lepore Hollandia
type: Class
subclass of: from phenotype
definition: A variant of Hemoglobin Lepore Syndrome.
definition source: http://en.wikipedia.org/wiki/Hemoglobin_Lepore_syndrome
hasExactSynonym: Hb Hollandia
deprecated: true

Hemoglobin Lepore Trait
type: Class
subclass of: Thalassemia Trait
subclass of: Restriction
  on property: has manifestation
  some values from: Asymptomatic
definition: The inheritance of the gene for hemoglobin Lepore from one parent and a gene for normal adult hemoglobin (hemoglobin A) from the other parent.
curator note: Request inclusion into relevant ontology
definition source: http://en.wikipedia.org/wiki/Hemoglobin_Lepore_syndrome
existence in other ontologies: Few but definitions not freely available
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Heterozygous Hb Lepore

deprecated Hemoglobin Lepore-Beta Thalassaemia
type: Class
subclass of: obsolete Compound Heterozygous Hemoglobinopathy
definition: 'A form of beta-thalassemia in which the patient is compound heterozygous for hemoglobin lepore and beta-thalassemia, which results in beta-thalassemia intermedia to beta-thalassemia major. [Curator team: []]'
curator note: Add HBD to Disease Modifiers (below Gene Product)? And link to it.
hasExactSynonym: Hb Lepore-B-Thalassaemia
hasExactSynonym: Hemoglobin Lepore-B-Thalassaemia
hasExactSynonym: Hemoglobin Lepore-Beta Thalassaemia Syndrome
deprecated: true

Hemoglobin M Disease
type: Class
subclass of: Hereditary Methemoglobinemia
subclass of: Structural Hemoglobinopathy
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Electrophoresis
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Enzymatic Assay
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Dominant
subclass of: Restriction
  on property: has causal genotype
  some values from: SCDO_1000233
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin M
definition: A type of dominant hereditary methemoglobinemia resulting from the production of hemoglobin M, which is readily oxidised to yield excess methemoglobin which leads to cyanosis.
curator note: Suggest update to description in MESH
definition source: D006449
definition source: a3
definition source: http://medlineplus.gov/ency/article/000562.htm
existence in other ontologies: Few but definitions not available
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Autosomal Dominant Congenital Methemoglobinemia Type II
hasExactSynonym: Autosomal Dominant Hereditary Methemoglobinemia Type II
hasExactSynonym: Hereditary MetHb Type II
hasExactSynonym: Hereditary Methemoglobinemia Type II
hasExactSynonym: M Hemoglobinopathy
hasExactSynonym: Second Form of Inherited MetHb

obsolete - Hemoglobin M Trait
type: Class
subclass of: deprecated terms
curator note: Hemoglobin M Disease is autosomal dominant, thus does not seem to have a "trait" condition.
curator note: Requires definition and source.
existence in other ontologies: None
deprecated: true

Hemoglobin O-Arab Disease
type: Class
subclass of: Structural Hemoglobinopathy
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Electrophoresis
subclass of: Restriction
  on property: has mode of inheritance
  some values from: SCDO_1000242
subclass of: Restriction
  on property: has causal genotype
  some values from: SCDO_1000231
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU121LYS
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin O-Arab
definition: A very rare autosomal recessive hemoglobinopathy characterized by an abnormal form of hemoglobin called hemoglobin O-Arab. It is associated with a mild to moderate anemia.
curator note: Request inclusion into relevant ontology
definition source: 14-3.html
definition source: http://onlinelibrary.wiley.com/doi/10.1002/pbc.24414/pdf
existence in other ontologies: None
hasExactSynonym: Hb O-Arab Disease
hasExactSynonym: Homozygous Hb O-Arab
hasExactSynonym: Homozygous Hemoglobin O-Arab

Hemoglobin O-Arab Trait
type: Class
subclass of: Hemoglobin Trait
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Electrophoresis
subclass of: Restriction
  on property: has causal genotype
  some values from: SCDO_1000228
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU121LYS
definition: The inheritance of hemoglobin O-Arab from one parent and a gene for normal adult hemoglobin (hemoglobin A) from the other parent.
curator note: Request inclusion into NCIT below "Hemoglobin Trait".
definition source: http://onlinelibrary.wiley.com/doi/10.1002/pbc.24414/pdf
existence in other ontologies: Few but definitions not freely available
hasExactSynonym: Hb A/O-Arab
hasExactSynonym: Hb AO-Arab
hasExactSynonym: Heterozygous Hb O-Arab
hasExactSynonym: Heterozygous Hemoglobin O-Arab

Hemoglobin Profile
type: Class
subclass of: Hemoglobin Measurement
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Hemoglobin Profile Assay
definition: The type and relative amounts of various normal and abnormal hemoglobin types.
curator note: Request inclusion into relevant ontology.
definition source: http://labtestsonline.org/understanding/analytes/sickle/tab/test/
existence in other ontologies: None
creator: SCDO

Hemoglobin Profile Assay
type: Class
subclass of: Blood Test
subclass of: Restriction
  on property: has essential measure
  some values from: Complete Blood Count
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: has essential measure
  some values from: Medication Inventory
subclass of: Restriction
  on property: has essential measure
  some values from: SCDO_1000342
definition: A bioassay that measures and identifies the different types of hemoglobin in the bloodstream. It can be used to identify and characterize the different variants in structure and synthesis of hemoglobin that cause sickle cell disease.
definition source: https://www.phenxtoolkit.org/protocols/view/830301
has protocol: PhenX protocol: Hemoglobin Characterization #830301
existence in other ontologies: Sufficient
previous identifier: SCDO:0000547
database cross reference: phenX:830301
hasExactSynonym: Haemoglobin Characterization
hasExactSynonym: Haemoglobinopathy Screen
hasExactSynonym: Hb Electrophoresis Plus Solubility
hasExactSynonym: Hemoglobin Characterization
hasExactSynonym: Hemoglobin Electrophoresis
hasExactSynonym: Hemoglobin Electrophoresis plus Solubility
hasExactSynonym: Hemoglobin Fractionation
hasExactSynonym: Hemoglobinopathy Evaluation
hasExactSynonym: Hemoglobinopathy Evaluation Profile Blood Test
hasExactSynonym: Hemoglobinopathy Fractionation Profile Blood Test
hasExactSynonym: Hemoglobinopathy Screen

Hemoglobin S Test
type: Class
subclass of: Hemoglobin Variant Test
definition: A test to quantify the presence of hemoglobin S in the blood and therefore determine whether a person has sickle cell trait or sickle cell disease.
curator note: In SNOMED CT this term is "Sickle cell identification". Request inclusion into relevant ontology.
definition source: http://www.questdiagnostics.com/testcenter/TestDetail.action
existence in other ontologies: Few but definitions not freely available
creator: SCDO (Clair Ingram)
hasExactSynonym: Hemoglobin S Measurement
hasExactSynonym: Sickle Cell Identification

Thalassemia Trait
type: Class
subclass of: Hemoglobin Trait
definition: The inheritance of one of the faulty genes that causes thalassemia.
curator note: Request inclusion into relevant ontology
definition source: carriers
existence in other ontologies: Few but definitions not freely available
creator: SCDO (Jade Hotchkiss)

Hemoglobinopathy
type: Class
subclass of: SCDO
definition: An inherited disorder of the structure and/or synthesis of hemoglobin, with a variable phenotype expression ranging from benign to severe.
curator note: Suggest update to description in NCIT
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Suggest update to description
database cross reference: NCIT:C3092

obsolete Hemoglobinopathy Toms River
type: Class
subclass of: from phenotype
definition: Hemoglobinopathy Toms River, is also known as transient neonatal cyanosis and anemia due to toms river hemoglobin. An important gene associated with Hemoglobinopathy Toms River is HBG2 (Hemoglobin Subunit Gamma 2.
hasExactSynonym: Anemia due to Toms River Hemoglobin
hasExactSynonym: Transient Neonatal Cyanosis
deprecated: true

Hepatic Span
type: Class
subclass of: Body Morphological Measurement
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Palpation of Liver
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Percussion of Liver
definition: The distance between the lower border of the liver in the mid-clavicular line, and the upper border of the liver in the mid-clavicular line.
curator note: The description needs to be reviewed by an expert. Request inclusion into Clinical Measurement Ontology, below "liver size measurement".
definition source: http://en.wikipedia.org/wiki/Liver_span
existence in other ontologies: None
hasExactSynonym: Liver Span

obsolete Hepatitis B Test
type: Class
subclass of: from diagnostics
definition: A test for Hepatitis B Virus.
curator note: Which Hepatitis B Test is to be referred to here? (There are various different types below "Immunology Test" in the "Sage Bionetworks Synapse Ontology")
hasExactSynonym: HBV Test
hasExactSynonym: Hepatitis B Virus Test
deprecated: true

obsolete Hepatitis C Test
type: Class
subclass of: from diagnostics
definition: A test for Hepatitis C Virus.
curator note: Is this test for viral load measurement or or antibody measurement? (See terms below "Immunology Test" in the "Sage Bionetworks Synapse Ontology")
deprecated: true

Hereditary Methemoglobinemia
type: Class
subclass of: Methemoglobinemia
definition: A rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2).
definition source: http://www.orpha.net/consor/cgi-bin/Disease_Search.php
existence in other ontologies: Sufficient
previous identifier: SCDO:0000559
database cross reference: ORPHA:621
hasExactSynonym: Congenital Methemoglobinemia
hasExactSynonym: HM
hasExactSynonym: Hereditary MetHb

Hip Replacement Arthroplasty
type: Class
subclass of: Supportive Therapeutics
subclass of: Symptomatic Therapeutics
definition: Replacement of the hip joint.
definition source: http://purl.bioontology.org/ontology/MESH/D019644
existence in other ontologies: Sufficient
previous identifier: SCDO:0000564
database cross reference: MESH:D019644
hasExactSynonym: Hip Prosthesis Implantation
hasExactSynonym: Hip Replacement Arthroplasty
hasExactSynonym: Hip Replacements, Total
hasExactSynonym: Replacement Arthroplasties, Hip
hasExactSynonym: Total Hip Replacement

Historically Controlled Study
type: Class
subclass of: Epidemiologic Studies
definition: A study that compares a group of participants receiving an intervention with a similar group from the past who did not.
definition source: http://purl.bioontology.org/ontology/MESH/D065386
existence in other ontologies: Sufficient
previous identifier: SCDO:0000565
database cross reference: MESH:D065386

History of Head Trauma Diagnostic Instrument
type: Class
subclass of: Clinical or Research Assessment Questionnaire
subclass of: Diagnostic Instrument
definition: A questionnaire to determine whether an individual has had a traumatic brain injury (TBI).
curator note: Suggest update to label as we have done. We are using "History of Head Trauma" below Personal Attribute.
definition source: http://bioportal.bioontology.org/ontologies/PHENX
has protocol: PhenX protocol: History of Head Trauma #130601
existence in other ontologies: Suggest update to label
database cross reference: phenX:130600
hasExactSynonym: History of Head Trauma Questionnaire

History of Kidney Failure Diagnostic Instrument
type: Class
subclass of: Clinical or Research Assessment Questionnaire
subclass of: Diagnostic Instrument
subclass of: Restriction
  on property: has essential measure
  some values from: Blood Pressure Measurement
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: has essential measure
  some values from: History of Type I and Type 2 Diabetes Diagnostic Instrument
definition: A questionnaire to determine if the respondent has a history of kidney failure.
curator note: Link to? -- Kidney Failure -- Personal Attribute---> Personal medical history --> History of Kidney Failure
curator note: Suggest update to label as we have done. We are using "History of Kidney Failure" below Personal Attribute.
definition source: https://www.phenxtoolkit.org/protocols/view/140601
has protocol: PhenX protocol: Personal History of Kidney Failure #140601
existence in other ontologies: Suggest update to label
database cross reference: phenX:140600
hasExactSynonym: History of Kidney Failure Questionnaire

History of Stroke - Ischemic Infarction and Hemorrhage - Diagnostic Instrument
type: Class
subclass of: Clinical or Research Assessment Questionnaire
subclass of: Diagnostic Instrument
definition: A questionnaire to determine if the respondent has had an ischemic infarction (i.e. stroke) and/or any symptoms related to this event.
curator note: Suggest update to label as we have done. We are using "History of Stroke" below Personal Attribute.
definition source: http://bioportal.bioontology.org/ontologies/PHENX
has protocol: PhenX protocol: History of Stroke - Ischemic Infarction and Hemorrhage #130301
existence in other ontologies: Suggest update to label
database cross reference: phenX:130300
hasExactSynonym: History of Stroke - Ischemic Infarction and Hemorrhage - Questionnaire

History of Type I and Type 2 Diabetes Diagnostic Instrument
type: Class
subclass of: Clinical or Research Assessment Questionnaire
subclass of: Diagnostic Instrument
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: has essential measure
  some values from: Reproductive History Diagnostic Instrument
definition: A questionnaire to determine a respondent's history of type 1 or type 2 diabetes.
curator note: Link to? -- Personal Attribute---> Personal medical history --> History of Type I and Type 2 Diabetes
curator note: Suggest update to label as we have done. We are using "History of Type I and Type 2 Diabetes" below Personal Attribute.
definition source: http://bioportal.bioontology.org/ontologies/PHENX
has protocol: PhenX protocol: Personal History of Type 1 and Type 2 Diabetes #140501
existence in other ontologies: Suggest update to label
database cross reference: phenX:140500

HIV Test
type: Class
subclass of: Blood Test
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: A bioassay to measure human immunodeficiency virus (HIV) antibodies and/or HIV antigens in order to determine whether an individual has an HIV infection.
curator note: Also below "Immunochemical Assay"?
definition source: hiv-testing
definition source: https://www.phenxtoolkit.org/protocols/view/160901
existence in other ontologies: Few but definitions not freely available
hasExactSynonym: HIV Assay
hasExactSynonym: Human Immunodeficiency Virus Assay
hasExactSynonym: Human Immunodeficiency Virus Test

Hospital Anxiety and Depression Scale (HADS)
type: Class
subclass of: Quality of Life and Care Measure
subclass of: SCDO_1000297
definition: The HADS consists of 2 subscales each with 7 items for measuring anxiety, and 7 items for depression rated from 0 - 3. Anxiety and depression scores are obtained by adding up the ratings of the items on each subscale. A score above 8 in any of the subscales indicates that the patient has experienced clinically significant anxiety or depression over the past week.
definition source: Zigmond A.S. and Snaith R.P. (1983). The hospital anxiety and depression scale. Acta Psychiatry Scandinavia, 67, 361-370. Anie, K.A.; Green, J.; Tata, P.; Fotopoulos, C. E.; Oni, L. and Davies, S. C. (2002) Self-help manual-assisted cognitive behavioural therapy for sickle cell disease. Behavioural and Cognitive Psychotherapies, 30, 451-458
has cross-cultural adaptation: multiple
has respondents: Patient Reported Outcome
has target population: Clinic Patients
selection criteria met: Widely used around the world, also used in SCD
validated for age ranges: Adults (18 to 91 years)
existence in other ontologies: Few but definitions not specific enough
dc:source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C103520
hasExactSynonym: HADS
hasExactSynonym: HADS Questionnaire
hasExactSynonym: HADS01
hasExactSynonym: Hospital Anxiety and Depression Scale
hasExactSynonym: Hospital Anxiety and Depression Scale Questionnaire
hasExactSynonym: Hospital Anxiety and Depression Scale Questionnaire (HADS)

Hospitalization
type: Class
subclass of: Health Service Utilization
definition: The confinement of a patient in a hospital.
curator note: Perhaps "Hospital Utilization" would be better here?
definition source: http://purl.bioontology.org/ontology/MESH/D006760
existence in other ontologies: Sufficient
previous identifier: SCDO:0000573
database cross reference: MESH:D006760
hasExactSynonym: Hospital Admission
hasExactSynonym: Hospitalisation
hasExactSynonym: Hospitalisations
hasExactSynonym: Hospitalizations

Household Roster-Relationships
type: Class
subclass of: Demographic Factor
subclass of: Socioeconomic Factors
subclass of: Quality of Life Related Personal Attribute
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: has essential measure
  some values from: Current Marital Status
definition: A record of those living in the respondent's household and about his or her relationship with them.
curator note: Request inclusion into MESH below "Social Conditions"?
definition source: https://www.phenxtoolkit.org/protocols/view/11402
has protocol: PhenX protocol: Household Roster-Relationships #11402
existence in other ontologies: Negligable
database cross reference: phenX:11400

Hydration Therapy
type: Class
subclass of: Lifestyle Therapy
subclass of: Preventative Therapeutics
subclass of: Restriction
  on property: treats
  some values from: Acute Chest Syndrome
subclass of: Restriction
  on property: treats
  some values from: Diabetic Ketoacidosis
subclass of: Restriction
  on property: treats
  some values from: Non-specific Acute Lower Respiratory Tract Episode
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A unique treatment that administers electrolyte-packed IV fluids directly into a patient's bloodstream. Depending on the patient's needs, the fluid may be enhanced with additives such as calcium, magnesium sulfate or a Vitamin B complex. It is a far more efficient method of absorption when compared to the traditional method of drinking liquids/electrolytes.
curator note: Suggest update to description in NCIT (currently no description)
definition source: what-is-hydration-therapy
existence in other ontologies: Suggest update to description
dc:source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C66896

Hydroxyurea
type: Class
subclass of: Drug
subclass of: Preventative Therapeutics
subclass of: Restriction
  on property: modifies
  some values from: Clinical Phenotype of Beta Thalassemia
subclass of: Restriction
  on property: modifies
  some values from: Phenotype of Sickle Cell Disease
subclass of: Restriction
  on property: modifies
  some values from: SCDO_1000707
subclass of: Restriction
  on property: treats
  some values from: Acute Chest Syndrome
subclass of: Restriction
  on property: treats
  some values from: Severe Anemia
subclass of: Restriction
  on property: treats
  some values from: Nephropathy
subclass of: Restriction
  on property: treats
  some values from: Hereditary Persistence of Fetal Hemoglobin
subclass of: Restriction
  on property: treats
  some values from: Sickle Cell Disease-SD
subclass of: Restriction
  on property: treats
  some values from: Sickle Cell Chronic Lung Disease
subclass of: Restriction
  on property: treats
  some values from: Hemoglobin C Disease
subclass of: Restriction
  on property: treats
  some values from: Hemoglobin E Disease
subclass of: Restriction
  on property: treats
  some values from: Recurrent Wheeze in Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: An antineoplastic agent that inhibits DNA synthesis through the inhibition of ribonucleoside diphosphate reductase.
definition source: D006918
existence in other ontologies: Sufficient
previous identifier: SCDO:0000580
database cross reference: MESH:D006918
hasExactSynonym: Hydrea
hasExactSynonym: Hydroxycarbamide
hasExactSynonym: Oncocarbide

Hydroxyurea-Induced Adverse Event
type: Class
subclass of: Causal Adverse Drug Event
subclass of: Restriction
  on property: induced by
  some values from: Hydroxyurea
definition: A causal adverse drug event that is induced by hydroxyurea.
curator note: Request inclusion into OAE below "Causal Adverse Drug Event".
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Hydroxyurea-Induced Cutaneous Adverse Event
type: Class
subclass of: Hydroxyurea-Induced Adverse Event
subclass of: Restriction
  on property: induced by
  some values from: Hydroxyurea
definition: A hydroxyurea-induced adverse event that has an outcome relating to or affecting the skin.
curator note: Request inclusion into OAE below "Hydroxyurea-Induced Adverse Event" (also suggested by us for inclusion). Or Obsolete and use an object property (has adverse events) to link Hydroxyea to Cutaneous.
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Hydroxyurea-Induced Splenomegaly Adverse Event
type: Class
subclass of: Hydroxyurea-Induced Adverse Event
subclass of: Restriction
  on property: induced by
  some values from: Hydroxyurea
definition: A hydroxyurea-induced adverse event that has the outcome of splenomegaly.
curator note: Request inclusion into OAE below "Hydroxyurea-Induced Adverse Event" (also suggested by us for inclusion). Or Delete and use an object property (has adverse events) to link Hydroxyea to Splenomegaly.
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Hyperkalemia
type: Class
subclass of: Abnormality of Metabolism/Homeostasis
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Abnormally high potassium concentration in the blood, most often due to defective renal excretion. It is characterized clinically by electrocardiographic abnormalities (elevated T waves and depressed P waves, and eventually by atrial asystole). In severe cases, weakness and flaccid paralysis may occur. (Dorland, 27th ed).
definition source: http://purl.bioontology.org/ontology/MESH/D006947
existence in other ontologies: Sufficient
previous identifier: SCDO:0000588
database cross reference: MESH:D006947
hasExactSynonym: High Blood Potassium Levels
hasExactSynonym: Hyperkalemias
hasExactSynonym: Hyperpotassemia
hasExactSynonym: Hyperpotassemias

Hyperpigmentation
type: Class
subclass of: Abnormality of Skin Morphology
definition: Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance.
definition source: D017495
existence in other ontologies: Sufficient
previous identifier: SCDO:0000593
database cross reference: MESH:D017495
hasExactSynonym: Hypermelanoses
hasExactSynonym: Hypermelanosis
hasExactSynonym: Hyperpigmentation of the skin
hasExactSynonym: Skin Hyperpigmentation

Hypnotics and Sedatives
type: Class
subclass of: Drug
subclass of: Supportive Therapeutics
definition: Drugs used to induce drowsiness or sleep or to reduce psychological excitement or anxiety.
definition source: http://purl.bioontology.org/ontology/MESH/D006993
existence in other ontologies: Sufficient
previous identifier: SCDO:0000598
database cross reference: MESH:D006993
hasExactSynonym: Hypnotics
hasExactSynonym: Sedatives
hasExactSynonym: Sedatives and Hypnotics

ICD-10-CM Diagnosis Codes
type: Class
subclass of: Clinical Coding
definition: The ICD-10-CM diagnosis classification system developed by the Centers for Disease Control and Prevention for use in all U.S. health care treatment settings. Diagnosis coding under this system uses a different number of digits and some other changes, but the format is very much the same as ICD-9-CM. The National Center for Health Statistics (NCHS), the Federal agency responsible for use of the International Statistical Classification of Diseases and Related Health Problems, 10th revision (ICD-10) in the United States, has developed a clinical modification of the classification for morbidity purposes. The ICD-10 is used to code and classify mortality data from death certificates, having replaced ICD-9 for this purpose as of January 1, 1999. ICD-10-CM is the replacement for ICD-9-CM, volumes 1 and 2, effective October 1, 2015.
curator note: Request inclusion into relevant ontology, perhaps below "Clinical Coding" in MESH.
definition source: https://www.cdc.gov/nchs/icd/icd10cm.htm
definition source: https://www.findacode.com/icd-10-cm/icd-10-cm-diagnosis-codes-set.html
existence in other ontologies: None

Illness Perception Questionnaire Revised (IPQ-R)
type: Class
subclass of: Quality of Life and Care Measure
definition: The IPQ-R is an 84-item self-completed instrument developed to provide a quantitative measurement of the components of illness representations, as described by Leventhal's Common-Sense Model (CSM) of selfregulation it is divided into 3 sections: identity subscale (14 symptoms), causal subscale (18 causes), and a third section which contains 7 subscales, including consequences, timeline acute/chronic and cyclical, personal and treatment control/cure, illness coherence, and emotional representations. The questionnaire wording can be adapted to the specific illness by replacing the word illness with the name of the condition. For the identity subscale, respondents are asked if they have experienced a number of symptoms since their illness, and if they feel the symptoms are related to their current illness. Response is by circling 'yes' or 'no' to each question. Responses are then summed to give an overall score. For the causal subscale, respondents are asked what they perceive to be the cause of their illness and are asked to respond to each of the listed causes using a 5-point Likert style scale, ranging from strongly disagree to strongly agree. Respondents are also asked to rank the 3 most important factors believed to be the cause of their illness. The third section (7 subscales) is scored by summing responses to each item is on a 5-point Likert style scale, ranging from strongly disagree to strongly agree. All items for each of the subscales are summed to give an overall score. High scores on the identity, consequences, timeline acute/chronic and cyclical subscales represent strongly held beliefs about the number of symptoms attributed, the negative consequences, and the chronicity and cyclical nature of the illness. High scores on the personal and treatment control and coherence subscales represent positive beliefs about controllability and a personal understanding of the illness.
curator note: Request inclusion into NCIT below "Research or Clinical Assessment Tool".
definition source: Moss-Morris R, Weinman J, Petrie KJ, Horne R, Cameron LD, Buick D (2002). The Revised Illness Perception Questionnaire (IPQ-R). Psychol Health 17:1-16.
has cross-cultural adaptation: multiple
has respondents: Patient Reported Outcome
has target population: Clinic Patients
has translations: many
selection criteria met: Good psychometric properties, widely used around the world, has been translated into several languages.
validated for age ranges: Adults
existence in other ontologies: None
dc:source: Moss-Morris R, Weinman J, Petrie KJ, Horne R, Cameron LD, Buick D (2002). The Revised Illness Perception Questionnaire (IPQ-R). Psychol Health 17:1-16.
hasExactSynonym: IPQ-R
hasExactSynonym: Illness Perception Questionnaire Revised

deprecated Immune System
type: Class
subclass of: obsolete Hemic and Immune Systems
definition: The body's defense mechanism against foreign organisms or substances and deviant native cells. It includes the humoral immune response and the cell-mediated response and consists of a complex of interrelated cellular, molecular, and genetic components.
term replaced by: SCDO_1000273
definition source: http://purl.bioontology.org/ontology/MESH/D007107
database cross reference: MESH:D007107
deprecated: true

Immunochemical Assay
type: Class
subclass of: Immunological Assay
definition: An assay that identifies a substance (especially a protein) by its action as an antigen.
curator note: Request inclusion into relevant ontology
definition source: immunochemical+assay
existence in other ontologies: None

Immunosuppressant Drug Level Decreased AE
type: Class
subclass of: Adverse Drug Event
definition: A drug adverse event that has an outcome of decreased levels of immunosuppressant drugs in the patient's body.
definition source: http://purl.obolibrary.org/obo/OAE_0001071
existence in other ontologies: Sufficient
previous identifier: SCDO:0000618
database cross reference: OAE:0001071

Immunoturbidimetry Assay
type: Class
subclass of: Immunological Assay
definition: An assay that employs immunoturbidimetry, a method that measures the absorbance of light from a sample which is used for quantifying an amount of analyte based on the level of turbidity produced by the formation and precipitation of an immune complex containing the analyte.
curator note: Request inclusion into relevant ontology. NCIT contains "Immunoturbidimetry", but not "Immunoturbidimetry Assay". Do we rather want to have this term as "Immunoturbidimetry"?
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: None
hasExactSynonym: Immunoturbidimetry Test

Insect Repellents
type: Class
subclass of: Malaria Prophylaxis
definition: Substances causing insects to turn away from them or reject them as food.
definition source: http://purl.bioontology.org/ontology/MESH/D007302
existence in other ontologies: Sufficient
previous identifier: SCDO:0000643
database cross reference: MESH:D007302

Intelligence Scale - Birth to 3.5 years
type: Class
subclass of: Intelligence Scale
definition: A standardized tool designed to assess a child's development as compared to same-age peers. It has components that involve both direct observation and interaction with a child as well as caregiver questionnaires. It consists of five domains (cognitive, motor, language, social-emotional, and adaptive behavior).
curator note: Life stage: Infant, Toddler, Child
curator note: Suggest update to description in NCIT (we're not using their description, but their description says "from one to twenty-four months of age")
curator note: The Sickle Cell Disease Neurology, Quality of Life, and Health Services Working Group recognizes that there is an age overlap between the Bayley-III and the Wechsler Preschool and Primary Scale of Intelligence-Fourth Edition (WPPSI - IV). The Working Group recommends that providers use their clinical judgment, consider the purpose of testing participants, and refer to the frequently asked questions section of the Pearson website for Bayley-III and the WPPSI-IV for guidance on selecting an age-appropriate test.
definition source: http://www.phenxtoolkit.org/index.php
has protocol: PhenX protocol: Intelligence Scale - Birth to 3.5 years #820504
existence in other ontologies: Suggest update to description
database cross reference: NCIT:C99150
hasExactSynonym: Bayley Scale of Infant Development III
hasExactSynonym: Bayley Scales of Infant and Toddler Development, Third Edition
hasExactSynonym: Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III)
hasExactSynonym: Bayley-III

Intentional Drug Misuse AE
type: Class
subclass of: Adverse Drug Event
definition: An adverse drug event that results in the intentional use of a drug in the wrong way (recreationally etc).
definition source: http://purl.obolibrary.org/obo/OAE_0001093
existence in other ontologies: Sufficient
previous identifier: SCDO:0000650
database cross reference: OAE:0001093

Interrupted Time Series Analysis
type: Class
subclass of: Epidemiologic Studies
definition: A study that uses observations at multiple time points before and after an intervention (the interruption), in an attempt to detect whether the intervention has had an effect significantly greater than any underlying trend over time.
definition source: http://purl.bioontology.org/ontology/MESH/D065186
existence in other ontologies: Sufficient
previous identifier: SCDO:0000651
database cross reference: MESH:D065186
hasExactSynonym: ITS Studies

deprecated-Intracerebral Haemorrhage
type: Class
subclass of: from phenotype
definition: Intracerebral hemorrhage (ICH) is when blood suddenly bursts into brain tissue, causing damage to the brain.
term replaced by: SCDO_0000209
curator note: Should this term be merged with "Cerebral Hemorrhage" and "Intracerebral Haemorrhage" made a synonym of "Cerebral Hemorrhage"? -- -- Specify description source and source for additional info.
hasExactSynonym: Intracerebral Bleeding
deprecated: true

Intracranial Hypotension
type: Class
subclass of: Abnormal Nervous System Physiology
subclass of: Restriction
  on property: treated with
  some values from: Surgery
definition: CSF pressure less than 6 cm of H2O in patients with clinical presentation compatible with intracranial hypotension, which are postural headache, nausea, vomiting, neck pain, visual and hearing disturbances, and vertigo. It most commonly results from CSF leaks somewhere along the neuraxis.
curator note: Suggest update to description in DOID (currently no description)
definition source: intracranial-hypotension-1
has age of onset: Spontaneous intracranial hypotension is typically encountered in middle age (30-50 years of age) and has a predilection for women (F:M 2:1). Of interest, this is a similar demographic to pseudotumour cerebri, which is believed to be an unrecognised predisposing factor. Epidemiology of secondary intracranial hypotension is variable and matches that of the underlying cause.
has disease stage: Intracranial hypotension can broadly be divided into: 1.Primary: usually referred to as spontaneous intracranial hypotension. 2. Secondary: iatrogenic (LP or surgery), over shunting due to diversion devices or traumatic.
is characterised by: Generally, there are no localising symptoms forms directly from the leak, as CSF is absorbed into tissues. The condition often presents as a positional headache which is relieved by a recumbent position, usually within 15-30min. It is confirmed by assessing opening pressure on LP (less than 7 cm CSF). Note that when this is done fluoroscopically, it should be performed in a lateral position to allow for accurate measurement of pressure. Occasionally presentation is more sinister, with even decreased level of consciousness and coma reported.
existence in other ontologies: Suggest update to description
dc:source: intracranial-hypotension-1
database cross reference: DOID:4723
hasExactSynonym: Craniospinal Hypotension
hasExactSynonym: Decreased Intracranial Pressure

Intraosseous Pressure
type: Class
subclass of: Diagnostic Measurement
subclass of: Restriction
  on property: output of diagnostic device
  some values from: Manometer
definition: The hydrostatic pressure of venous blood in the marrow of bones.
curator note: Term should be requested for inclusion into the "Ontology of Biological Attributes", perhaps in an appropriate location under "organ system trait". Or perhaps below "bone measurement" or "bone marrow measurement" in the CMO?
definition source: http://medical-dictionary.thefreedictionary.com/intraosseous
definition source: http://www.ncbi.nlm.nih.gov/pubmed/6456552
existence in other ontologies: None
hasExactSynonym: IOP

Ischemia
type: Class
subclass of: Abnormality of Cardiovascular System
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A hypoperfusion of the blood through an organ or tissue caused by a pathologic constriction or obstruction of its blood vessels, or an absence of blood circulation.
curator note: Should this be under "Abnormal Cardiovascular System Morphology" or ""Abnormal Cardiovascular System Physiology"?
definition source: http://purl.bioontology.org/ontology/MESH/D007511
existence in other ontologies: Sufficient
previous identifier: SCDO:0000665
database cross reference: MESH:D007511
hasExactSynonym: Ischemias

Isoelectric Focusing
type: Class
subclass of: Electrophoresis
subclass of: SCDO_1000577
definition: Electrophoresis in which a pH gradient is established in a gel medium and proteins migrate until they reach the site (or focus) at which the pH is equal to their isoelectric point.
curator note: Perhaps change label to "Hemoglobin Isoeletcric Focusing"? Exactsynonym "Hb IEF". See dc:source provided.
definition source: http://purl.bioontology.org/ontology/MESH/D007525
existence in other ontologies: Sufficient
previous identifier: SCDO:0000666
dc:source: test
database cross reference: MESH:D007525
hasExactSynonym: Electrofocusing
hasExactSynonym: IEF

Kidney Function Test
type: Class
subclass of: Physiological Assay
definition: Laboratory tests used to evaluate how well the kidneys are working through examination of blood and urine.
definition source: http://purl.bioontology.org/ontology/MESH/D007677
existence in other ontologies: Sufficient
previous identifier: SCDO:0000676
database cross reference: MESH:D007677
hasExactSynonym: Kidney Function Tests
hasExactSynonym: Renal Function Test
hasExactSynonym: Renal Function Tests

Kinesiotherapy
type: Class
subclass of: Rehabilitation
definition: A specialized area of medicine in which exercise and movement are used as the primary form of rehabilitation.
curator note: Request inclusion into relevant ontology
definition source: http://medical-dictionary.thefreedictionary.com/kinesiotherapy
existence in other ontologies: Few but definitions not freely available
creator: SCDO (Jade Hotchkiss)

Knowledge about Sickle Cell Disease
type: Class
subclass of: Clinical Competence
definition: Collections of facts, assumptions, beliefs and practices that health professionals hold about the aetiology, pathophysiology, quality management of SCD and related social support systems based on global standards.
curator note: Probably too specific to SCD to be included in other ontologies.
definition source: https://www.ncbi.nlm.nih.gov/mesh/
definition source: https://www.ncbi.nlm.nih.gov/pubmed/20353928
existence in other ontologies: None
creator: SCDO

Lactate Dehydrogenase Level
type: Class
subclass of: Blood Chemistry Measurement
subclass of: Restriction
  on property: has essential measure
  some values from: Ethnic Group
subclass of: Restriction
  on property: has essential measure
  some values from: Race
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Lactate Dehydrogenase Test
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Venipuncture
subclass of: Restriction
  on property: has possible finding
  some values from: Increased Lactate Dehydrogenase Level
subclass of: Restriction
  on property: has possible finding
  some values from: SCDO_1000684
subclass of: Restriction
  on property: has possible finding
  some values from: SCDO_1000833
definition: The level of lactate dehydrogenase, an enzyme released during tissue damage and injury, found in a specified biological specimen.
curator note: Request inclusion into relevant ontology Should this term's name be changed to "L-Lactate Dehydrogenase Level"?
existence in other ontologies: Few but definitions not freely available
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: LD Level
hasExactSynonym: LDH Level
hasExactSynonym: Lactate Dehydrogenase Levels
hasExactSynonym: Lactic Acid Dehydrogenase Level
comment: Normal and abnormal ranges given here: https://www.healthline.com/health/lactate-dehydrogenase-test#results

Lactate Dehydrogenase Test
type: Class
subclass of: Blood Test
subclass of: Restriction
  on property: has essential measure
  some values from: Ethnic Group
subclass of: Restriction
  on property: has essential measure
  some values from: Race
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: measures
  some values from: Lactate Dehydrogenase Level
definition: A bioassay to measure levels of lactate dehydrogenase, an enzyme released during tissue damage and injury.
curator note: Suggest update to label in PhenX (from "Lactate Dehydrogenase Level").
definition source: https://www.phenxtoolkit.org/protocols/view/811001
existence in other ontologies: Suggest update to label
database cross reference: phenX:811001
hasExactSynonym: LDH Test
hasExactSynonym: Lactate Dehydrogenase Level Test
hasExactSynonym: Lactic Acid Dehydrogenase Test

Leg Ulcer
type: Class
subclass of: Skin Ulcer
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Ulceration of the skin and underlying structures of the lower extremity. About 90% of the cases are due to venous insufficiency (varicose ulcer), 5% to arterial disease, and the remaining 5% to other causes.
definition source: http://purl.bioontology.org/ontology/MESH/D007871
existence in other ontologies: Sufficient
previous identifier: SCDO:0000685
database cross reference: MESH:D007871
hasExactSynonym: Leg Ulcers

Lifestyle
type: Class
subclass of: Health Behaviour
definition: Typical way of life or manner of living characteristic of an individual or group. (From APA, Thesaurus of Psychological Index Terms, 8th ed).
definition source: http://purl.bioontology.org/ontology/MESH/D008019
existence in other ontologies: Sufficient
previous identifier: SCDO:0000689
database cross reference: MESH:D008019
hasExactSynonym: Life Style

Light Coagulation
type: Class
subclass of: Ophthalmologic Surgical Procedure
definition: The coagulation of tissue by an intense beam of light, including laser (laser coagulation). In the eye it is used in the treatment of retinal detachments, retinal holes, aneurysms, hemorrhages, and malignant and benign neoplasms. (Dictionary of Visual Science, 3d ed)
definition source: http://purl.bioontology.org/ontology/MESH/D008028
existence in other ontologies: Sufficient
previous identifier: SCDO:0000691
database cross reference: MESH:D008028
hasExactSynonym: Light Coagulations
hasExactSynonym: Photocoagulation
hasExactSynonym: Photocoagulations

Liver Examination
type: Class
subclass of: Physical Examination
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: Any process carried out to determine the condition of a patient's liver.
definition source: http://bioportal.bioontology.org/ontologies/IDODEN
existence in other ontologies: Sufficient
previous identifier: SCDO:0000694
database cross reference: IDODEN:0003652

Locus of Control
type: Class
subclass of: Health Beliefs
definition: Personality construct referring to an individual's perception of the locus of events as determined internally by his or her own behaviour versus fate, luck, or external forces.
definition source: http://purl.bioontology.org/ontology/MESH/D007389
existence in other ontologies: Sufficient
previous identifier: SCDO:0000698
database cross reference: MESH:D007389
hasExactSynonym: Control Locus
hasExactSynonym: External-Internal Control
hasExactSynonym: Health Locus of Control
hasExactSynonym: Internal-External Control
hasExactSynonym: Sense of Control

Longitudinal Studies
type: Class
subclass of: Epidemiologic Studies
definition: Studies in which variables relating to an individual or group of individuals are assessed over a period of time.
definition source: http://purl.bioontology.org/ontology/MESH/D008137
existence in other ontologies: Sufficient
previous identifier: SCDO:0000699
database cross reference: MESH:D008137
hasExactSynonym: Heart Study, Jackson

Lot Quality Assurance Sampling
type: Class
subclass of: Epidemiologic Study Characteristics
definition: A sampling methodology using small sample sizes when conducting surveys in small geographical or population-based areas or lots.
definition source: http://purl.bioontology.org/ontology/MESH/D055810
existence in other ontologies: Sufficient
previous identifier: SCDO:0000702
database cross reference: MESH:D055810
hasExactSynonym: LQAS

Lung Volume Measurement
type: Class
subclass of: Respiratory System Measurement
subclass of: Restriction
  on property: has essential measure
  some values from: Ethnic Group
subclass of: Restriction
  on property: has essential measure
  some values from: Race
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Body Height
subclass of: Restriction
  on property: has essential measure
  some values from: Body Weight
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Spirometry
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Lung Volume Test
subclass of: Restriction
  on property: output of diagnostic device
  some values from: Spirometer
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: Measurement of the amount of air that the lungs may contain at various points in the respiratory cycle.
curator note: Perhaps use the "DEFINITIONS AND SUBDIVISIONS OF LUNG VOLUME" section in the "Lung Function - Lung Volume #810401" protocol source in PhenX to include types of lung volume as subclasses. Can also use subclasses of Experimental Factor Ontology -- (EFO) term "pulmonary function measurement or sub-classes of "Lung Volume Measurements" in MESH.
definition source: http://purl.bioontology.org/ontology/MESH/D008176
existence in other ontologies: Sufficient
previous identifier: SCDO:0000704
database cross reference: MESH:D008176
hasExactSynonym: Lung Capacities
hasExactSynonym: Lung Capacity
hasExactSynonym: Lung Volume
hasExactSynonym: Lung Volume Measurements

Lung Volume Test
type: Class
subclass of: Pulmonary Function Test
subclass of: Restriction
  on property: has essential measure
  some values from: Ethnic Group
subclass of: Restriction
  on property: has essential measure
  some values from: Race
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Body Height
subclass of: Restriction
  on property: has essential measure
  some values from: Body Weight
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: uses diagnostic device
  some values from: Spirometer
subclass of: Restriction
  on property: measures
  some values from: Lung Volume Measurement
definition: Clinical assessment to determine the volume of gas within an individual's lung.
curator note: Suggest update to label in PhenX (from "Lung Function - Lung Volume") Perhaps use the protocol source in PhenX to include different ways of measuring FRC (functional residual capacity) as subclasses (e.g. Measurement of FRC using body plethysmography, Measurement of FRC using nitrogen washout, Measurement of FRC using helium dilution, Measurement of lung volume using imaging techniques). SNOMED has more terms below "Lung Volume Test" Link to necessary medical device.
definition source: https://www.phenxtoolkit.org/protocols/view/810401
has protocol: PhenX protocol: Protocol - Lung Function - Lung Volume #810401
existence in other ontologies: Suggest update to label
database cross reference: phenX:810401
hasExactSynonym: Lung Function - Lung Volume
hasExactSynonym: Lung Volume Assay
hasExactSynonym: Pulmonary Volume Assay
hasExactSynonym: Pulmonary Volume Test

obsolete Lymphoid System
type: Class
subclass of: from phenotype
definition: 'The lymphatic system in vertebrates is a network of conduits that carry a clear fluid called lymph. It also includes the lymphoid tissue through which the lymph travels. Lymphoid tissue is found in many organs, particularly the lymph nodes, and in the lymphoid follicles associated with the digestive system such as the tonsils. The system also includes all the structures dedicated to the circulation and production of lymphocytes, which includes the spleen, thymus, bone marrow and the lymphoid tissue associated with the digestive system. [Curator team: []]'
definition source: http://purl.obolibrary.org/obo/UBERON_0002465
database cross reference: UBERON:0002465
deprecated: true

Malaria Prophylaxis
type: Class
subclass of: Infection Prophylaxis
subclass of: Restriction
  on property: treats
  some values from: Systemic Lupus Erythematosus
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
definition: The use of drugs or other agents to prevent malarial infection. Examples: Proguanil, mefloquine, artesunate, insect repellant, insecticide-treated-bednet.
curator note: Request inclusion into relevant ontology
definition source: http://www.cdc.gov/malaria/travelers/drugs.html
existence in other ontologies: Few but definitions not freely available
hasExactSynonym: Malaria Prevention

Manometer
type: Class
subclass of: Diagnostic Device
subclass of: Restriction
  on property: has output measurement
  some values from: Intraosseous Pressure
definition: An instrument that is used for measuring the pressure of liquids and gases.
curator note: Request inclusion into "Eagle-I Research Resource Ontology", below the "instrument" term. Perhaps the specific manometer used for measuring "Intraosseous Pressure" should be added as a sub-class and linked to directly.
definition source: The American Heritage Science Dictionary. Retrieved October 20, 2016 from Dictionary.com website
definition source: http://www.dictionary.com/browse/manometer
existence in other ontologies: Negligable

Marital Status of Primary Caregiver
type: Class
subclass of: Personal Attribute
subclass of: Socioeconomic Factors
subclass of: Quality of Life Related Personal Attribute
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: The current marital status of the respondent's caregiver (i.e. family member or another individual who takes primary responsibility for the respondent).
curator note: Request inclusion into MESH below "Family Characteristics".
definition source: https://www.phenxtoolkit.org/protocols/view/840101
has protocol: PhenX protocol: Marital Status of Primary Caregiver #840101
existence in other ontologies: Negligable
database cross reference: phenX:840101

Measure of Frequency of Sickle Cell Pain Episodes
type: Class
subclass of: Clinical or Research Assessment Questionnaire
subclass of: Quality of Life Measure
subclass of: Diagnostic Instrument
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: A questionnaire to capture the frequency of acute pain episodes within a defined time frame due to sickle cell disease (SCD). It includes three self-administered questions from the Cooperative Study of Sickle Cell Disease (CSSCD) that capture number of painful episodes that required visits to the emergency room or hospital or interfered with daily activities.
curator note: Suggest update to label in PhenX as we have done here because we have used "Frequency of Sickle Cell Pain Episodes Per Year" for the Diagnostic Instrument Measurement.
definition source: https://www.phenxtoolkit.org/protocols/view/830101
has protocol: PhenX protocol: Frequency of Sickle Cell Pain Episodes Per Year #830101
existence in other ontologies: Suggest update to label
database cross reference: phenX:830100

Measure of Sickle Cell Stigma (MoSCS)
type: Class
subclass of: Quality of Life and Care Measure
definition: Measure of disease specific stigma based on patient reported outcome measurements that assesses 4 MoSCS factors: Social exclusion, Internalized Stigma, Expected Discrimination and Disclosure concerns. Measure includes stigma scores; perceived disease severity, acute care service utilization, hospital admission levels. N=262.
curator note: Request inclusion into NCIT below "Research or Clinical Assessment Tool".
definition source: J Health Psychol. 2016 May; 21(5): 808–820.
has cross-cultural adaptation: African-Americans
has respondents: Patient Reported Outcome
has target population: Adults with Sickle Cell Disease
validated for age ranges: Adults 18 years and older
existence in other ontologies: None
dc:source: Bediako, Shawn M et al. “The Measure of Sickle Cell Stigma: Initial Findings from the Improving Patient Outcomes through Respect and Trust Study.” Journal of health psychology (2014): 1359105314539530. PMC. Web. 13 Mar. 2016. PMCID: PMC4627860
hasExactSynonym: Measure of Sickle Cell Stigma
hasExactSynonym: MoSCS

Measured Weight
type: Class
subclass of: Body Weight
definition: The weight of the participant in kilograms.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Diagnostic Measurement
type: Class
subclass of: Diagnostics
definition: An information entity used in the diagnosis of medical conditions. It could be the recording of the output of a diagnostic device or the outcome of a diagnostic tool.
curator note: Request inclusion into relevant ontology.
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Diagnostic Quantitative Measurement

Medical Outcomes Study (MOS) Social Support Survey
type: Class
subclass of: Quality of Life and Care Measure
definition: The MOS Social Support Survey is a self-administered questionnaire that includes 19 items across four functional support subscales: emotional/informational support (8 items), tangible/instrumental support (4 items), affectionate support (3 items), and positive social interaction (3 items). Each item is scored on a 5-point Likert style scale (1 = None of the Time; 5 = All of the Time) to indicate how often that type of support is available to them. A score for each social support subscale can be computed by averaging across the individual items or by adding scores individual items together. Higher scores indicate more support.
curator note: Check and show which source was used for the description and whether the description was adapted from the source.
curator note: Suggest update to description in NCIT for "Medical Outcomes Study Social Support Survey".
definition source: Sherbourne CD, Stewart A. The MOS Social Support Survey. Social Science and Medicine, v. 32, 1991, pp. 705-714.
definition source: Sherbourne, Cathy D. and Anita Stewart. The MOS Social Support Survey. Santa Monica, CA: RAND Corporation, 1993.
has cross-cultural adaptation: Multiple countries and cultural groups
has respondents: Self
has target population: Clinic patients
validated for age ranges: Adults 18 years and older
freely available: no
existence in other ontologies: Suggest update to description
dc:source: http://bioportal.bioontology.org/ontologies/NCIT/
dc:source: RP218.html
database cross reference: NCIT:C110969
hasExactSynonym: MOS Social Support Survey
hasExactSynonym: Medical Outcomes Study Social Support Survey

Medical Records
type: Class
subclass of: Quality of Health Care
definition: Recording of pertinent information concerning patient's illness or illnesses.
definition source: http://purl.bioontology.org/ontology/MESH/D008499
existence in other ontologies: Sufficient
previous identifier: SCDO:0000738
database cross reference: MESH:D008499

Medication Adherence
type: Class
subclass of: Patient Compliance
definition: Voluntary cooperation of the patient in taking drugs or medicine as prescribed. This includes timing, dosage, and frequency.
definition source: http://purl.bioontology.org/ontology/MESH/D055118
existence in other ontologies: Sufficient
previous identifier: SCDO:0000739
database cross reference: MESH:D055118

Medication Inventory
type: Class
subclass of: Personal Attribute
subclass of: Quality of Life Related Personal Attribute
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: A record of the type and dosage of all prescription and over-the-counter medications as well as dietary supplements currently being taken by the individual.
curator note: Request inclusion into relevant ontology Would it also be appropriate to add this to "Diagnostic Instrument" below "Diagnostics"?
has protocol: PhenX protocol: Medication Inventory #140301
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)
dc:source: https://www.phenxtoolkit.org/protocols/view/140301

Meditation
type: Class
subclass of: Behaviour Therapy
definition: A state of consciousness in which the individual eliminates environmental stimuli from awareness so that the mind can focus on a single thing, producing a state of relaxation and relief from stress. A wide variety of techniques are used to clear the mind of stressful outside interferences. It includes meditation therapy. (Mosby's Medical, Nursing, and Allied Health Dictionary, 4th ed)
definition source: http://purl.bioontology.org/ontology/MESH/D019122
existence in other ontologies: Sufficient
previous identifier: SCDO:0000741
database cross reference: MESH:D019122
hasExactSynonym: Transcendental Meditation

Mefloquine
type: Class
subclass of: Malaria Chemoprophylaxis
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
definition: A phospholipid-interacting antimalarial drug (antimalarials). It is very effective against plasmodium falciparum with very few side effects.
definition source: D015767
existence in other ontologies: Sufficient
previous identifier: SCDO:0000742
database cross reference: MESH:D015767
hasExactSynonym: Lariam
hasExactSynonym: Mephloquine
hasExactSynonym: WR142,490

Membranous Nephropathy
type: Class
subclass of: Nephropathy
subclass of: Abnormality of the Immune System
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
definition: A type of glomerulonephropathy characterized by histology with thickening of the basement membrane and deposition of immune complexes in the subepithelial space.
curator note: Suggest update to description in HPO
definition source: HP_0012578
has age of onset: Typically seen in adult population; rare in children.
is caused by: Idiopathic - may be related to M-type phosplipase A2 receptor antibodies; secondary forms may be related to autoimmune disease, underlying maligancies, drugs or infections. Has been reported in patients with sickle cell disease.
is characterised by: Nephrotic syndrome with histologic features specific to membranous nephropathy.
existence in other ontologies: Suggest update to description
database cross reference: HP:0012578
hasExactSynonym: MN
hasExactSynonym: Membranous Glomerulopathy

Mental Health
type: Class
subclass of: Quality of Life
subclass of: Restriction
  on property: modifies
  some values from: Quality of Life
definition: Emotional, psychological, and social well-being of an individual or group.
definition source: D008603
existence in other ontologies: Sufficient
previous identifier: SCDO:0000746
database cross reference: MESH:D008603
hasExactSynonym: Emotional Health
hasExactSynonym: Mental Hygiene

Meta-Analysis
type: Class
subclass of: Epidemiologic Studies
definition: Works consisting of studies using a quantitative method of combining the results of independent studies (usually drawn from the published literature) and synthesizing summaries and conclusions which may be used to evaluate therapeutic effectiveness, plan new studies, etc. It is often an overview of clinical trials. It is usually called a meta-analysis by the author or sponsoring body and should be differentiated from reviews of literature.
definition source: http://purl.bioontology.org/ontology/MESH/D017418
existence in other ontologies: Sufficient
previous identifier: SCDO:0000747
database cross reference: MESH:D017418

Metabolic State
type: Class
subclass of: Biological Disease Modifier
definition: The state of the chemical reactions that occur within the cells, tissues, or an organism. These processes include both the biosynthesis (anabolism) and the breakdown (catabolism) of organic materials utilized by the living organism.
curator note: Request inclusion into relevant ontology. Add as sub-classes: Metabolic Function Normal and Metabolic Function Abnormal? (from SNOMED CT)
definition source: http://purl.bioontology.org/ontology/MESH/D008660
existence in other ontologies: None
database cross reference: MESH:D008660
hasExactSynonym: Metabolic Function

Methemoglobinemia
type: Class
subclass of: Genetic Disorder
definition: The presence of methemoglobin in the blood, resulting in cyanosis. A small amount of methemoglobin is present in the blood normally, but injury or toxic agents convert a larger proportion of hemoglobin into methemoglobin, which does not function reversibly as an oxygen carrier. Methemoglobinemia may be due to a defect in the enzyme NADH methemoglobin reductase (an autosomal recessive trait) or to an abnormality in hemoglobin M (an autosomal dominant trait). (Dorland, 27th ed)
definition source: http://purl.bioontology.org/ontology/MESH/D008708
existence in other ontologies: Sufficient
previous identifier: SCDO:0000753
database cross reference: MESH:D008708
hasExactSynonym: MetHb

deprecated Diagnostic Method
type: Class
subclass of: from diagnostics
definition: 'Any procedure or test to diagnose a disease or disorder. [Curator team: []]'
term replaced by: Diagnostic Technique, Method, Test or Assay
curator note: Perhaps move other sibling classes below this class? (Imaging Test/Diagnostic Imaging, -- -- Include sub-class "Biopsy" and include specific types below that?
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
database cross reference: NCIT:C18020
hasExactSynonym: Diagnostic Procedure
deprecated: true

Migraine Questionnaire
type: Class
subclass of: Clinical or Research Assessment Questionnaire
subclass of: Diagnostic Instrument
definition: A questionnaire to assess migraines and headaches.
curator note: Suggest update to label in PhenX (from "Migraine") as we have done.
definition source: http://bioportal.bioontology.org/ontologies/PHENX/
existence in other ontologies: Suggest update to label
database cross reference: phenX:130500
hasExactSynonym: Headache Disability Questionnaire

Mobile Radiographic Unit
type: Class
subclass of: X-Ray Machine
definition: Transportable radiographic equipment allowing imaging services to be brought to the patient.
curator note: Request inclusion into relevant ontology
definition source: http://www.who.int/medical_devices/innovation/hospt_equip_26.pdf
definition source: https://radiologykey.com/mobile-radiography/
existence in other ontologies: None
creator: SCDO

Mobility Limitation
type: Class
subclass of: Physical Functioning
definition: Difficulty moving from place to place or from one position to another without assistance.
curator note: Suggest update to description in MESH.
definition source: http://purl.bioontology.org/ontology/MESH/D051346
existence in other ontologies: Suggest update to description
database cross reference: MESH:D051346
hasExactSynonym: Ambulation Difficulty
hasExactSynonym: Ambulatory Difficulty
hasExactSynonym: Difficulty Ambulation
hasExactSynonym: Difficulty Walking
hasExactSynonym: Mobility Limitations

Genetic Phenomena
type: Class
subclass of: SCDO
definition: The biological processes, properties, and objects that are involved in maintaining, expressing, and transmitting from one organism to another, genetically encoded traits.
definition source: D055614
existence in other ontologies: Sufficient
previous identifier: SCDO:0000765
database cross reference: MESH:D055614
hasExactSynonym: Concepts, Genetic

obsolete Modifying the Home Environment and Making it Safer For the Patient
type: Class
subclass of: from therapeutics
definition source: http://bioportal.bioontology.org/ontologies/ADO/
deprecated: true

Morphine
type: Class
subclass of: Opioid
subclass of: Restriction
  on property: treats
  some values from: Severe Anemia
subclass of: Restriction
  on property: treats
  some values from: Sickle Cell Disease-SD
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: The principal alkaloid in opium and the prototype opiate analgesic and narcotic. Morphine has widespread effects in the central nervous system and on smooth muscle.
definition source: D009020
existence in other ontologies: Sufficient
previous identifier: SCDO:0000771
database cross reference: MESH:D009020
hasExactSynonym: 17-methyl-7,8-didehydro-4,5alpha-epoxymorphinan-17-ium-3,6alpha-diol
hasExactSynonym: Morphia
hasExactSynonym: Morphium

obsolete Multicenter Study
type: Class
subclass of: obsolete Publication Type
definition: 'A work that reports on a study executed by several cooperating institutions. [Curator team: []]'
definition source: http://purl.bioontology.org/ontology/MESH/D016448
database cross reference: MESH:D016448
deprecated: true

Multicenter Studies as Topic
type: Class
subclass of: Research Characteristics
definition: Works about controlled studies which are planned and carried out by several cooperating institutions to assess certain variables and outcomes in specific patient populations, for example, a multicenter study of congenital anomalies in children.
definition source: D015337
existence in other ontologies: Sufficient
previous identifier: SCDO:0000775
database cross reference: MESH:D015337
hasExactSynonym: Multicenter Trial
hasExactSynonym: Multicenter Trials
hasExactSynonym: Multicentre Studies as Topic
hasExactSynonym: Multicentre Trial
hasExactSynonym: Multicentre Trials

Multidimensional Health Locus of Control Scales (MHLC)
type: Class
subclass of: Quality of Life and Care Measure
definition: The multidimensional health locus of control (MHLC) scale is a widely used measure of the factors that people believe exert some measures of control over their health. The MHLC originally developed by Wallston and colleagues contained 3 subscales describing various types of control-related cognitions an individual may have about the current state of his or her health. These were: Internal Health Locus of Control (IHLC), Powerful Others Health Locus of Control (PHLC) and Chance Health Locus of Control (CHLC). Subsequently, a fourth subscale, the God Locus of Health Control (G LHC) scale was developed to assess the extent of an individual's belief that God controls his or her health status was added to the measure. Thus, the expanded MHLC Consists of 4 sub-scales: one Internal and 3 external subscales namely, powerful others, chance and God. Each of the 4 sub-scales has 6 items making a total of 24 items. The two original versions of the MHLC (forms A & B) deal with the general health status whereas the third version (Form C) assesses control-related cognitions about a specific disease state.
curator note: Request inclusion into NCIT below "Research or Clinical Assessment Tool".
has cross-cultural adaptation: Multiple countries and cultural groups
has respondents: Self
has target population: Healthy population and patients with specific medical conditions
has translations: Spanish; Chinese; Persian
selection criteria met: Has adequate construct validity and acceptable metric properties
validated for age ranges: 15 years and above
freely available: no
existence in other ontologies: Few but definitions not freely available
dc:source: Wallston K., Wallston B. and De Vellis R. (1978). Development of the multidimensional health locus of control (MHLC) scales. Health Education Monographs, 6, 160-169.
dc:source: Wallston KA, Malcarne VL, Flores L, Hansdottir I, Smith CA, Stein MJ, Weisman MH, Clements PJ. Does God Determine Your Health? The God Locus of Health Control Scale. Cognitive Therapy and Research . April 1999, Volume 23 (2):131-142.
hasExactSynonym: MHLC
hasExactSynonym: MHLC Scales
hasExactSynonym: Multidimensional Health Locus of Control Scales

Muscle Atrophy
type: Class
subclass of: SCDO_1000268
definition: The presence of skeletal muscular atrophy, reduction in the muscle bulk.
curator note: Suggest update to description in HPO. Provide source for additional info.
definition source: http://purl.obolibrary.org/obo/HP_0003202
existence in other ontologies: Suggest update to description
database cross reference: HP:0003202
hasExactSynonym: Amyotrophy
hasExactSynonym: Muscle Wasting
hasExactSynonym: Muscular Atrophy
hasExactSynonym: Neurogenic Muscle Atrophy
hasExactSynonym: Skeletal Muscle Atrophy

deprecated Musculoskeletal System
type: Class
subclass of: from phenotype
definition: Anatomical system that consists of the muscular and skeletal systems.
term replaced by: SCDO_0006301
term replaced by: SCDO_1000268
definition source: http://purl.obolibrary.org/obo/UBERON_0002204
database cross reference: UBERON:0002204
hasExactSynonym: Musculo-Skeletal System
deprecated: true

Mutation Carrier Screening
type: Class
subclass of: Genetic Screening
definition: The process of identifying carriers/heterozygotes of a genetic mutation that can result in a severe recessive condition. Carrier screening is done using various laboratory techniques.
curator note: Request inclusion into relevant ontology (MESH) or suggest inclusion of description in NCIT.
definition source: Alswaidi, F.M. and O'brien, S.J., 2009. Premarital screening programmes for haemoglobinopathies, HIV and hepatitis viruses: review and factors affecting their success. Journal of medical screening, 16(1), pp.22-28.
existence in other ontologies: Few but definitions not freely available
creator: SCDO (Clair Ingram)
database cross reference: MESH:D006580
hasExactSynonym: Mutation Carrier Detection
comment: This term is very similar to but different (more specific) from the term "Genetic Carrier Screening" in MESH.

MYB
type: Class
subclass of: Non-Globin Gene
definition: This gene encodes a protein with three HTH DNA-binding domains that functions as a transcription regulator. This protein plays an essential role in the regulation of hematopoiesis. This gene may be aberrently expressed or rearranged or undergo translocation in leukemias and lymphomas, and is considered to be an oncogene. Alternative splicing results in multiple transcript variants.
curator note: Exists in other ontologies but we have provided a description more relevant to its relationship with SCD.
curator note: Link to "Hereditary Persistence of fetal hemoglobin".
definition source: http://www.ncbi.nlm.nih.gov/gene/4602
existence in other ontologies: Not relevant to context of sickle cell
hasExactSynonym: MYB Gene
hasExactSynonym: MYB Proto-Oncogene, Transcription Factor
hasExactSynonym: MYB-HSP1

N-terminal Pro-brain Natriuretic Peptide Test
type: Class
subclass of: Blood Test
subclass of: Restriction
  on property: has essential measure
  some values from: Ethnic Group
subclass of: Restriction
  on property: has essential measure
  some values from: Race
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: measures
  some values from: N-Terminal Pro-Brain Natriuretic Peptide Level
definition: A bioassay to determine an individual's level of N-terminal pro-brain natriuretic peptide (NT-proBNP).
curator note: Label different from source's "N-terminal Pro-brain Natriuretic Peptide (NT-proBNP)"
definition source: https://www.phenxtoolkit.org/protocols/view/810501
existence in other ontologies: Suggest update to label
database cross reference: phenX:810501
hasExactSynonym: NT-proBNP Test
comment: Equipment needed: Phlebotomy supplies, centrifuge for serum separation, and freezer for sample storage is required.

Naloxone
type: Class
subclass of: Opioid
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: A specific opiate antagonist that has no agonist activity. It is a competitive antagonist at mu, delta, and kappa opioid receptors.
curator note: Are the synonyms included relevant to SCD? Should other synonyms from the description source be included?
definition source: D009270
existence in other ontologies: Sufficient
previous identifier: SCDO:0000789
database cross reference: MESH:D009270
hasExactSynonym: 1-N-Allyl-14-hydroxynordihydromorphinone
hasExactSynonym: 17-allyl-3,14-dihydroxy-4,5α-epoxymorphinan-6-one
hasExactSynonym: MRZ-2593

Nasal Decongestants
type: Class
subclass of: Drug
subclass of: Supportive Therapeutics
definition: Drugs designed to treat inflammation of the nasal passages, generally the result of an infection (more often than not the common cold) or an allergy related condition, e.g., hay fever. The inflammation involves swelling of the mucous membrane that lines the nasal passages and results in inordinate mucus production. The primary class of nasal decongestants are vasoconstrictor agents. (From PharmAssist, The Family Guide to Health and Medicine, 1993)
definition source: D014663
existence in other ontologies: Sufficient
previous identifier: SCDO:0000791
database cross reference: MESH:D014663
hasExactSynonym: Nasal Vasoconstrictor Agents
hasExactSynonym: Nasal Vasoconstrictors

obsolete Nephrology
type: Class
subclass of: deprecated Urinary System
definition: 'A subspecialty of internal medicine concerned with the anatomy, physiology, and pathology of the kidney. [Curator team: []]'
definition source: http://purl.bioontology.org/ontology/MESH/D009398
database cross reference: MESH:D009398
deprecated: true

Nephrotic Syndrome
type: Class
subclass of: Nephropathy
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Urinary Albumin Test
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Urinary Creatinine Test
subclass of: Restriction
  on property: treated with
  some values from: Angiotensin-Converting Enzyme Inhibitors
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urinary Protein Measurement
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urine Albumin Excretion Rate
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urine Albumin-Creatinine Ratio
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria >3.5 g per 24 hours (in children, >40 mg/m2/hr or PCR >2000 mg/g [>200 mg/mmol] or >300 mg/dl or 3+ on urine dipstick) plus hypoalbuminemia (<3gm/dl) and edema.
curator note: Suggest update to description in the HPO
definition source: HP_0000100
has age of onset: Nephrotic syndrome related to sickle cell disease typically occurs in adulthood and preceded by lesser degree of proteinuria, other forms may occur at any age with different histologic lesions occurring at different ages.
is caused by: Variety of causes - in sickle cell disease, most common lesion is focal segmental glomerulosclerosis (FSGS). Other causes may be other forms of primary glomerular disease including membranous nephropathy, minimmal change disease, membranoproliferative glomerulonephritis. Secondary forms may result from diabetes, amyloidosis.
is characterised by: Heavy proteinuria, edema, hyperlipidemia. May also be associated with hypertension and increased risk of venous thrombosis.
existence in other ontologies: Suggest update to description
database cross reference: HP:0000100
hasExactSynonym: Nephrosis

Nephrotic Range Proteinuria
type: Class
subclass of: Proteinuria
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Urinary Albumin Test
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Urinary Creatinine Test
subclass of: Restriction
  on property: treated with
  some values from: Angiotensin-Converting Enzyme Inhibitors
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urinary Protein Measurement
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urine Albumin Excretion Rate
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urine Albumin-Creatinine Ratio
definition: Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children, or urine protein to creatinine ratio >2000 mg/g [>200 mg/mmol] in children.
curator note: Suggest update to description in HPO.
definition source: HP_0012593
definition source: KDIGO-GN-Guideline.pdf
has age of onset: In sickle cell disease, seen primarily in adult population but may develop in childhood if secondary cause occurs.
is caused by: Glomerular diseases that lead to protein loss in the urine (See Nephrotic Syndrome).
is characterised by: Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children, or urine protein to creatinine ratio >2000 mg/g [>200 mg/mmol] in children.
existence in other ontologies: Suggest update to description
dc:source: HP_0012593
dc:source: KDIGO-GN-Guideline.pdf
database cross reference: HP:0012593
hasExactSynonym: Nephrotic-Range Proteinuria
comment: Is diagnosed by assessment of proteinuria (see Proteinuria) by 24hr urine collection or by urine protein-creatinine ratio on spot urine sample [KDIGO 2012].

deprecated Nervous System
type: Class
subclass of: from phenotype
definition: The nervous system is an organ system containing predominantly neuron and glial cells. In bilaterally symmetrical organism, it is arranged in a network of tree-like structures connected to a central body. The main functions of the nervous system are to regulate and control body functions, and to receive sensory input, process this information, and generate behavior.
term replaced by: SCDO_0009698
definition source: http://purl.obolibrary.org/obo/UBERON_0001016
database cross reference: UBERON:0001016
hasExactSynonym: Neurological System
deprecated: true

Neurocognitive Impairment
type: Class
subclass of: Abnormal Nervous System Physiology
subclass of: Phenotype of Sickle Cell Disease
definition: An invisible complication of sickle cell anemia (SSA) that defies detection by imaging and other routine diagnostic methods. Impaired neurocognitive function in seemingly neurologically intact patients is not related to vasoocclusion or hemolysis. It is detected by neuropsychiatric and neurobehavioral testing and is associated with anemia and age.
curator note: Request inclusion into relevant ontology
definition source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415156/
existence in other ontologies: None
creator: SCDO

Neurological Rehabilitation
type: Class
subclass of: Rehabilitation
definition: Physician-supervised programs designed to rehabilitate people with diseases, trauma, or disorders of the nervous system.
definition source: http://purl.bioontology.org/ontology/MESH/D000066530
existence in other ontologies: Sufficient
previous identifier: SCDO:0000801
database cross reference: MESH:D000066530
hasExactSynonym: Neurologic Rehabilitation
hasExactSynonym: Neurorehabilitation
hasExactSynonym: Rehabilitation, Neurologic
hasExactSynonym: Rehabilitation, Neurological

Neonatal Screening for Sickle Cell
type: Class
subclass of: Sickle Cell Disease Screening Test
definition: Testing of neonates to identify those with major sickling diseases.
curator note: Link to "Hb isoelectric focusing" and "HPLC fractionation" ? Request inclusion into relevant ontology. Perhaps in SNOMED CT below "Screening for sickle cell disease"?
definition source: Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies. JAMA. 1987;258(9):1205–1209. doi:10.1001/jama.1987.03400090089040
existence in other ontologies: None
hasExactSynonym: Newborn Infant Screening for Sickle Cell

NIH Stroke Scale (NIHSS)
type: Class
subclass of: Stroke Impact Measure
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: A physical assessment of the various symptoms associated with a stroke, consisting of 11 categories. For each category, the test administrator asks the respondent to perform an activity or respond to stimuli. Respondents receive a score for each category based upon their ability to complete the activity or respond to the action. Each score typically ranges from 0 to 3. Each category of the NIHSS is designed to determine the respondent's level of consciousness (LOC), visual, motor, or language ability.
definition source: http://www.phenxtoolkit.org/index.php
has protocol: PhenX protocol: NIH Stroke Scale (NIHSS) #820801
validated for age ranges: 18 years and older
freely available: Examiners must be trained to administer, score, and interpret the NIH Stroke Scale (NIHSS). The National Institute of Neurological Disorders and Stroke (NINDS) provides a comprehensive interactive training DVD for the NIHSS. Information and purchasing details for this training are available on the NINDS website.
existence in other ontologies: Few but definitions not freely available
database cross reference: phenX:820801
hasExactSynonym: NIH Stroke Scale
hasExactSynonym: NIHSS

No-Show Patient
type: Class
subclass of: Patient Compliance
definition: Patients who do not turn up for scheduled healthcare appointments.
definition source: http://purl.bioontology.org/ontology/MESH/D000067455
existence in other ontologies: Sufficient
previous identifier: SCDO:0000807
database cross reference: MESH:D000067455
hasExactSynonym: No Show Patient
hasExactSynonym: Patient No Show
hasExactSynonym: Patient No-Show

Nocturia
type: Class
subclass of: Abnormality of the Urinary System
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
definition: Frequent urination at night that interrupts sleep. It is often associated with outflow obstruction, diabetes mellitus, or bladder inflammation (cystitis).
definition source: http://purl.bioontology.org/ontology/MESH/D053158
existence in other ontologies: Sufficient
previous identifier: SCDO:0000808
database cross reference: MESH:D053158
hasExactSynonym: Nycturia
comment: Often occuring as a result of heart insufficiency.

Non Opioid
type: Class
subclass of: Analgesic
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: A subclass of analgesic agents that typically do not bind to opioid receptors and are not addictive. Many non-narcotic analgesics are offered as nonprescription drugs.
definition source: http://purl.bioontology.org/ontology/MESH/D018712
existence in other ontologies: Sufficient
previous identifier: SCDO:0000809
database cross reference: MESH:D018712
hasExactSynonym: Non-Narcotic
hasExactSynonym: Nonnarcotic
hasExactSynonym: Nonnarcotic Analgesic
hasExactSynonym: Nonnarcotic Opioid
hasExactSynonym: Nonopioid

Non-Globin Gene
type: Class
subclass of: Gene
definition: A gene that does not encode a globin family protein.
curator note: Perhaps too specific to the SCDO to be included in other ontologies?
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Non-Proliferative Sickle Retinopathy
type: Class
subclass of: Sickle Retinopathy
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Sickle retinopathy caused by direct damage or remodeling of the small blood vessels supplying the retina secondary to vaso-occlusion and local ischemia.
curator note: Request inclusion into HPO below "Retinopathy/Sickle Retinopathy".
definition source: http://en.wikipedia.org/wiki/Retinopathy
definition source: http://eyewiki.aao.org/Sickle_Cell_Retinopathy
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Non-specific Acute Lower Respiratory Tract Episode
type: Class
subclass of: Abnormality of the Respiratory System
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Personal Medical History
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Physical Examination
subclass of: Restriction
  on property: treated with
  some values from: Antibiotic
subclass of: Restriction
  on property: treated with
  some values from: Blood Transfusion
subclass of: Restriction
  on property: treated with
  some values from: Hydration Therapy
subclass of: Restriction
  on property: treated with
  some values from: Physiotherapy
definition: Includes acute respiratory episodes with lower respiratory tract signs that do not meet the criteria for other diagnoses. May include episodes which would have been diagnosed as ACS were radiographic facilities available.
curator note: Request inclusion into relevant ontology Provide source for additional info.
is caused by: Several possible etiologies including infections by various classes of microorganisms, pulmonary fat emobolism, infarction and pulmonary embolism.
is characterised by: Acute onset of respiratory symptoms and signs including cough, coryza +/- fever.
existence in other ontologies: None
creator: SCDO

obsolete Observational Study
type: Class
subclass of: obsolete Clinical Study
definition: 'A work that reports on the results of a clinical study in which participants may receive diagnostic, therapeutic, or other types of interventions, but the investigator does not assign participants to specific interventions (as in an interventional study). [Curator team: []]'
definition source: http://purl.bioontology.org/ontology/MESH/D064888
database cross reference: MESH:D064888
deprecated: true

Observational Studies as Topic
type: Class
subclass of: Clinical Studies as Topic
definition: Works about clinical studies in which participants may receive diagnostic, therapeutic, or other types of interventions, but the investigator does not assign participants to specific interventions (as in an interventional study).
definition source: http://purl.bioontology.org/ontology/MESH/D064887
existence in other ontologies: Sufficient
previous identifier: SCDO:0000819
database cross reference: MESH:D064887

Occupational Therapy
type: Class
subclass of: Rehabilitation
subclass of: Restriction
  on property: treats
  some values from: Mononeuropathy
subclass of: Restriction
  on property: treats
  some values from: Polyneuropathy
subclass of: Restriction
  on property: treats
  some values from: Cerebral Hemorrhage
subclass of: Restriction
  on property: treats
  some values from: Rheumatoid Arthritis
subclass of: Restriction
  on property: treats
  some values from: Facial Nerve Palsy
subclass of: Restriction
  on property: treats
  some values from: Ataxia
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Skilled treatment that helps individuals achieve independence in all facets of their lives. It assists in the development of skills needed for independent living.
definition source: http://purl.bioontology.org/ontology/MESH/D009788
existence in other ontologies: Sufficient
previous identifier: SCDO:0000822
database cross reference: MESH:D009788
hasExactSynonym: Occupational Therapies
hasExactSynonym: Therapies, Occupational
hasExactSynonym: Therapy, Occupational

Oliguria
type: Class
subclass of: Abnormality of the Kidney
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urine Measurement
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Low output of urine, defined as an output below 5mL/kg/hr over 6 hours.
curator note: Suggest update to description in HPO
definition source: HP_0100520
existence in other ontologies: Suggest update to description
database cross reference: HP:0100520
hasExactSynonym: Reduced Urine Output

Ophthalmologic Surgical Procedure
type: Class
subclass of: Symptomatic Therapeutics
definition: Surgery performed on the eye or any of its parts.
definition source: http://purl.bioontology.org/ontology/MESH/D013508
existence in other ontologies: Sufficient
previous identifier: SCDO:0000833
database cross reference: MESH:D013508
hasExactSynonym: Ophthalmologic Surgical Procedures
hasExactSynonym: Ophthalmological Surgical Procedure

Ophthalmoscope
type: Class
subclass of: Diagnostic Device
subclass of: Restriction
  on property: used by diagnostic tool
  some values from: Retinal Examination
subclass of: Restriction
  on property: used by diagnostic tool
  some values from: Ophthalmoscopy
definition: Device for examining the interior of the eye, permitting the clear visualization of the structures of the eye at any depth.
definition source: http://purl.bioontology.org/ontology/MESH/D019721
existence in other ontologies: Sufficient
previous identifier: SCDO:0000834
database cross reference: MESH:D019721
hasExactSynonym: Funduscope
hasExactSynonym: Ophthalmoscopes

Ophthalmoscopy
type: Class
subclass of: Eye Examination
subclass of: Restriction
  on property: uses diagnostic device
  some values from: Ophthalmoscope
definition: Examination of the interior of the eye with an ophthalmoscope.
curator note: Include "Direct Ophthalmoscopy" and "Indirect Ophthalmoscopy" from NCIT as sub-classes? (Direct could be used to diagnose "Conjunctival Comma Sign")
definition source: http://purl.bioontology.org/ontology/MESH/D009887
existence in other ontologies: Sufficient
previous identifier: SCDO:0000835
database cross reference: MESH:D009887

Osteomalacia
type: Class
subclass of: Abnormality of the Skeletal System
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: A general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.
curator note: Suggest update to description in HPO. (remove "Osteomalacia" from start of definitiion) Provide source for additional info.
definition source: http://purl.obolibrary.org/obo/HP_0002749
is caused by: Abnormal vitamin D metabolism: 1) Deficient intake or absorption;2) Defective 25-hydroxylation due to biliary cirrhosis- alcoholic cirrhosis- anticonvulsants; 3) Loss of vitamin D binding protein- nephrotic syndrome; 4) Defective 1-alpha 25-hydroxylation: Hypoparathyroidism, Renal failure, Vitamin D-dependent rickets type 1; 5) Defective target organ response to calcitriol: Vitamin D-dependent rickets, type II (Hereditary vitamin D resistant rickets, HVDRR). Mineralization defects: 1) Abnormal matrix: Chronic renal failure, Osteogenesis imperfecta, Fibrogenesis imperfecta, Axial osteomalacia; 2) Enzyme deficiency: Hypophosphatasia; 3) Mineralization inhibitors: bisphosphonates, Aluminum, fluoride. Phosphate deficiency: 1) Decreased intake ( antiacids); 2) Impaired renal reabsorption, that can be Primary defects = X-linked hypophosphatemic rickets (vitamin D resistant rickets, VDRR), Hereditary hypophosphatemic rickets with hypercalciuria, Sporadic acquired hypophosphatemic rickets, Fanconi syndrome, Wilson disease, cystinosis, multiple myeloma; or can be Secondary defects = 2) Secondary hyperparathyroidism (renal tubular acidosis, type 1 and disorders of vitamin D metabolism), 2) Oncogenic osteomalacia.
is characterised by: May be asymptomatic and present radiologically as osteopenia. Or it may present as diffuse bone and joint pain, muscle weakness, and difficulty walking, Fractures, Muscle spasms, cramps.
existence in other ontologies: Suggest update to description
database cross reference: HP:0002749
hasExactSynonym: Adult Rickets

Osteomyelitis
type: Class
subclass of: Abnormality of the Skeletal System
subclass of: Infection
subclass of: Restriction
  on property: treated with
  some values from: Antibiotic
subclass of: Restriction
  on property: treated with
  some values from: Surgery
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: An inflammatory process accompanied by bone destruction and caused by an infecting microorganism.
curator note: Suggest update to description in HPO (remove "Osteomyelitis is" from the start of the definition. Provide source for additional info.
definition source: http://purl.obolibrary.org/obo/HP_0002754
is caused by: Bacteria, blunt trauma, fracture, bone surgery.
is characterised by: Tenderness, redness, and warmth in the area of infection, fever, fatigue, bone pain, swelling around the affected bone, lost range of motion.
existence in other ontologies: Suggest update to description
database cross reference: HP:0002754
hasExactSynonym: Bone Infection
comment: Osteomyelitis can be acute or chronic and can be caused by a variety of microbial agents.

Arterial Oxygen Saturation
type: Class
subclass of: Arterial Blood Gas Measurement
subclass of: Oxygen Saturation
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Arterial Blood Gas Test
subclass of: Restriction
  on property: has possible finding
  some values from: SCDO_1000808
subclass of: Restriction
  on property: has possible finding
  some values from: SCDO_1000813
definition: The amount of oxygen bound to hemoglobin in arterial blood expressed as a percentage of the maximal binding capacity, as determined by an arterial blood gas test.
curator note: Request inclusion into CMO below "Oxygen Saturation"
definition source: Oxygen Saturation
existence in other ontologies: Few but definitions not freely available
hasExactSynonym: Arterial HbO2
hasExactSynonym: Arterial Oxyhemoglobin Saturation
hasExactSynonym: Arterial SaO2
hasExactSynonym: Arterial Sats
hasExactSynonym: HBOXHGB
hasExactSynonym: Oxygen Saturation of Arterial Blood
hasExactSynonym: Oxyhemoglobin to Total Hemoglobin Ratio Measurement
hasExactSynonym: Oxyhemoglobin/Total Hemoglobin

Pain
type: Class
subclass of: Constitutional Symptom
subclass of: Restriction
  on property: treated with
  some values from: Transcutaneous Electrical Nerve Stimulation
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: An unpleasant sensory and emotional experience triggered in the nervous system, associated with actual or potential tissue damage, or described in terms of such damage.
curator note: Suggest update to description in HPO. Provide source for additional info.
definition source: http://purl.obolibrary.org/obo/HP_0012531
is caused by: Somatic pain is caused by injury to skin, muscles, bone, joint, and connective tissues. Deep somatic pain is usually described as dull or aching, and localized in one area. Visceral pain refers to pain that originates from ongoing injury to the internal organs or the tissues that support them. Somatic pain from injury to the skin or the tissues just below it often is sharper and may have a burning or pricking quality.
is characterised by: Nociceptive pain is believed to be caused by the ongoing activation of pain receptors in either the surface or deep tissues of the body. There are two types: "somatic" pain and "visceral" pain. Neuropathic pain is believed to be caused by changes in the nervous system that sustain pain even after an injury heals. "Psychogenic" pain is a simple label for all kinds of pain that can be best explained by psychological problems.
existence in other ontologies: Suggest update to description
database cross reference: HP:0012531

Pain Status
type: Class
subclass of: Physical Functioning
definition: The impact of sickle cell pain on the daily activities of patients. The degree to which pain interferes with their quality of life. This pain is related to the unique features of Sickle Cell Disease.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO
hasExactSynonym: Pain Burden
hasExactSynonym: Pain Disability
hasExactSynonym: Pain Impact
hasExactSynonym: Pain Interference

Palpation of Liver
type: Class
subclass of: Liver Examination
definition: A method of determining the shape and consistency of the liver by feeling with the fingers or hands.
curator note: Request inclusion into relevant ontology
existence in other ontologies: Few but definitions not freely available
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Liver Palpation

Parasite
type: Class
subclass of: Infectious Agent
definition: Invertebrate organisms that live on or in another organism (the host), and benefit at the expense of the other. Traditionally excluded from definition of parasites are pathogenic bacteria; fungi; viruses; and plants; though they may live parasitically.
definition source: http://purl.bioontology.org/ontology/MESH/D010271
existence in other ontologies: Sufficient
previous identifier: SCDO:0000866
database cross reference: MESH:D010271
hasExactSynonym: Parasites

Patient Compliance
type: Class
subclass of: Health Behaviour
subclass of: Mental Health
subclass of: Restriction
  on property: modifies
  some values from: Treatment Efficacy
definition: Voluntary cooperation of the patient in following a prescribed regimen.
definition source: http://purl.bioontology.org/ontology/MESH/D010349
existence in other ontologies: Sufficient
previous identifier: SCDO:0000869
database cross reference: MESH:D010349
hasExactSynonym: Adherence
hasExactSynonym: Patient Adherence
hasExactSynonym: Patient Cooperation

Pediatric Migraine Disability Assessment
type: Class
subclass of: Migraine Questionnaire
definition: A headache disability questionnaire which is completed by the patient and his/her parent and is reviewed with the clinician or study staff. It captures the impact of headaches on school performance (three questions), activities at home (one question on homework or chores), and social and/or sports functions (two questions). It is scored by summing the answers across the six questions. If a range is provided as an answer, either use the high end of the range or prompt for a single answer. The frequency and severity are not scored but can be used for clinical reference.
curator note: Suggest update to label in PhenX (from "Migraine - Children") as we have done.
definition source: https://www.phenxtoolkit.org/protocols/view/130502
has protocol: PhenX protocol: Migraine - Children #130502
existence in other ontologies: Suggest update to label
database cross reference: phenX:130502
hasExactSynonym: PedMIDAS
hasExactSynonym: Pediatric Migraine Questionnaire

Pediatric NIH Stroke Scale (PedNIHSS)
type: Class
subclass of: Stroke Impact Measure
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: A physical assessment of the various symptoms associated with a stroke, consisting of eleven categories. The PedNIHSS was developed by a panel of pediatric and adult stroke experts and is a modification of the adult NIH stroke scale (NIHSS). Modifications were made to allow individuals age 18 or younger to be assessed and are identified in the PedNIHSS by bold italic text.
definition source: http://www.phenxtoolkit.org/index.php
has protocol: PhenX protocol: Pediatric NIH Stroke Scale (PedNIHSS) #820802
validated for age ranges: 2-18 years old
freely available: Examiners must be trained to administer, score, and interpret the NIHSS. The National Institute of Neurological Disorders and Stroke (NINDS) provides a comprehensive interactive training DVD for the National Institutes of Health Stroke Scale (NIHSS). Information and purchasing details for this training is available on the NINDS website.
existence in other ontologies: None
database cross reference: phenX:820802
hasExactSynonym: PedNIHSS
hasExactSynonym: Pediatric NIH Stroke Scale
comment: For each category of the PedNIHSS, the examiner asks the respondent to perform an activity or respond to an action by the provider. Respondents receive a score for each category based upon their ability to complete the activity or respond to the action. Each score typically ranges from 0 to 3. Each category of the PedNIHSS is designed to determine the respondent’s level of consciousness (LOC), visual, motor, or language ability.

Pediatric School Performance Measure
type: Class
subclass of: Quality of Life and Care Measure
subclass of: SCDO_1000297
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: A questionnaire to assess educational performance and learning accommodations.
curator note: Suggest update to label in PhenX as we have done.
definition source: http://bioportal.bioontology.org/ontologies/PHENX
has protocol: PhenX protocol: Pediatric School Performance #840201
has_application_toward: Many rare genetic conditions (e.g., sickle cell disease) and other diseases are associated with developmental delays, damage to the central nervous system, and frequent absences from school due to illness, all of which can impact school performance.
existence in other ontologies: Suggest update to label
dc:source: https://www.phenxtoolkit.org/protocols/view/840201
database cross reference: phenX:840200

PedsQL Multidimensional Fatigue Scale
type: Class
subclass of: Pediatric Quality of Life Inventory (PedsQL)
definition: A generic symptom-specific instrument to measure fatigue across pediatric populations.
curator note: Request inclusion into NCIT below "Pediatric Quality of Life Inventory".
definition source: Panepinto JA, Torres S, Bendo CB, McCavit TL, Dinu B, Sherman-Bien S, Bemrich-Stolz C, Varni JW (2014). PedsQL Multidimensional Fatigue Scale in sickle cell disease: feasibility, reliability, and validity. Pediatric Blood & Cancer, 61,171-177
has respondents: Self; Proxy (Parent report)
has target population: Clinic patients
selection criteria met: Validation study in SCD
validated for age ranges: Children 2 - 18 (child report ages 5 - 18 years; parent proxy report of children ages 2 - 18 years)
existence in other ontologies: None
comment: The 18-item PedsQL Multidimensional Fatigue Scale encompasses three domains: 1) General Fatigue, 2) Sleep/Rest Fatigue and 3) Cognitive Fatigue. The format, instructions, Likert response scale, and scoring method are identical to the PedsQL 4.0 Generic Core Scales [16], with higher scores indicating better HRQOL (lower fatigue symptoms). The instructions ask how much of a problem each item has been during the past one month.

PedsQL Sickle Cell Disease Module
type: Class
subclass of: Pediatric Quality of Life Inventory (PedsQL)
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: The PedsQL Sickle Cell Disease Module includes 43 items from 9 subscales: Pain and Hurt (9 items); Pain Impact (10 items); Pain Management and Control (2 items); Worry (5 items); Worry II (2 items); Emotions (2 items); Treatment (7 items); Communication I (3 items); and Communication II (3 items). For all ages, each item asks how much of a problem there has been in the past month. There are self- or parent-reported forms for ages 8 to 18, and responses are scored on a 5-point Likert-style scale (0 = never a problem; 1 = almost never a problem; 2 = sometimes a problem; 3 = often a problem; 4 = almost always a problem). Forms for children ages 5 to 7 are interviewer-administered, and responses include a 3-point Likert-style scale (0 = not at all a problem; 2 = sometimes a problem; 4 = a lot of a problem). Items are reversed-scored and converted to a 100-point scale (0 = 100, 1 = 75, 2 = 50, 3 = 25, 4 = 0) with higher scores indicating better quality of life. Scores for individual subscales are the sum of items divided by the total number or items answered. The total score for the PedsQL Sickle Cell Disease Module is the sum of the items divided by the number of items answered.
curator note: Request inclusion into NCIT below "Pediatric Quality of Life Inventory".
definition source: https://www.phenxtoolkit.org/protocols/view/820202
has protocol: PhenX protocol: PedsQL Sickle Cell Disease Module #820202
has respondents: Self; Proxy (Parent report)
has target population: Clinic Patients (Children with SCD)
validated for age ranges: Ages 2 to 18
freely available: No. The PedsQ Sickle Cell Disease Module is a proprietary instrument and administration requires permission and a license from the MAPI Research Trust.
existence in other ontologies: None
dc:source: Panepinto JA, Torres S, Bendo CB, McCavit TL, Dinu B, Sherman-Bien S, Bemrich-Stolz C, Varni JW (2013).PedsQL sickle cell disease module: feasibility, reliability, and validity.Pediatric Blood & Cancer, 60,1338-1344.

Penicillin Prophylaxis
type: Class
subclass of: Antibiotic Prophylaxis
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Use of penicillin for the prevention of infections with penicillin-susceptible organisms, e.g. Streptococcus pneumoniae.
curator note: Request inclusion into relevant ontology
existence in other ontologies: Few but definitions not freely available
creator: SCDO

Percussion of Liver
type: Class
subclass of: Liver Examination
definition: A method of determining the size of the liver by tapping on the surface of the abdomen.
curator note: To be requested for inclusion into SNOMED CT, below "Diagnostic procedure on liver".
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Peripheral Oxygen Saturation
type: Class
subclass of: Oxygen Saturation
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Pulse Oximetry (Rest)
subclass of: Restriction
  on property: output of diagnostic device
  some values from: Pulse Oximeter
definition: An estimation of the oxygen saturation level usually measured with a pulse oximeter device.
curator note: Request inclusion into CMO below "Oxygen Saturation"
definition source: http://en.wikipedia.org/wiki/Oxygen_saturation_(medicine)
existence in other ontologies: Few but definitions not freely available
database cross reference: SNOMEDCT:431314004
hasExactSynonym: Oxygen Saturation of Peripheral Blood
hasExactSynonym: Peripheral SaO2
hasExactSynonym: Peripheral Sats
hasExactSynonym: Peripheral HbO2
hasExactSynonym: Peripheral Oxyhemoglobin Saturation
hasExactSynonym: SpO2

Phenotype of Sickle Cell Disease
type: Class
subclass of: Abnormal Phenotype
subclass of: Disease Phenotype
subclass of: Restriction
  on property: modified by
  some values from: Increased Hemoglobin F
subclass of: Restriction
  on property: modified by
  some values from: Alpha Thalassemia
subclass of: Restriction
  on property: modified by
  some values from: Hydroxyurea
subclass of: Restriction
  on property: modified by
  some values from: Alpha-Globin Locus Deletion
subclass of: Restriction
  on property: modified by
  some values from: Sickle Cell Anemia Associated with Alpha Thalassemia
subclass of: Restriction
  on property: modified by
  some values from: SCD Molecular Phenotype
subclass of: Restriction
  on property: modified by
  some values from: Altered Level of Normal Hemoglobin in SCD
subclass of: Restriction
  on property: modified by
  some values from: SCDO_1000707
subclass of: Restriction
  on property: modifies
  some values from: Quality of Life in Sickle Cell Disease Measure
subclass of: Restriction
  on property: caused by
  some values from: SCD Molecular Phenotype
definition: A (combination of) quality(ies) of some or all sickle cell disease individuals, determined by the interaction of the genetic make-up of these individuals (with regard to sickle cell disease) and their environment.
curator note: Probably too specific to warrant inclusion into anther ontology. Make sure complications as described in "Definitions of the Phenotypic Manifestations of Sickle Cell Disease" (Ballas, 2010) are included in Phenotype.
definition source: http://bioportal.bioontology.org/ontologies/OGMS
existence in other ontologies: None
creator: SCDO
database cross reference: OGMS:0000023

Physical Detection Method
type: Class
subclass of: Diagnostic Technique, Method, Test or Assay
definition: The physical method (technology) used to measure / readout the effect caused by a perturbagen in the assay environment.
definition source: http://bioportal.bioontology.org/ontologies/BAO
existence in other ontologies: Sufficient
previous identifier: SCDO:0000896
database cross reference: BAO:0000035

Physical Environment
type: Class
subclass of: Environmental Disease Modifier
definition: The part of the human environment that consists of purely physical factors, including the natural environment (such as soil, climate, water supply) and the built environment.
curator note: Request inclusion into relevant ontology
definition source: Physical Environment. Merriam-Webster.com. Merriam-Webster, n.d. Web. 9 Nov. 2016.
existence in other ontologies: Few but definitions not freely available

Physical Examination
type: Class
subclass of: Diagnostic Technique, Method, Test or Assay
definition: Systematic and thorough inspection of the patient for physical signs of disease or abnormality.
definition source: http://purl.bioontology.org/ontology/MESH/D010808
existence in other ontologies: Sufficient
previous identifier: SCDO:0000898
database cross reference: MESH:D010808
hasExactSynonym: Physical Assessment

Physical Functioning
type: Class
subclass of: Quality of Life
subclass of: Restriction
  on property: modifies
  some values from: Quality of Life
definition: One's ability to carry out activities that require physical actions, ranging from self-care (activities of daily living) to more complex activities that require a combination of skills, often within a social context. Physical function is inclusive of the term disability and includes the full spectrum of physical functioning from severe impairment to exceptional physical abilities.
curator note: Determine and specify the description source. -- -- Include a term to do with level of independence?
definition source: https://www.gem-measures.org/Public/MeasureDetail.aspx
existence in other ontologies: Few but definitions not specific enough
creator: SCDO
hasExactSynonym: Mobility
hasExactSynonym: Motor Function
hasExactSynonym: Physical Function
hasExactSynonym: Physical Health

Physiological Assay
type: Class
subclass of: Diagnostic Technique, Method, Test or Assay
definition: An organismal assay designed to capture information pertaining to the organic processes and phenomena of an organism or any of its parts or of a particular bodily process.
definition source: http://purl.obolibrary.org/obo/ERO_0001292
existence in other ontologies: Sufficient
previous identifier: SCDO:0000902
database cross reference: ERO:0001292

Physiotherapy
type: Class
subclass of: Rehabilitation
subclass of: Restriction
  on property: treats
  some values from: Mononeuropathy
subclass of: Restriction
  on property: treats
  some values from: Acute Chest Syndrome
subclass of: Restriction
  on property: treats
  some values from: Polyneuropathy
subclass of: Restriction
  on property: treats
  some values from: Cerebral Hemorrhage
subclass of: Restriction
  on property: treats
  some values from: Arthritis
subclass of: Restriction
  on property: treats
  some values from: Rheumatoid Arthritis
subclass of: Restriction
  on property: treats
  some values from: Cervical Cord Compression
subclass of: Restriction
  on property: treats
  some values from: Scoliosis
subclass of: Restriction
  on property: treats
  some values from: Spondylolisthesis
subclass of: Restriction
  on property: treats
  some values from: Facial Nerve Palsy
subclass of: Restriction
  on property: treats
  some values from: Sciatica
subclass of: Restriction
  on property: treats
  some values from: Hyperostosis
subclass of: Restriction
  on property: treats
  some values from: Ataxia
subclass of: Restriction
  on property: treats
  some values from: Agenesis of Corpus Callosum
subclass of: Restriction
  on property: treats
  some values from: Non-specific Acute Lower Respiratory Tract Episode
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
definition: A therapeutic intervention that remediates impairments and promotes mobility, function, and quality of life through examination, diagnosis, and physical intervention.
definition source: http://purl.obolibrary.org/obo/OAE_0002476
existence in other ontologies: Sufficient
previous identifier: SCDO:0000903
database cross reference: OAE:0002476
hasExactSynonym: Physical Therapy

Pilot Projects
type: Class
subclass of: Epidemiologic Study Characteristics
definition: Small-scale tests of methods and procedures to be used on a larger scale if the pilot study demonstrates that these methods and procedures can work.
definition source: http://purl.bioontology.org/ontology/MESH/D010865
existence in other ontologies: Sufficient
previous identifier: SCDO:0000905
database cross reference: MESH:D010865
hasExactSynonym: Pilot Study

Pneumatic Retinopexy
type: Class
subclass of: Ophthalmologic Surgical Procedure
definition: A nonincisional procedure that has become a well-accepted alternative to scleral buckling and vitrectomy for the repair of selected cases of rhegmatogenous retinal detachment.
curator note: Request inclusion into relevant ontology
definition source: http://emedicine.medscape.com/article/1844217-overview
existence in other ontologies: Few but definitions not freely available

Polymerase Chain Reaction
type: Class
subclass of: Genetic Technique
definition: The process in which a DNA polymerase is used to amplify a piece of DNA by in vitro enzymatic replication. As the process progresses, the DNA thus generated is itself used as a template for replication. This sets in motion a chain reaction in which the DNA template is exponentially amplified.
curator note: Suggest update to description in OBI
definition source: http://purl.obolibrary.org/obo/OBI_0000415
existence in other ontologies: Suggest update to description
database cross reference: OBI:0000415
hasExactSynonym: PCR

Pragmatic Clinical Trial
type: Class
subclass of: obsolete Randomized Controlled Trial
definition: 'Works about randomized clinical trials that compare interventions in clinical settings and which look at a range of effectiveness outcomes and impacts. [Curator team: []]'
definition source: http://purl.bioontology.org/ontology/MESH/D065007
database cross reference: MESH:D065007
deprecated: true

Prenatal Screening for Sickle Cell
type: Class
subclass of: Sickle Cell Disease Screening Test
definition: Prenatal detection of a fetus affected with Sickle Cell Disease using appropriate laboratory techniques. Detection of affected fetuses allows couples to make informed decisions regarding the pregnancy.
curator note: Request inclusion into relevant ontology. Perhaps in SNOMED CT below "Screening for sickle cell disease".
existence in other ontologies: None
creator: SCDO (Clair Ingram)

Preventative Therapeutics
type: Class
subclass of: Therapeutics
definition: Activities to prevent Sickle Cell Disease or its complications.
curator note: Probably too specific to SCD to be included in other ontologies. Consider making the description more generic (e.g. "Activities to prevent a disease or its complications.")
existence in other ontologies: None
creator: SCDO
hasExactSynonym: Preventive Therapeutics
hasExactSynonym: Prophylactic Therapeutics

Priapism
type: Class
subclass of: Abnormality of Reproductive System Physiology
subclass of: Acute Complications of Sickle Cell Disease
subclass of: Quality of Life Related SCD Symptoms and Complications
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A prolonged painful erection that may last hours and is not associated with sexual activity. It is seen in patients with sickle cell anemia, advanced malignancy, spinal trauma, and certain drug treatments.
definition source: http://purl.bioontology.org/ontology/MESH/D011317
existence in other ontologies: Sufficient
previous identifier: SCDO:0000923
database cross reference: MESH:D011317

Primary Healthcare
type: Class
subclass of: Health System
definition: Care which provides integrated, accessible health care services by clinicians who are accountable for addressing a large majority of personal health care needs, developing a sustained partnership with patients, and practicing in the context of family and community.
curator note: This term is not below Quality of Health Care in MESH, but below "Health Services Administration" ---> "Patient Care Management" ---> "Comprehensive Health Care
definition source: http://purl.bioontology.org/ontology/MESH/D011320
existence in other ontologies: Sufficient
previous identifier: SCDO:0000924
database cross reference: MESH:D011320
hasExactSynonym: Primary Care
hasExactSynonym: Primary Health Care

Proguanil
type: Class
subclass of: Malaria Chemoprophylaxis
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
definition: A biguanide compound which metabolizes in the body to form cycloguanil, an anti-malaria agent. Cycloguanil stops the malaria parasite, Plasmodium falciparum and Plasmodium vivax, from reproducing once it is in the red blood cells. It does this by inhibiting the enzyme, dihydrofolate reductase, which is involved in the reproduction of the parasite.
curator note: Suggest update to description in MESH
definition source: D002727
definition source: DB01131
existence in other ontologies: Suggest update to description
database cross reference: MESH:D002727
hasExactSynonym: 1-(P-Chlorophenyl)-5-isopropylbiguanide
hasExactSynonym: Chlorguanid
hasExactSynonym: Chlorguanide
hasExactSynonym: Chloroguanide
hasExactSynonym: N-(4-Chlorophenyl)-n'-(isopropyl)-imidodicarbonimidic diamide

Proliferative Sickle Retinopathy
type: Class
subclass of: Sickle Retinopathy
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Retinal Examination
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Slit-Lamp Examination
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Fluorescein Angiography
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
definition: Sickle retinopathy that involves the upregulation of vascular growth factors due to chronic changes of local hypoxia and ischemia.
curator note: Request inclusion into HPO below "Retinopathy/Sickle Retinopathy".
definition source: http://eyewiki.aao.org/Sickle_Cell_Retinopathy
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Retinopathy due to SCD Characterized by Neovascularization
hasExactSynonym: Sickle Cell Proliferative Retinopathy

PROMIS Adult Profile 29
type: Class
subclass of: Patient Reported Outcomes Measurement Information System (PROMIS)
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: This protocol includes 29 self-administered quality of life-type questions from the PROMIS Profile 29 for adults. The quality of life questions include physical function, anxiety, depression, fatigue, sleep disturbance, ability to participate in social roles and activities, and pain intensity over the past 7 days. Each question, except for the pain intensity question, is measured on a 5-point scale.
curator note: Suggest update to label in PhenX as we have done.
definition source: http://www.phenxtoolkit.org/index.php
has protocol: PhenX protocol: Quality of Life - Adult #221302
existence in other ontologies: Suggest update to label
hasExactSynonym: PROMIS 25 Profie v2.0

PROMIS Pediatric Profile 25
type: Class
subclass of: Patient Reported Outcomes Measurement Information System (PROMIS)
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: This protocol includes 25 quality of life-type questions relating to physical function mobility, anxiety, depressive symptoms, fatigue, peer relationships, pain interference, and pain intensity over the past 7 days.
curator note: Suggest update to label in PhenX as we have done.
definition source: http://www.phenxtoolkit.org/index.php
has protocol: PhenX protocol: Quality of Life - Pediatric #221301
existence in other ontologies: Suggest update to label
hasExactSynonym: PROMIS 25
hasExactSynonym: PROMIS 25 Profie

Infection Prophylaxis
type: Class
subclass of: Drug
subclass of: Preventative Therapeutics
subclass of: Restriction
  on property: treats
  some values from: Increased Susceptibility to Bacterial Infection
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A planned process that has the objective to reduce the risk of acquiring one or more infections.
existence in other ontologies: Few but definitions not freely available
dc:source: http://purl.obolibrary.org/obo/OGMS_0000103
hasExactSynonym: Disease Prevention

Prospective Studies
type: Class
subclass of: Cohort Studies
definition: Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.
definition source: http://purl.bioontology.org/ontology/MESH/D011446
existence in other ontologies: Sufficient
previous identifier: SCDO:0000931
database cross reference: MESH:D011446
hasExactSynonym: Prospective Study

Proteinuria
type: Class
subclass of: Abnormal Urine Homeostasis
subclass of: Restriction
  on property: treated with
  some values from: Angiotensin-Converting Enzyme Inhibitors
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Serum Creatinine Level
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urinary Protein Measurement
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urine Albumin Concentration
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urine Albumin Excretion Rate
subclass of: Restriction
  on property: diagnosed using measurement
  some values from: Urine Albumin-Creatinine Ratio
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
definition: Increased amounts of any protein (including albumin) in the urine - typically more than 300mg in a 24hr period.
curator note: Suggest update to description in HPO.
definition source: http://purl.obolibrary.org/obo/HP_0000093
has age of onset: In sickle cell disease, overt proteinuria (distinguised from albuminuria) may be noted in childhood although less common (4.5% in ages 2-21 [Wigfall 2000] v. 26% in adults [Guasch 2006]).
has disease stage: At most severe form - lead to nephrotic syndrome.
is caused by: Caused by a variety of kidney diseases, including sickle cell disease, diabetes, glomerular disease, arteriosclerosis.
is characterised by: Elevated amounts of protein in the urine - typically greater than 300mg in 24 hrs.
existence in other ontologies: Suggest update to description
dc:source: sickle-cell-disease-guidelines
database cross reference: HP:0000093
hasExactSynonym: High Urine Protein Levels
comment: Screening Recommendations: Screen all individuals with SCD, beginning by age 10, for proteinuria. If the result is negative, repeat screening annually. If the result is positive, perform a first morning void urine albumin-creatinine ratio and if abnormal, consult with or refer to a renal specialist.

Provider Attitudes Toward Patients with Sickle Cell Disease
type: Class
subclass of: Quality of Care Measure
definition: This is a 17-item scale, separated into 4 subscales with good psychometric properties. Negative Attitudes Scale comprises six items grouped together (Mean=36.5, SD=21.9, Potential range = 0 to 100). Higher scores on this scale indicate an endorsement of more negative views about SCD patients. Positive Attitudes Scale comprises four items grouped together (Mean=45.7, SD=24.3, Potential range = 0 to 100). Higher scores indicate an endorsement of more positive views about SCD patients. Concern Raising Behaviors Scale comprises four items grouped together (Mean = 53.7, SD = 22.0, Potential range = 0 to 100). Higher scores indicate greater endorsement of the belief that certain SCD patient behaviors raise clinician concern that the patient is inappropriately drug-seeking. Red-Flag Behaviors Scale comprises three items grouped together (Mean = 58.7, SD = 22.7, Potential range = 0 to 100). Higher scores on this scale indicate greater endorsement of the belief that certain SCD patient behaviors raise clinician concern about patient drug-seeking.
curator note: Request inclusion into NCIT below "Research or Clinical Assessment Tool".
definition source: Haywood, Jr., C., Lanzkron, S., Hughes, MD3, Brown, R., Massa, M., Ratanawongsa, N., and Beach, MC. (2010). A Video-Intervention to Improve Clinician Attitudes Toward Patients with Sickle Cell Disease: The Results of a Randomized Experiment. J Gen Intern Med 26(5):518–23.
has cross-cultural adaptation: African Americans
has respondents: Self
has target population: Heath care providers
selection criteria met: Demonstrated validity with SCD populations in the US
validated for age ranges: Adults
existence in other ontologies: None
dc:source: Haywood, Jr., C., Lanzkron, S., Hughes, MD3, Brown, R., Massa, M., Ratanawongsa, N., and Beach, MC. (2010). A Video-Intervention to Improve Clinician Attitudes Toward Patients with Sickle Cell Disease: The Results of a Randomized Experiment. J Gen Intern Med 26(5):518–23.

Pruritus
type: Class
subclass of: Cyanosis
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: Pruritus, or itch, is defined as an unpleasant sensation that provokes the desire to scratch.
curator note: Suggest update to description. The current description seems to be describing two different things in the same description.
definition source: HP_0000989
existence in other ontologies: Suggest update to description
database cross reference: HP:0000989
hasExactSynonym: Itchy Skin
hasExactSynonym: Skin Itching

Psychological Stress
type: Class
subclass of: Mental Health
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: Stress wherein emotional factors predominate.
definition source: D013315
existence in other ontologies: Sufficient
previous identifier: SCDO:0000937
database cross reference: MESH:D013315
hasExactSynonym: Emotional Stress
hasExactSynonym: Life Stress
hasExactSynonym: Psychological Suffering

Psychosocial Deprivation
type: Class
subclass of: Culture
subclass of: Mental Health
definition: The absence of appropriate stimuli in the physical or social environment which are necessary for the emotional, social, and intellectual development of the individual.
curator note: This term is placed below "Culture" in MESH.
definition source: http://purl.bioontology.org/ontology/MESH/D011610
existence in other ontologies: Sufficient
previous identifier: SCDO:0000938
database cross reference: MESH:D011610
hasExactSynonym: Psychosocial Deprivations

Psychotherapy
type: Class
subclass of: Supportive Therapeutics
subclass of: Restriction
  on property: treats
  some values from: Depression
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: A generic term for the treatment of mental illness or emotional disturbances primarily by verbal or nonverbal communication.
definition source: http://purl.bioontology.org/ontology/MESH/D011613
existence in other ontologies: Sufficient
previous identifier: SCDO:0000940
database cross reference: MESH:D011613
hasExactSynonym: Logotherapy
hasExactSynonym: Psycho-Therapy

obsolete Publication Type
type: Class
subclass of: obsolete Evidence Code
definition: 'Describes the type of material the article represents (e.g., Review, Clinical Trial, Retracted Publication, Letter); see the PubMed Publication Types, e.g., review[pt]. Publication Types are arranged hierarchically with more specific terms arranged beneath broader terms. [Curator team: []]'
definition source: http://bioportal.bioontology.org/ontologies/EDDA_PT
deprecated: true

Pulmonary Function Test
type: Class
subclass of: Physiological Assay
definition: Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc.
definition source: D012129
existence in other ontologies: Sufficient
previous identifier: SCDO:0000942
database cross reference: MESH:D012129
hasExactSynonym: Lung Function Test
hasExactSynonym: PFT
hasExactSynonym: Respiratory Function Test

Pulmonary Hypertension
type: Class
subclass of: Hypertension
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Personal Medical History
subclass of: Restriction
  on property: diagnosed using tool
  some values from: N-terminal Pro-brain Natriuretic Peptide Test
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Physical Examination
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: An elevation of mean pulmonary arterial systolic pressure (mPASP) (>20 mmHg at rest or >30 mmHg with exercise). The 6th World Symposium on PH reduced it from >25mmHg to >20mmHg for at rest, but did not adjust the definition for PH with exercise.
definition source: Br J Haematol. 2006 Jul;134(1):109-15.
definition source: Simonneau et al 2013 J Am Coll Cardiol; Ataga et al.
is caused by: Multifactorial, including chronic thromboembolism, splenectomy, high cardiac output, left-heart disease, and hyperviscosity; the role of an inactivation of nitric oxide by free plasma hemoglobin due to chronic hemolysis is controversial.
existence in other ontologies: Few but definitions not specific enough
dc:source: https://erj.ersjournals.com/content/53/1/1802148
hasExactSynonym: Increased Blood Pressure in Blood Vessels of Lungs
hasExactSynonym: Pulmonary Arterial Hypertension
comment: Pulmonary hypertension can be secondary to known cardiac, pulmonary, or hepatic disease. If no cause is identifiable, the term primary pulmonary hypertension is used.

Pulse Oximeter
type: Class
subclass of: Diagnostic Device
subclass of: Restriction
  on property: has output measurement
  some values from: Peripheral Oxygen Saturation
subclass of: Restriction
  on property: used by diagnostic tool
  some values from: Pulse Oximetry (Rest)
definition: A measurement device, usually attached to the earlobe or fingertip, that measures the oxygen saturation of arterial blood.
curator note: This consists of 2 parts, the "pulse oximeter monitor" and the "pulse oximeter probe". Perhaps can be included as sub-classes or siblings? See "Pulse Oximetry (Rest)" in PhenX.
definition source: http://purl.obolibrary.org/obo/ERO_0000876
existence in other ontologies: Sufficient
previous identifier: SCDO:0000944
database cross reference: ERO:0000876
hasExactSynonym: Blood Oxygen Monitor
hasExactSynonym: Oxygen Monitor

Pulse Oximetry (Rest)
type: Class
subclass of: Pulse Oximetry
subclass of: Restriction
  on property: uses diagnostic device
  some values from: Pulse Oximeter
subclass of: Restriction
  on property: measures
  some values from: Peripheral Oxygen Saturation
definition: The application of pulse oximetry to measure a patient's saturation of oxyhemoglobin when the patient is at rest.
curator note: Suggest update to description in PhenX Suggest inclusion of term below "Pulse Oximetry" in the CMO.
definition source: https://www.phenxtoolkit.org/protocols/view/91102
has protocol: PhenX protocol: Pulse Oximetry (Rest) #91102
existence in other ontologies: Suggest update to description
database cross reference: phenX:91102

Quality of Care Measure
type: Class
subclass of: Quality of Life and Care Measure
definition: The systemic measurement of the quality of health care that includes a broad set of perfomance measures such as the quality of services and the outcomes analysis for particular diseases and conditions, mortality and morbidity, patient safety, data on maternal and child health, as well as evaluation of quality of diagnosis, care accessibility, implementation of proven evidence-based practices, quality of reporting systems for errors and adverse events, reliability and accessibility of health and health care-related information, and health care organizations infrastructure.
curator note: Suggest update to description in EDDA (replace "excessability" with "accessibility".
definition source: http://bioportal.bioontology.org/ontologies/EDDA
existence in other ontologies: Suggest update to description
database cross reference: EDDA:health_care_quality_assessment
hasExactSynonym: Health Care Quality Assessment
hasExactSynonym: Quality of Health Care Assessment

Quality of Health Care
type: Class
subclass of: Quality of Life and Care
subclass of: Restriction
  on property: modifies
  some values from: Quality of Life
definition: The levels of excellence which characterize the health service or health care provided based on accepted standards of quality.
definition source: http://purl.bioontology.org/ontology/MESH/D011787
existence in other ontologies: Sufficient
previous identifier: SCDO:0000948
database cross reference: MESH:D011787
hasExactSynonym: Health Care Quality
hasExactSynonym: Healthcare Quality
hasExactSynonym: Quality of Healthcare

Quality of Life and Care
type: Class
subclass of: SCDO
definition: The subjective measurement of an individual's sense of well-being and ability to enjoy life, and the levels of excellence which characterize the health service or health care provided to individuals based on accepted standards of quality.
curator note: Request inclusion into relevant ontology. Include the term "Transition from pediatric care" somewhere...see the source provided here.
existence in other ontologies: None
creator: SCDO
dc:source: http://pediatrics.aappublications.org/content/130/5/926

Quality of Life and Care Measure
type: Class
subclass of: Quality of Life and Care
definition: A measurement tool that is useful in aiding routine clinical practice with regard to quality of life and/or quality of care.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Quality of Life and Care Measurement Scales

Quality of Life in Sickle Cell Disease Measure
type: Class
subclass of: Quality of Life Measure
subclass of: SCDO_1000297
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: modified by
  some values from: Chronic Sickle Cell Pain Management
subclass of: Restriction
  on property: modified by
  some values from: Phenotype of Sickle Cell Disease
subclass of: Restriction
  on property: modified by
  some values from: SCD Related Pain
subclass of: Restriction
  on property: modified by
  some values from: Sickle Cell Pain Management
definition: A questionnaire to assess the physical, emotional, and social impact of chronic conditions, such as sickle cell disease (SCD).
curator note: Suggest update to label in PhenX.
definition source: http://bioportal.bioontology.org/ontologies/PHENX
existence in other ontologies: Suggest update to label
database cross reference: phenX:820200
hasExactSynonym: Quality of Life in SCD

Quality of Life Measure
type: Class
subclass of: Quality of Life and Care Measure
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: A measurement tool with eight potential uses in aiding routine clinical practice. It can be used to prioritise problems, facilitate communication, screen for potential problems, identify preferences, monitor changes or response to treatment, and train new staff. It can also be used in clinical audit and in clinical governance. The first five of these can be used in the clinical encounter, while the last three contribute to training, reviewing care, and improving care in the future.
curator note: Request inclusion into relevant ontology
definition source: PMC1120388
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Quality of Life Related SCD Symptoms and Complications
type: Class
subclass of: Quality of Life
definition: Sickle cell symptoms where there is evidence of some relation with quality of life.
curator note: Probably too specific to be included in other ontologies.
existence in other ontologies: None
creator: SCDO

Quality-Adjusted Life Year (QALY)
type: Class
subclass of: Health Utility
subclass of: Quality of Life and Care Measure
definition: QALYs are used primarily to correct a person's life expectancy based on the levels of health-related quality of life they are predicted to experience throughout the course of their life, or part of it.
has cross-cultural adaptation: Multiple countries and cultural groups
has respondents: Self; Proxy
has target population: All
selection criteria met: Standard global assessment of health interventions, also used in SCD studies
validated for age ranges: Children and adults
freely available: no
existence in other ontologies: Few but definitions not specific enough
hasExactSynonym: QALY
hasExactSynonym: Quality-Adjusted Life Year
comment: The number of QALYs lived by an individual in one year is simply: QALYs lived in one year = 1 * Q with Q <= 1; where Q is the health-related quality of life weight attached to the relevant year of life. I.e. QALY assumes a utility value (quality of life) of 1 = perfect health and a utility value of 0 = dead: Years of Life x Utility Value = Number of QALYs. E.g. If a person lives in perfect health for one year, that person will have 1 QALY (1 Year of Life x 1 Utility Value = 1 QALY), If a person lives in perfect health but only for half a year, that person will have 0.5 QALYs (0.5 Years of Life x 1 Utility Value = 0.5 QALYs) OR if a person lives for 1 year in a situation with 0.5 utility (half of perfect health), that person will also have 0.5 QALYs (1 Year of Life x 0.5 Utility Value = 0.5 QALYs). In cost-effectiveness evaluations the QALY is used to quantify the effectiveness of, for instance, a new medication versus the current one. In other words, the current standard of care is taken as the baseline, and the QALYs gained from the new (improved) intervention are counted in addition.

obsolete Questionnaire
type: Class
subclass of: from diagnostics
definition: 'Collection of data obtained from voluntary subjects. The information usually takes the form of answers to questions, or suggestions. Predetermined sets of questions used to collect data - clinical data, social status, occupational group, etc. [Curator team: []]'
definition source: http://bioportal.bioontology.org/ontologies/MESH
database cross reference: MESH:D011795
deprecated: true

Radiography
type: Class
subclass of: Imaging Assay
subclass of: Restriction
  on property: uses diagnostic device
  some values from: X-Ray Machine
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Examination of any part of the body for diagnostic purposes by means of x-rays or gamma rays, recording the image on a sensitized surface (such as photographic film).
definition source: http://purl.bioontology.org/ontology/MESH/D011859
existence in other ontologies: Sufficient
previous identifier: SCDO:0000963
database cross reference: MESH:D011859
hasExactSynonym: Imaging by X-Ray
hasExactSynonym: X-Ray

Radionuclide Imaging
type: Class
subclass of: Imaging Assay
definition: The production of an image obtained by cameras that detect the radioactive emissions of an injected radionuclide as it has distributed differentially throughout tissues in the body. The image obtained from a moving detector is called a scan, while the image obtained from a stationary camera device is called a scintiphotograph.
definition source: http://purl.bioontology.org/ontology/MESH/D011877
existence in other ontologies: Sufficient
previous identifier: SCDO:0000964
database cross reference: MESH:D011877
hasExactSynonym: Imaging by Radionuclide
hasExactSynonym: Scintigraphy

obsolete Randomized Controlled Trial
type: Class
subclass of: obsolete Controlled Clinical Trial
definition: 'A work that reports on a clinical trial that involves at least one test treatment and one control treatment, concurrent enrollment and follow-up of the test- and control-treated groups, and in which the treatments to be administered are selected by a random process, such as the use of a random-numbers table. [Curator team: []]'
definition source: http://purl.bioontology.org/ontology/MESH/D016449
database cross reference: MESH:D016449
deprecated: true

Rapid Estimate of Adolescent Literacy in Medicine (REALM-Teen)
type: Class
subclass of: Quality of Life Measure
definition: The Rapid Estimate of Adolescent Literacy or REALM-Teen is a valid, reliable, easy-to-administer tool that will allow health professionals to screen youth in grades 6-12 for below-grade reading. The REALM-Teen is a reading recognition instrument, modeled after the Rapid Estimate of Adult Literacy in Medicine (REALM), the most commonly used tool to screen adults for low literacy in health care settings. The REALM-Teen is a reading recognition instrument which measures an individual's ability to pronounce words in ascending order of difficulty. All test words are commonly used adolescent health terms.
curator note: Request inclusion into NCIT below "Research or Clinical Assessment Tool". Add these annotation properties: -- has cross-cultural adaptation -- freely available -- has translations
definition source: Davis TC, Wolf MS, Arnold CL, Byrd RS, Long SW, Springer T, Kennen E, Bocchini JA. (2006). Development and validation of the Rapid Estimate of Adolescent Literacy in Medicine (REALM-Teen): a tool to screen adolescents for below-grade reading in health care settings. Pediatrics 118(6):e1707-14.
has respondents: Self
has target population: Adolescents with SCD
selection criteria met: Used in SCD studies
validated for age ranges: Adolescents
existence in other ontologies: None
dc:source: Davis TC, Wolf MS, Arnold CL, Byrd RS, Long SW, Springer T, Kennen E, Bocchini JA. (2006). Development and validation of the Rapid Estimate of Adolescent Literacy in Medicine (REALM-Teen): a tool to screen adolescents for below-grade reading in health care settings. Pediatrics 118(6):e1707-14.
hasExactSynonym: REALM-Teen
hasExactSynonym: Rapid Estimate of Adolescent Literacy in Medicine

Recovery and Recurrence Questionnaire (RRQ)
type: Class
subclass of: Functionality After Stroke Measure
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: A questionnaire that assesses recovery and recurrence of stroke in children. It is completed by a parent about their child.
curator note: Suggest update to description in PhenX.
definition source: http://www.phenxtoolkit.org/index.php
has protocol: PhenX protocol: Recovery and Recurrence Questionnaire (RRQ) - Pediatrics #820702
existence in other ontologies: Suggest update to description
database cross reference: phenX:820702
hasExactSynonym: RRQ
hasExactSynonym: Recovery and Recurrence Questionnaire (RRQ) - Pediatrics

Recurrent Wheeze in Sickle Cell Disease
type: Class
subclass of: Phenotype of Sickle Cell Disease
subclass of: Restriction
  on property: treated with
  some values from: Blood Transfusion
subclass of: Restriction
  on property: treated with
  some values from: Hydroxyurea
definition: Recurrent episodes of wheezing in persons with SCD who have no co-morbid asthma.
curator note: Probably too specific to warrant inclusion into anther ontology.
definition source: Glassberg et al 2014 Curr Opin Pediatr.
definition source: Knight-Madden et al 2014 Ped Resp Rev
is caused by: Likely related to inflammation of SCD.
is characterised by: Other markers of severity of SCD- eg complications of SCD, high LDH.
existence in other ontologies: None
hasExactSynonym: RWIS

Red Blood Cell Microparticles Level
type: Class
subclass of: Blood Chemistry Measurement
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Flow Cytometry
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: SCDO_1000314
definition: The amount of red blood cell derived microparticles in a specific volume of blood.
curator note: Request inclusion into relevant ontology More info can be taken from the dc:source provided. Perhaps add MeSH term "Cell-Derived Microparticles" as a superclass of this term?
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
dc:source: PMC3678264
hasBroadSynonym: Cell-Derived Microparticles
hasExactSynonym: EMP Level
hasExactSynonym: Erythrocyte-Derived Microparticles Level
hasExactSynonym: Level of Red Blood Cell Microparticles
hasExactSynonym: RBC Microparticles Level
hasExactSynonym: Red Blood Cell Derived Microparticles Level

Reduced Hemoglobin A
type: Class
subclass of: Decreased Hemoglobin Concentration
subclass of: Altered Level of Normal Hemoglobin in SCD
subclass of: Restriction
  on property: caused by
  some values from: Alpha Thalassemia
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: Alpha Thalassemia
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: Beta Thalassemia Mutation
definition: Hemoglobin A (HbA) contains two alpha-globin chains and two beta-globin chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decrease in the proportion of HbA below this limit, and can be seen in various forms of thalassemia.
curator note: Suggest update to description in HPO.
definition source: http://purl.obolibrary.org/obo/HP_0011905
existence in other ontologies: Suggest update to description
database cross reference: HP:0011905

Rehabilitation
type: Class
subclass of: Supportive Therapeutics
definition: Restoration of human functions to the maximum degree possible in a person or persons suffering from disease or injury.
definition source: http://purl.bioontology.org/ontology/MESH/D012046
existence in other ontologies: Sufficient
previous identifier: SCDO:0000978
database cross reference: MESH:D012046
hasExactSynonym: Habilitation

Reincarnation
type: Class
subclass of: Beliefs About Causes of Illness
definition: Reincarnation is the philosophical or religious concept that an aspect of a living being starts a new life in a different physical body or form after each biological death.
curator note: Request inclusion into relevant ontology
definition source: http://en.wikipedia.org/wiki/Reincarnation
existence in other ontologies: None
creator: SCDO
hasExactSynonym: Rebirth
hasExactSynonym: Transmigration

Religion
type: Class
subclass of: Personal Attribute
subclass of: Culture
definition: A set of beliefs concerning the nature, cause, and purpose of the universe, especially when considered as the creation of a superhuman agency. It usually involves devotional and ritual observances and often a moral code for the conduct of human affairs.
definition source: http://purl.bioontology.org/ontology/MESH/D012067
existence in other ontologies: Sufficient
previous identifier: SCDO:0000981
database cross reference: MESH:D012067
hasExactSynonym: Religious Beliefs
hasExactSynonym: Religious Ethics

Renal Dialysis
type: Class
subclass of: Renal Replacement Therapy
subclass of: Restriction
  on property: treats
  some values from: Encephalopathy
subclass of: Restriction
  on property: treats
  some values from: Acute Kidney Injury
subclass of: Restriction
  on property: treats
  some values from: Azotaemia
subclass of: Restriction
  on property: treats
  some values from: Myoglobinuria
subclass of: Restriction
  on property: treats
  some values from: End Stage Kidney Disease
subclass of: Restriction
  on property: treats
  some values from: Acute Tubular Necrosis
subclass of: Restriction
  on property: treats
  some values from: Chronic Kidney Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Therapy for the insufficient cleansing of the BLOOD by the kidneys based on dialysis and including hemodialysis, peritoneal dialysis, and hemodiafiltration.
curator note: Include types of renal dialysis as sub-classes: -- Peritoneal dialysis -- Hemodialysis -- Pediatric dialysis? -- Hemofiltration -- Hemodiafiltration
definition source: http://purl.bioontology.org/ontology/MESH/D006435
existence in other ontologies: Sufficient
previous identifier: SCDO:0000983
database cross reference: MESH:D006435
hasExactSynonym: Dialyses, Renal
hasExactSynonym: Extracorporeal Dialyses
hasExactSynonym: Extracorporeal Dialysis
hasExactSynonym: Haemodialysis
hasExactSynonym: Hemodialyses
hasExactSynonym: Renal Dialyses

Renal Ischemia
type: Class
subclass of: Abnormality of the Kidney
subclass of: Ischemia
subclass of: SCDO_1000383
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Personal Medical History
subclass of: Restriction
  on property: treated with
  some values from: Supportive Therapeutics
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: Inadequate blood flow to one or both kidneys, or nephrons, usually due to functional constriction or actual obstruction of blood vessels.
curator note: Suggest update to description in Mammalian Phenotype ontology. Provide source for additional info.
definition source: MP_0011758
is caused by: Loss of adequate blood flow may be due to obstruction of blood vessels - large or small or due to low flow states such as prolonged hypotension.
is characterised by: Usually associated with kidney injury as noted by decrease in urine output and/or elevation in serum creatinine.
existence in other ontologies: Suggest update to description
database cross reference: MP:0011758
hasExactSynonym: Kidney Ischaemia
hasExactSynonym: Kidney Ischemia
hasExactSynonym: Nephric Ischaemia
hasExactSynonym: Nephric Ischemia
hasExactSynonym: Renal Ischaemia

Renal Transplant
type: Class
subclass of: Renal Replacement Therapy
subclass of: Restriction
  on property: treats
  some values from: End Stage Kidney Disease
subclass of: Restriction
  on property: treats
  some values from: Chronic Kidney Disease
definition: The transference of a kidney from one human or animal to another.
definition source: http://purl.bioontology.org/ontology/MESH/D016030
existence in other ontologies: Sufficient
previous identifier: SCDO:0000985
database cross reference: MESH:D016030
hasExactSynonym: Kidney Grafting
hasExactSynonym: Kidney Transplant
hasExactSynonym: Kidney Transplantation
hasExactSynonym: Kidney Transplantations
hasExactSynonym: Renal Transplantation
hasExactSynonym: Renal Transplantations

Renal Tubular Acidosis
type: Class
subclass of: Abnormality of the Kidney
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia.
curator note: Suggest update to description in HPO. Provide source for additional info.
definition source: HP_0001947
has disease stage: Has multiple types - Type 1 (Distal RTA), Type 2 (Proximal RTA), Type 4 (Hyperkalemic RTA). Sickle cell disease may demonstrate a voltage dependent Type 1 RTA.
is caused by: Defects in the kidneys in reabsorption of bicarbonate (HCO3), the excretion of hydrogen ions (H+), or both.
is characterised by: A relatively normal GFR and a metabolic acidosis accompanied by hyperchloremia and a normal plasma anion gap.
existence in other ontologies: Suggest update to description
database cross reference: HP:0001947
hasExactSynonym: Accumulation of Acid in Body Due to Kidney Problem
hasExactSynonym: RTA

Reproductive History Diagnostic Instrument
type: Class
subclass of: Clinical or Research Assessment Questionnaire
subclass of: Diagnostic Instrument
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
definition: A questionnaire to assess either male or females' pregnancy history. Females are asked about the number of pregnancies, description of pregnancies and smoking during pregnancy. Males are asked whether they have ever fathered a pregnancy and, if so, the description of the pregnancy.
curator note: Suggest update to labels of as we have done. We are using "Reproductive History" below Personal Attribute. Also suggest update to description as we have done.
definition source: details
existence in other ontologies: Suggest update to label and description
database cross reference: phenX:101300

deprecated Reproductive System
type: Class
subclass of: from phenotype
definition: 'Anatomical system that has as its parts the organs concerned with reproduction. [Curator team: []]'
term replaced by: SCDO_1000263
definition source: http://purl.obolibrary.org/obo/UBERON_0000990
database cross reference: UBERON:0000990
deprecated: true

obsolete Research Activity
type: Class
subclass of: from personal attribute
definition: 'Systematic investigation into a subject in order to discover facts, establish or revise a theory, or develop a plan of action based on the facts discovered. [Curator team: []]'
curator note: Consider other sub-classes of this in NCIT.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C15429
deprecated: true

Respiratory Rate
type: Class
subclass of: Respiratory System Measurement
subclass of: Restriction
  on property: has possible finding
  some values from: Bradypnea
subclass of: Restriction
  on property: has possible finding
  some values from: Tachypnea
definition: The number of times an organism breathes with the lungs (respiration) per unit time, usually per minute.
definition source: D056152
existence in other ontologies: Sufficient
previous identifier: SCDO:0000993
database cross reference: MESH:D056152
hasExactSynonym: Breathing Frequency
hasExactSynonym: Pulmonary Ventilation Rate
hasExactSynonym: Respiration Rate

deprecated Respiratory System
type: Class
subclass of: from phenotype
definition: Lungs and respiratory system of the body.
term replaced by: SCDO_0004899
hasExactSynonym: Pulmonary System
deprecated: true

SCDO
type: Class
subclass of: Thing
definition: Root of all terms in the Sickle Cell Disease Ontology, an effort of unambiguously describing all concepts and unifying up-to-date knowledge in sickle cell disease.
existence in other ontologies: None
creator: SCDO (Gaston K. Mazandu)
hasExactSynonym: Sickle Cell Disease Ontology

Restriction Fragment Length Polymorphism PCR
type: Class
subclass of: Polymerase Chain Reaction
definition: PCR-restriction fragment length polymorphism (RFLP)-based analysis, also known as cleaved amplified polymorphic sequence (CAPS), is a popular technique for genetic analysis. It has been applied for the detection of intraspecies as well as interspecies variation. There exist several techniques that are related with PCR-RFLP and also involve gel electrophoresis including techniques for DNA fingerprinting and expression profiling.
curator note: Request inclusion into relevant ontology.
definition source: Henrik Berg Rasmussen (April 4th 2012). Restriction Fragment Length Polymorphism Analysis of PCR-Amplified Fragments (PCR-RFLP) and Gel Electrophoresis - Valuable Tool for Genotyping and Genetic Fingerprinting, Gel Electrophoresis Sameh Magdeldin, IntechOpen, DOI: 10.5772/37724. Available from: https://www.intechopen.com/books/gel-electrophoresis-principles-and-basics/restriction-fragment-length-polymorphism-analysis-of-pcr-amplified-fragments-pcr-rflp-and-related-te
existence in other ontologies: Few but definitions not freely available
hasExactSynonym: PCR-RFLP
hasExactSynonym: Restriction Fragment Length Polymorphism - Polymerase Chain Reaction

Reticulocyte Count
type: Class
subclass of: Red Blood Cell Count
subclass of: Restriction
  on property: has essential measure
  some values from: Ethnic Group
subclass of: Restriction
  on property: has essential measure
  some values from: Race
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: SCDO_1000686
subclass of: Restriction
  on property: has possible finding
  some values from: Reticulocytopenia
subclass of: Restriction
  on property: has possible finding
  some values from: Reticulocytosis
subclass of: Restriction
  on property: has possible finding
  some values from: SCDO_1000834
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: The number of reticulocytes per unit volume of blood. The values are expressed as a percentage of the erythrocyte count or in the form of an index ("corrected reticulocyte index"), which attempts to account for the number of circulating erythrocytes.
definition source: D017701
has protocol: PhenX protocol: Reticulocyte Count #810601
existence in other ontologies: Sufficient
previous identifier: SCDO:0001004
database cross reference: MESH:D017701
hasExactSynonym: Reticulocyte Number

Reticulocyte Count by Hematology Analyzer
type: Class
subclass of: Reticulocyte Count
definition: A reticulocyte count that was performed with an electronic haematology analyzer.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Reticulocyte Count by Microsocopy
type: Class
subclass of: Reticulocyte Count
definition: A reticulocyte count that was performed with microscopy.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Retinal Cryopexy
type: Class
subclass of: Ophthalmologic Surgical Procedure
definition: A procedure that uses intense cold to induce a chorioretinal scar and to destroy retinal or choroidal tissue.
curator note: Request inclusion into relevant ontology
definition source: http://www.surgeryencyclopedia.com/Pa-St/Retinal-Cryopexy.html
existence in other ontologies: None
hasExactSynonym: Retinal Cryotherapy

Retinal Detachment
type: Class
subclass of: Abnormality of the Eye
subclass of: Ophthalmologic Complication
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Retinal Examination
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Slit-Lamp Examination
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Ophthalmoscopy
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Separation of the retina from the choroid and eye wall due to holes in the retina and traction on the retina by vitreous bands and condensed preretinal membranes (usually as sequelae of proliferative sickle retinopathy). Retinal detachment is the most severe complication (Stage V) of proliferative sickle retinopathy.
curator note: We provided a more SCD specific description than the generic descriptions provided in existing ontologies.
definition source: Ballas et al 2010 Am J Hematol
existence in other ontologies: Not relevant to context of sickle cell

Retrospective Studies
type: Class
subclass of: Cohort Studies
definition: Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
definition source: http://purl.bioontology.org/ontology/MESH/D012189
existence in other ontologies: Sufficient
previous identifier: SCDO:0001010
database cross reference: MESH:D012189
hasExactSynonym: Retrospective Study

Rural Location
type: Class
subclass of: Geographic Location
subclass of: Healthcare Access
definition: An open swath of land that has few homes or other buildings, and not very many people.
curator note: Request inclusion into relevant ontology
definition source: rural-area
existence in other ontologies: None
hasExactSynonym: Rural
hasExactSynonym: Rural Area
hasExactSynonym: Rural Setting

Salmon Patch Hemorrhage
type: Class
subclass of: Abnormality of the Eye
subclass of: Ophthalmologic Complication
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Slit-Lamp Examination
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Ophthalmoscopy
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: Round or oval-shaped intraretinal accumulation of erythrocytes that may be up to 2 mm in diameter. This small intraretinal hematoma is initially red and becomes salmon colored with time.
curator note: Request inclusion into relevant ontology.
definition source: Ballas et al 2010 Am J Hematol
existence in other ontologies: None
hasExactSynonym: Salmon Patch Hemorrhages

Sampling Studies
type: Class
subclass of: Epidemiologic Studies
definition: Studies in which a number of subjects are selected from all subjects in a defined population. Conclusions based on sample results may be attributed only to the population sampled.
definition source: http://purl.bioontology.org/ontology/MESH/D012494
existence in other ontologies: Sufficient
previous identifier: SCDO:0001020
database cross reference: MESH:D012494
hasExactSynonym: Probability Sample
hasExactSynonym: Probability Samples
hasExactSynonym: Sampling Study

SCD Related Pain
type: Class
subclass of: Pain
subclass of: Phenotype of Sickle Cell Disease
subclass of: Quality of Life Related SCD Symptoms and Complications
subclass of: Restriction
  on property: modifies
  some values from: Quality of Life in Sickle Cell Disease Measure
subclass of: Restriction
  on property: caused by
  some values from: Sickle Cell Disease
definition: Pain resulting from the presence of Sickle Cell Disease (SCD). Such pain can be acute, chronic or a mixture of the two.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO
dc:source: Okpala I., Tawil A. Management of pain in sickle-cell disease. Journal of the Royal Society of Medicine. 2002;95(9):456-458. doi: 10.1258/jrsm.95.9.456
hasExactSynonym: SCD Pain
hasExactSynonym: SCD-Related Pain

Scleral Buckling
type: Class
subclass of: Ophthalmologic Surgical Procedure
definition: An operation for retinal detachment which reduces the size of the globe by indenting the sclera so that it approximates the retina.
definition source: http://purl.bioontology.org/ontology/MESH/D012591
existence in other ontologies: Sufficient
previous identifier: SCDO:0001025
database cross reference: MESH:D012591
hasExactSynonym: Scleral Buckle Surgery
hasExactSynonym: Scleral Bucklings

Secondary Healthcare
type: Class
subclass of: Health System
definition: Specialized healthcare delivered as a follow-up or referral from a primary care provider.
definition source: http://purl.bioontology.org/ontology/MESH/D063127
existence in other ontologies: Sufficient
previous identifier: SCDO:0001027
database cross reference: MESH:D063127
hasExactSynonym: Secondary Care
hasExactSynonym: Secondary Health Care

Sedentary Lifestyle
type: Class
subclass of: Lifestyle
definition: Usual level of physical activity that is less than 30 minutes of moderate-intensity activity on most days of the week.
definition source: http://purl.bioontology.org/ontology/MESH/D057185
existence in other ontologies: Sufficient
previous identifier: SCDO:0001029
database cross reference: MESH:D057185

Self Care
type: Class
subclass of: Rehabilitation
definition: Caring for self when ill or positive actions and adopting behaviors to prevent illness.
definition source: http://purl.bioontology.org/ontology/MESH/D012648
existence in other ontologies: Sufficient
previous identifier: SCDO:0001034
database cross reference: MESH:D012648
hasExactSynonym: Self Management
hasExactSynonym: Self-Care
hasExactSynonym: Self-Management

Self Efficacy
type: Class
subclass of: Coping Skill
definition: Cognitive mechanism based on expectations or beliefs about one's ability to perform actions necessary to produce a given effect.
definition source: D020377
existence in other ontologies: Sufficient
previous identifier: SCDO:0001035
database cross reference: MESH:D020377
hasExactSynonym: Self-Concept

Self-Reported Weight
type: Class
subclass of: Body Weight
definition: The weight in kilograms or pounds as reported by the participant.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Seroepidemiologic Studies
type: Class
subclass of: Epidemiologic Studies
definition: Epidemiologic studies based on the detection through serological testing of characteristic change in the serum level of specific antibodies. Latent subclinical infections and carrier states can thus be detected in addition to clinically overt cases.
definition source: http://purl.bioontology.org/ontology/MESH/D016036
existence in other ontologies: Sufficient
previous identifier: SCDO:0001041
database cross reference: MESH:D016036
hasExactSynonym: Seroprevalences

Serum HDL Cholesterol Level
type: Class
subclass of: Blood Chemistry Measurement
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: SCDO_1000315
definition: The amount of the HDL cholesterol, the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion, in a specified volume of serum.
curator note: Request inclusion into relevant ontology
definition source: VT_0000184
existence in other ontologies: Few but definitions not freely available
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Blood HDL Cholesterol Amount
hasExactSynonym: Blood High Density Lipoprotein Cholesterol Amount
hasExactSynonym: Circulating HDL Cholesterol Amount
hasExactSynonym: Circulating HDL Cholesterol Level
hasExactSynonym: HDL Cholesterol Level
hasExactSynonym: HDL Level

SF-36v2 Health Survey
type: Class
subclass of: Quality of Life Measure
definition: A 36-item instrument for measuring health status and outcomes via patient self-report. It is designed for use in surveys of general and specific populations, health policy evaluations, and clinical practice and research. The SF-36v2 measures the following eight health concepts, which are relevant across age, disease, and treatment groups: physical functioning, role limitations due to physical health problems, bodily pain, general health, vitality (energy/fatigue), social functioning, role limitations due to emotional problems, and mental health (psychological distress and psychological well-being). Both standard (4-week) and acute (1-week) recall versions are available. The survey's standardized scoring system yields a profile of eight health scores and two summary measures (physical and mental health) and a self-evaluated change in health status.
curator note: Add these annotation properties: -- has cross-cultural adaptation -- freely available -- has translations
curator note: Suggest update to label in PhenX (from "Physical, Social, and Mental Health Functioning (SF-36V2)")
definition source: https://www.phenxtoolkit.org/protocols/view/191201
has protocol: PhenX protocol: #191201
has respondents: Self
has target population: Healthy people; Clinic patients
selection criteria met: Demonstrated validity with SCD populations; multiple publications using the measure in SCD; very widely used with healthy populations and those with chronic conditions
validated for age ranges: Adults 18 years and older
existence in other ontologies: Suggest update to label

Sickle Cell Disease Health-Related Stigma Scale (SCD-HRSS)
type: Class
subclass of: Quality of Life Measure
definition: A measure of stigma among adults living with Sickle Cell disease. Focus on; depressive symptoms, pain, assertive communication, satisfaction with pain management experience, and health-related stigma.
curator note: Request inclusion into NCIT below "Research or Clinical Assessment Tool". Add these annotation properties: -- has respondents -- has target population -- selection criteria met -- validated for age ranges -- has cross-cultural adaptation -- freely available -- has translations
definition source: Jenerette C, Brewer CA, Crandell J, Ataga KI. Preliminary validity and reliability of the Sickle Cell Disease Health-Related Stigma Scale.Issues Ment Health Nurs.2012 Jun;33(6):363-9.
existence in other ontologies: None
dc:source: Jenerette C, Brewer CA, Crandell J, Ataga KI. Preliminary validity and reliability of the Sickle Cell Disease Health-Related Stigma Scale.Issues Ment Health Nurs.2012 Jun;33(6):363-9.
hasExactSynonym: SCD-HRSS
hasExactSynonym: Sickle Cell Disease Health-Related Stigma Scale

Sickle Cell Disease Pain Burden Interview - Youth
type: Class
subclass of: Quality of Life Measure
definition: The SCPBI-Y is a brief clinical interview designed to assess pain burden for children and adolescents with SCD.
curator note: Request inclusion into NCIT below "Research or Clinical Assessment Tool". Add these annotation properties: -- has respondents -- has target population -- selection criteria met -- validated for age ranges -- has cross-cultural adaptation -- freely available -- has translations
definition source: Zempsky WT, O'Hara EA, Santanelli JP, Palermo TM, New T, Smith-Whitley K, Casella JF. Validation of the sickle cell disease pain burden interview-youth. J Pain. 2013 Sep;14(9):975-82.
existence in other ontologies: None
hasExactSynonym: SCPBI-Y

Sickle Cell Disease Screening Test
type: Class
subclass of: Mutation Carrier Screening
definition: Sickle cell tests are used to help diagnose sickle cell anemia (also called sickle cell disease) and to identify those who may have sickle cell trait. Sickle cell anemia is an inherited disorder that leads to the production of an abnormal hemoglobin called hemoglobin S (Hb S or Hgb S). Sickle cell tests determine the presence and relative amount of hemoglobin S in a blood sample.
curator note: Request inclusion into relevant ontology
definition source: https://labtestsonline.org/tests/sickle-cell-tests
existence in other ontologies: Few but definitions not freely available
hasExactSynonym: Screening for Sickle Cell Disease

Sickle Cell Disease Self-Efficacy Scale
type: Class
subclass of: Quality of Life Measure
subclass of: SCDO_1000297
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: A nine-item self-administered questionnaire that measures disease-specific perceptions of the ability to manage day-to-day issues resulting from sickle cell disease (SCD). Items are scores according to a five-point scale ranging from 1 - Not sure at all to 5 - Very sure. Responses from individual items are summed to give an overall score with higher scores indicating greater self-efficacy.
curator note: Suggest update to label in PhenX as we have done.
definition source: https://www.phenxtoolkit.org/protocols/view/820401
has protocol: PhenX protocol: Self-efficacy in Sickle Cell Disease #820401
has respondents: Self
has target population: Clinic Patients (Adults with SCD)
has_application_toward: Self-efficacy, or one’s perceptions that they can exercise control over their behaviors and environment, may play an important role in determining the ability to adjust to chronic conditions such as sickle cell disease (SCD).
validated for age ranges: 18 and older
existence in other ontologies: Suggest update to label
dc:source: https://www.phenxtoolkit.org/protocols/view/820401
hasExactSynonym: Scale of Self-efficacy in Sickle Cell Disease

Variant Sickle Cell Syndrome
type: Class
subclass of: Sickle Cell Disease
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Genetic Testing
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Smear
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Hemoglobin Profile Assay
definition: A variant form of sickle cell disease that results from inheriting the sickle mutation in combination with another beta-globin gene mutation. These hemoglobinopathies may have different clinical severity compared to the homozygous form of sickle cell disease (HbSS).
curator note: Request inclusion into relevant ontology
definition source: http://www.uptodate.com/contents/overview-of-variant-sickle-cell-syndromes
existence in other ontologies: None
hasExactSynonym: SCD Variant
hasExactSynonym: Sickle Cell Disease Variant
hasExactSynonym: Variant Sickle Cell Syndromes

Sickle Cell Pain Management
type: Class
subclass of: Symptomatic Therapeutics
subclass of: Restriction
  on property: modifies
  some values from: Quality of Life in Sickle Cell Disease Measure
definition: A form of therapy that employs a coordinated and interdisciplinary approach for easing the suffering and improving the quality of life of those experiencing sickle cell related pain.
curator note: Request inclusion into MESH below "Pain Management".
definition source: http://purl.bioontology.org/ontology/MESH/D059408
existence in other ontologies: None
creator: SCDO
hasExactSynonym: Sickle Cell Pain Managements

Sickle Cell Painful Event
type: Class
subclass of: SCD Related Pain
definition: Pain lasting at least two hours that requires an unscheduled emergency room visit or hospitalization or that disrupts daily activities.
curator note: Could be categorised as a phenotype "Finding".
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO
dc:source: http://www.phenxtoolkit.org/index.php
hasExactSynonym: Pain Episode
hasExactSynonym: Painful Crisis
hasExactSynonym: Painful Event
hasExactSynonym: Sickle Cell Acute Pain Episode
hasExactSynonym: Sickle Cell Pain Episode

Sickle Cell Related Cancer
type: Class
subclass of: Cancer
definition: A cancer that is almost exclusively associated with sickle cell trait and/or sickle cell disease.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
dc:source: SCDO (Jade Hotchkiss)
hasExactSynonym: Sickle Cell Associated Cancer

Sickle Cell Trait
type: Class
subclass of: Hemoglobin Trait
subclass of: Restriction
  on property: has clinical code
  some values from: D57.3 Sickle-cell trait
subclass of: Restriction
  on property: has causal genotype
  some values from: Hemoglobin Genotype AS
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has manifestation
  some values from: Hyposthenuria
subclass of: Restriction
  on property: has manifestation
  some values from: Isosthenuria
subclass of: Restriction
  on property: has manifestation
  some values from: Hematuria
subclass of: Restriction
  on property: has manifestation
  some values from: Renal Medullary Carcinoma
subclass of: Restriction
  on property: has manifestation
  some values from: Splenic Infarction
subclass of: Restriction
  on property: has manifestation
  some values from: Renal Papillary Necrosis
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Adult Hemoglobin
definition: The condition of being heterozygous for hemoglobin S.
definition source: http://purl.bioontology.org/ontology/MESH/D012805
existence in other ontologies: Sufficient
previous identifier: SCDO:0001055
database cross reference: MESH:D012805
hasExactSynonym: AS Genotype
hasExactSynonym: Haemoglobin Genotype AS
hasExactSynonym: Hemoglobin Genotype AS

Sickle Cell Disease-S Beta Minus Thalassemia
type: Class
subclass of: Sickle Beta Thalassemia
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Genetic Testing
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Smear
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Hemoglobin Profile Assay
subclass of: Restriction
  on property: treated with
  some values from: Ibuprofen
subclass of: Restriction
  on property: treated with
  some values from: Acetaminophen
subclass of: Restriction
  on property: has mode of inheritance
  some values from: SCDO_1000243
subclass of: Restriction
  on property: has causal genotype
  some values from: Hemoglobin Genotype S/Beta Minus Thalassaemia
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: Beta-Minus Thalassemia Mutation
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has manifestation
  some values from: Acute Chest Syndrome
subclass of: Restriction
  on property: has manifestation
  some values from: Splenomegaly
subclass of: Restriction
  on property: has manifestation
  some values from: Stroke
subclass of: Restriction
  on property: has manifestation
  some values from: Splenic Infarction
subclass of: Restriction
  on property: has manifestation
  some values from: Hypersplenism
subclass of: Restriction
  on property: has manifestation
  some values from: Splenic Sequestration
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Reduced Beta/Alpha Synthesis Ratio
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Reduced Hemoglobin A
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
definition: A mild form of sickle cell thalassemia characterized by the presence of hemoglobin S and a reduced amount of hemoglobin A in the red blood cells. It is characterized by the presence of small red blood cells and mild anemia.
curator note: Suggest update to label in NCIT from "Sickle Beta Plus Thalassemia" to "Sickle Beta Minus Thalassemia"
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
existence in other ontologies: Suggest update to label
database cross reference: NCIT:C98837
hasExactSynonym: S beta-minus
hasExactSynonym: Sickle B- Thalassemia
hasExactSynonym: Sickle Beta Minus Thalassemia
hasExactSynonym: Sickle Cell Disease-S Beta Minus Thalassemia
hasExactSynonym: Sickle Cell-B- Thalassemia
hasExactSynonym: Sickle Cell-Beta Minus Thalassemia

Sickle Cell Disease-SC
type: Class
subclass of: Structural Hemoglobinopathy
subclass of: SCDO_1000163
subclass of: Restriction
  on property: has clinical code
  some values from: D57.2 Sickle-cell/Hb-C disease
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Genetic Testing
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Smear
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Hemoglobin Profile Assay
subclass of: Restriction
  on property: has mode of inheritance
  some values from: SCDO_1000243
subclass of: Restriction
  on property: has causal genotype
  some values from: Hemoglobin Genotype SC
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6LYS
subclass of: Restriction
  on property: has manifestation
  some values from: Severe Anemia
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin C
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia.
definition source: http://purl.bioontology.org/ontology/MESH/D006450
existence in other ontologies: Sufficient
previous identifier: SCDO:0001059
database cross reference: MESH:D006450
hasExactSynonym: Hb SC-disease
hasExactSynonym: Hemoglobin S / Hemoglobin C Disease
hasExactSynonym: Hemoglobin SC Disease
hasExactSynonym: SC Disease
hasExactSynonym: Sickle Cell Disease SC
hasExactSynonym: Sickle Cell Hemoglobin C Disease
hasExactSynonym: Sickle Cell-Haemoglobin C Disease
hasExactSynonym: Sickle Cell-Hemoglobin C Disease
hasExactSynonym: Sickle-Cell/Hb-C Disease

Sickle Cell Disease-S/D-Punjab
type: Class
subclass of: Sickle Cell Disease-SD
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Genetic Testing
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Smear
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Hemoglobin Profile Assay
subclass of: Restriction
  on property: has mode of inheritance
  some values from: SCDO_1000243
subclass of: Restriction
  on property: has causal genotype
  some values from: Hemoglobin Genotype S/D-Punjab
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU121GLN
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin D-Punjab
definition: A rare compound heterozygous hemoglobinopathy characterised by the presence of two beta globin gene variants: that of hemoglobin S (beta-6(GAG-->GTG)) and that of hemoglobin D-Punjab (beta-121(GAA-->CAA)).
curator note: Request inclusion into relevant ontology. Perhaps as sub-class of "Sickle Cell-Hemoglobin D Disease" in the NCIT.
definition source: Rahimah Ahmad*, Syahira Lazira Omar*, Siti Hida H M Arif*, Faidatul Syazlin A Hamid*, Nur Aisyah Aziz*, Nik Hafidzah N Mustapha**, Zubaidah Zakaria*Haemoglobin Sickle D Punjab: - A Case Report. Med J Malaysia. 2014. Vol 69 No 1.
existence in other ontologies: Few but definitions not freely available
dc:source: D1064
hasExactSynonym: Haemoglobin S/D-Punjab
hasExactSynonym: Hemoglobin S/D-Punjab
hasExactSynonym: Sickle Cell-Haemoglobin D-Punjab
hasExactSynonym: Sickle Cell-Hemoglobin D-Punjab Disease

Sickle Cell Disease-SE
type: Class
subclass of: Structural Hemoglobinopathy
subclass of: SCDO_1000163
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Genetic Testing
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Electrophoresis
subclass of: Restriction
  on property: has mode of inheritance
  some values from: SCDO_1000243
subclass of: Restriction
  on property: has causal genotype
  some values from: Hemoglobin Genotype SE
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU26LYS
subclass of: Restriction
  on property: has manifestation
  some values from: Acute Chest Syndrome
subclass of: Restriction
  on property: has manifestation
  some values from: Cholelithiasis
subclass of: Restriction
  on property: has manifestation
  some values from: Splenomegaly
subclass of: Restriction
  on property: has manifestation
  some values from: Anemia
subclass of: Restriction
  on property: has manifestation
  some values from: Osteonecrosis
subclass of: Restriction
  on property: has manifestation
  some values from: Osteonecrosis of the Femoral Head
subclass of: Restriction
  on property: has manifestation
  some values from: Hematuria
subclass of: Restriction
  on property: has manifestation
  some values from: Pain
subclass of: Restriction
  on property: has manifestation
  some values from: Sickle Retinopathy
subclass of: Restriction
  on property: has manifestation
  some values from: Splenic Infarction
subclass of: Restriction
  on property: has manifestation
  some values from: Splenic Sequestration
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin E
definition: A variant of sickle cell disease due to heterozygosity for hemoglobin S and hemoglobin E mutations, which can cause mild hemolytic anemia.
curator note: Suggest update to description of "Sickle Cell-Hemoglobin D Disease" in the NCIT.
definition source: http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hb-F-S-E
existence in other ontologies: Few but definitions not specific enough
hasExactSynonym: Hb SE-Disease
hasExactSynonym: Hemoglobin SE Disease
hasExactSynonym: Hemoglobin SE-Disease
hasExactSynonym: Sickle Cell Disease SE
hasExactSynonym: Sickle Cell-Haemoglobin E Disease
hasExactSynonym: Sickle Cell-Hemoglobin E Disease

Sickle Cell Disease-S/Lepore Boston
type: Class
subclass of: Sickle Beta Thalassemia
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Complete Blood Count
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Hemoglobin Profile Assay
subclass of: Restriction
  on property: has mode of inheritance
  some values from: SCDO_1000243
subclass of: Restriction
  on property: has causal genotype
  some values from: Hemoglobin Genotype S/Lepore Boston
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: SCDO_1000209
subclass of: Restriction
  on property: has manifestation
  some values from: Splenomegaly
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin Lepore Boston
definition: Sickle cell-Hb Lepore Boston syndrome is a type of sickle cell disease that differs from homozygous sickle cell disease where both parents carry sickle hemoglobin. In this variant one parent has the sickle cell hemoglobin the second parent has Hb Lepore Boston, the only one of the three Hb Lepore variants described in association with HbS.
curator note: Request inclusion into relevant ontology
definition source: Hemoglobin Lepore syndrome
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
dc:source: Hemoglobin Lepore syndrome
hasExactSynonym: SCD-S/Lepore Boston
hasExactSynonym: Sickle Cell Disease-S/Lepore
hasExactSynonym: Sickle Cell-Hb Lepore Boston Syndrome
hasExactSynonym: Sickle Cell-Hemoglobin Lepore Boston Syndrome
comment: Hb Lepore Washington, also known as Hb Lepore Boston or Hb Lepore Washington-Boston; most common in Italians from Southern Italy.

Sickle Cell Disease-S/O-Arab
type: Class
subclass of: Structural Hemoglobinopathy
subclass of: SCDO_1000163
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Genetic Testing
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Electrophoresis
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Hemoglobin Profile Assay
subclass of: Restriction
  on property: treated with
  some values from: Blood Transfusion
subclass of: Restriction
  on property: has mode of inheritance
  some values from: SCDO_1000243
subclass of: Restriction
  on property: has causal genotype
  some values from: Hemoglobin Genotype S/O-Arab
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU121LYS
subclass of: Restriction
  on property: has manifestation
  some values from: Severe Anemia
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin O-Arab
definition: One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin O-Arab. It can cause anemia, repeated infections, and periodic episodes of pain and organ damage.
curator note: Request inclusion into relevant ontology
definition source: http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hb-F-S-O-Arab
existence in other ontologies: Few but definitions not freely available
dc:source: https://www.cancertherapyadvisor.com/labmed/anemia-associated-with-hemoglobin-s-o-arab/article/612377/
hasExactSynonym: Hb F,S,O-Arab
hasExactSynonym: Hb S O-Arab disease
hasExactSynonym: Hb S,O-Arab
hasExactSynonym: Hemoglobin S O-Arab Disease
hasExactSynonym: SO(Arab) disease
hasExactSynonym: Sickle Cell-Haemoglobin O-Arab Disease
hasExactSynonym: Sickle Cell-Hemoglobin O-Arab Disease

obsolete Sickle Cell-Hemoglobin Other than A,C,D,E,O-Arab
type: Class
subclass of: from phenotype
definition: 'A variant of sickle cell disease in which individuals have atypical hemoglobin molecules called hemoglobin S together with another form of abnormal hemoglobin, other than hemoglobin C,D,E and O-Arab. [Curator team: []]'
definition source: http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hb-F-S-and-other-than-A-C-D-E-O-Arab
hasExactSynonym: Hb S Other than A,C,D,E,O-Arab
deprecated: true

Sickle Retinopathy
type: Class
subclass of: Abnormality of the Eye
subclass of: Ophthalmologic Complication
subclass of: Restriction
  on property: caused by
  some values from: Vaso-Occlusion
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
definition: Retinal changes of sickle cell disease that can be either proliferative or non-proliferative. In both cases, the changes are caused by erythrostasis secondary to sickling.
curator note: Request inclusion into HPO below "Retinopathy". Use the scielo source to add info on diagnosis and treatment.
definition source: Bonanomi et al 2013 Arq Bras Oftalmol
existence in other ontologies: Few but definitions not freely available
hasExactSynonym: Retinopathy due to SCD
hasExactSynonym: Sickle Cell Retinopathy

Sickling Test
type: Class
subclass of: Hemoglobin S Test
subclass of: SCDO_1000577
definition: A qualitative screening test for sickling haemoglobins, especially HbS. In the SCT, sodium metabisulfite or sodium dithionate is used to desolubilise haemoglobin S to the crystallised deoxygenated form, which causes the abnormal RBCs to sickle, as detected by light microscopy.
curator note: In SNOMED CT this term seems to be both "Sickle cell identification, slide method" and "Sickling Test". Request they merge these terms?
definition source: Segen's Medical Dictionary. © 2012 Farlex, Inc.
existence in other ontologies: Few but definitions not freely available.
hasExactSynonym: Sickle Cell Identification, Slide Method

Sickness Impact Profile (SIP)
type: Class
subclass of: Quality of Life Measure
definition: A generic measure used to evaluate the impact of SCD on both physical and emotional functioning of an affected person. SIP is designed to measure perceived health status and to be used as an outcome measure for evaluation, program planning, and policy formation related to health care. It is designed in such a way as to reflect sensitivity to changes and/or differences in health status and to be applicable across a broad range of types and severities of the SCD illness, as well as different demographic and cultural groups.
curator note: Too specific to SCD to be included in other ontologies. These annotation properties still required: -- has respondents -- has target population -- selection criteria met -- validated for age ranges -- has cross-cultural adaptation -- freely available -- has translations
definition source: http://link.springer.com/referenceworkentry/10.1007%2F978-0-387-79948-3_1833
definition source: http://qol.thoracic.org/sections/instruments/pt/pages/sick.html
existence in other ontologies: Few but definitions not specific enough
creator: SCDO
dc:source: Bergner M., Bobbitt R.A., Carter W.B. and Gilson B.S. (1981). The Sickness Impact Profile: development and final revision of a health status measure. Medical Care 19,787-805.
hasExactSynonym: SIP
hasExactSynonym: Sickness Impact Profile

deprecated Skin
type: Class
subclass of: from phenotype
definition: 'The bodily system consisting of the skin and its associated structures, such as the hair, nails, sweat glands, and sebaceous glands. [Curator team: []]'
term replaced by: SCDO_0008348
definition source: integumentary system. (n.d.) The American Heritage Medical Dictionary. (2007). Retrieved December 14 2016
hasExactSynonym: Dermatologic System
hasExactSynonym: Integumentary System
deprecated: true

Skin Rash
type: Class
subclass of: Abnormality of Skin Physiology
subclass of: Restriction
  on property: treated with
  some values from: Antibiotic
subclass of: Restriction
  on property: treated with
  some values from: Antihistamine
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: An abnormal change in skin color, appearance, or texture.
curator note: Suggest update to description in HPO.
definition source: HP_0000988
existence in other ontologies: Suggest update to description
database cross reference: HP:0000988
hasExactSynonym: Exanthem

Sleep Breathing Disorder
type: Class
subclass of: Behavioural Abnormality
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Sleep Disorders Screener - Adult
subclass of: Restriction
  on property: diagnosed using tool
  some values from: SCDO_1000338
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: An intrinsic sleep disorder characterized by breathing abnormalities.
definition source: http://purl.obolibrary.org/obo/NBO_0000494
existence in other ontologies: Suffcient
database cross reference: NBO:0000494
hasExactSynonym: SBD

Sleep Disorders Screener - Adult
type: Class
subclass of: SCDO_1000348
definition: An interviewer-administered questionnaire which captures routine sleep schedule, sleep deprivation, morningness-eveningness, insomnia, narcolepsy, cataplexy and associated distress.
curator note: Suggest update to label in PhenX (from "Suggest update to label") as we have done.
definition source: https://www.phenxtoolkit.org/protocols/view/121001
has protocol: PhenX protocol: Sleep Disorders Screener #121001
existence in other ontologies: Suggest update to label
database cross reference: phenX:121001
hasExactSynonym: National Institute of Mental Health (NIMH) Sleep Patterns and Problems Instrument

Slit Lamp
type: Class
subclass of: Diagnostic Device
subclass of: Restriction
  on property: used by diagnostic tool
  some values from: Slit-Lamp Examination
definition: A microscope with a light source that can be projected into a linear beam. It allows cross-sectional viewing of the aqueous humor; conjuncteiva; cornea; eyelids; iris; and lens of the eye.
definition source: http://purl.bioontology.org/ontology/MESH/D066167
existence in other ontologies: Sufficient
previous identifier: SCDO:0001077
database cross reference: MESH:D066167

Smoking
type: Class
subclass of: Health Behaviour
definition: Inhaling and exhaling the smoke of burning tobacco (Cigar, Cigarette, Hookah, Pipe, Smoking, Waterpipe).
definition source: http://purl.bioontology.org/ontology/MESH/D012907
existence in other ontologies: Sufficient
previous identifier: SCDO:0001079
database cross reference: MESH:D012907

Smoking Cessation
type: Class
subclass of: Tobacco Use Cessation
definition: Discontinuing the habit of smoking.
definition source: http://purl.bioontology.org/ontology/MESH/D016540
existence in other ontologies: Sufficient
previous identifier: SCDO:0001080
database cross reference: MESH:D016540
hasExactSynonym: Quit Smoking

Social Environment
type: Class
subclass of: Environmental Disease Modifier
definition: The aggregate of social and cultural institutions, forms, patterns, and processes that influence the life of an individual or community.
definition source: http://purl.bioontology.org/ontology/MESH/D012931
existence in other ontologies: Sufficient
previous identifier: SCDO:0001082
database cross reference: MESH:D012931
hasExactSynonym: Social Ecology

Social Functioning
type: Class
subclass of: Quality of Life
definition: Social functioning defines an individual's interactions with their environment and the ability to fulfill their role within such environments as work, social activities, and relationships with partners and family.
curator note: Request inclusion into relevant ontology Include terms for social relationships; social activities?
definition source: Compr Psychiatry. 2000 Jan-Feb;41(1):63-9. Assessment of social functioning in depression.
existence in other ontologies: Few but definitions not freely available
dc:source: PROMIS Domain Frameworks/Definitions nih.promis.org

Social Isolation
type: Class
subclass of: Social Functioning
definition: The separation of individuals or groups resulting in the lack of or minimizing of social contact and/or communication. This separation may be accomplished by physical separation, by social barriers and by psychological mechanisms. In the latter, there may be interaction but no real communication.
definition source: http://purl.bioontology.org/ontology/MESH/D012934
existence in other ontologies: Sufficient
previous identifier: SCDO:0001084
database cross reference: MESH:D012934
hasExactSynonym: Social Isolations

Social Role
type: Class
subclass of: Social Functioning
definition: A role that is ascribed to individuals in a community.
definition source: http://semanticscience.org/resource/SIO_000676
existence in other ontologies: Sufficient
previous identifier: SCDO:0001085
database cross reference: SIO:000676
hasExactSynonym: Social Function

Social Role Fulfillment
type: Class
subclass of: Social Functioning
definition: An extent/ degree to which an individual fulfills the expectations of his/her social role.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO

Social Skill
type: Class
subclass of: Social Functioning
definition: The personal set of abilities required to successfully interact and communicate with others, both verbally and non-verbally through gestures, body language and personal appearance.
definition source: http://purl.bioontology.org/ontology/MESH/D066107
existence in other ontologies: Sufficient
previous identifier: SCDO:0001087
database cross reference: MESH:D066107
hasExactSynonym: Interpersonal Skill
hasExactSynonym: Social Ability
hasExactSynonym: Social Competence
hasExactSynonym: Social Skills

Social Support
type: Class
subclass of: Social Functioning
definition: Support systems that provide assistance and encouragement to individuals with physical or emotional disabilities in order that they may better cope. Informal social support is usually provided by friends, relatives, or peers, while formal assistance is provided by churches, groups, etc.
definition source: http://purl.bioontology.org/ontology/MESH/D012944
existence in other ontologies: Sufficient
previous identifier: SCDO:0001088
database cross reference: MESH:D012944
hasExactSynonym: Psychosocial Support System
hasExactSynonym: Social Network

Social Values
type: Class
subclass of: Culture
definition: Abstract standards or empirical variables in social life which are believed to be important and/or desirable.
definition source: http://purl.bioontology.org/ontology/MESH/D012945
existence in other ontologies: Sufficient
previous identifier: SCDO:0001089
database cross reference: MESH:D012945
hasExactSynonym: Value Orientation
hasExactSynonym: Value Orientations

Socioeconomic Factors
type: Class
subclass of: Social Environment
definition: Social and economic factors that characterize the individual or group within the social structure.
curator note: Maybe include some sub-classes of this term in MESH? There would be overlap with terms in QOL, so would need to work around that.
definition source: http://purl.bioontology.org/ontology/MESH/D012959
existence in other ontologies: Sufficient
previous identifier: SCDO:0001090
database cross reference: MESH:D012959

Socioeconomic Status
type: Class
subclass of: Socioeconomic Factors
definition: The combination of one's social class and income level. Includes socioeconomic differences between individuals or groups.
definition source: http://bioportal.bioontology.org/ontologies/APAONTO/
existence in other ontologies: Sufficient
previous identifier: SCDO:0001091
database cross reference: APAONTO:Socioeconomic_Status

Solubility Test
type: Class
subclass of: Hemoglobin S Test
subclass of: SCDO_1000577
definition: A basic first line test that looks for the presence of abnormal Hemoglobin S in a blood sample. Sodium metabisulfite is added to the blood sample which causes Hb S polymerisation and sickling of red blood cells if Hb S is present. A positive result means that a person has either Sickle Cell Disease or Sickle Cell Trait. Confirmatory tests are needed to distinguish which form of SCD the patient has.
curator note: In SNOMED CT this term is "Hemoglobin S Solubility Test" Commonly used tests include hemoglobin electrophoresis, isoelectric focusing (IEF), high performance liquid chromatography (HPLC), and DNA analysis.
existence in other ontologies: Few but definitions not freely available.
creator: SCDO (Clair Ingram)
hasExactSynonym: Hemoglobin S Solubility Test

Sphygmomanometer
type: Class
subclass of: Manometer
definition: Instruments for measuring arterial blood pressure consisting of an inflatable cuff, inflating bulb, and a gauge showing the blood pressure.
definition source: http://purl.bioontology.org/ontology/MESH/D019722
existence in other ontologies: Sufficient
previous identifier: SCDO:0001097
database cross reference: MESH:D019722

Spirituality
type: Class
subclass of: Culture
definition: Sensitivity or attachment to religious values, or to things of the spirit as opposed to material or worldly interests.
definition source: http://purl.bioontology.org/ontology/MESH/D029181
existence in other ontologies: Sufficient
previous identifier: SCDO:0001098
database cross reference: MESH:D029181
hasExactSynonym: Spiritual Beliefs
hasExactSynonym: Spiritualities

Spirometer
type: Class
subclass of: Diagnostic Device
subclass of: Restriction
  on property: has output measurement
  some values from: Lung Volume Measurement
subclass of: Restriction
  on property: used by diagnostic tool
  some values from: Spirometry
subclass of: Restriction
  on property: used by diagnostic tool
  some values from: Lung Volume Test
definition: A spirometer is an apparatus for measuring the volume of air inspired and expired by the lungs. It is a precision differential pressure transducer for the measurements of respiration flow rates. The spirometer records the amount of air and the rate of air that is breathed in and out over a specified period of time.
definition source: http://purl.obolibrary.org/obo/ERO_0000452
existence in other ontologies: Sufficient
previous identifier: SCDO:0001099
database cross reference: ERO:0000452

Steroid-Resistant Nephrotic Syndrome
type: Class
subclass of: Nephrotic Syndrome
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
subclass of: Restriction
  on property: diagnosed by
  some values from: Nephrotic Syndrome
definition: A form of nephrotic syndrome that does not respond to treatment with steroid medication after 8 weeks, specifically in children.
curator note: Suggest update to description in HPO Provide source for additional info.
definition source: HP_0012588
is caused by: May represent underlying focal segmental glomerulosclerosis, minimal change disease, or other underlying cause. Can be subseqeunt to known mutations.
is characterised by: Persistence of nephrotic syndrome despite appropriate treatment with corticosteroids.
existence in other ontologies: Suggest update to description
database cross reference: HP:0012588

Stigma
type: Class
subclass of: Quality of Life
definition: A perceived attribute that is deeply discrediting and is considered to be a violation of social norms.
definition source: http://purl.bioontology.org/ontology/MESH/D057545
existence in other ontologies: Sufficient
previous identifier: SCDO:0001107
database cross reference: MESH:D057545
hasExactSynonym: Social Stigma
hasExactSynonym: Social Stigmas
hasExactSynonym: Stigmas

Stigmatization
type: Class
subclass of: Quality of Life
definition: An oversimplified perception or conception, especially or persons, social groups, etc.
definition source: http://purl.bioontology.org/ontology/MESH/D013240
existence in other ontologies: Sufficient
previous identifier: SCDO:0001108
database cross reference: MESH:D013240
hasExactSynonym: Stereotyping

Stroke
type: Class
subclass of: Quality of Life Related SCD Symptoms and Complications
subclass of: Abnormality of the Cerebral Vasculature
subclass of: Restriction
  on property: treated with
  some values from: Transcranial Doppler Ultrasonography
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A group of pathological conditions characterized by sudden loss of neurological function due to brain ischemia or intracranial hemorrhages. Stroke is classified by the type of tissue necrosis, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature.
curator note: Types of stroke relevant to SCD to be added as children of this class.
definition source: http://purl.bioontology.org/ontology/MESH/D020521
existence in other ontologies: Sufficient
previous identifier: SCDO:0001111
database cross reference: MESH:D020521
hasExactSynonym: Brain Vascular Accident
hasExactSynonym: CVA
hasExactSynonym: Cerebral Infarction
hasExactSynonym: Cerebral Vascular Event
hasExactSynonym: Cerebrovascular Accident
hasExactSynonym: Cerebrovascular Stroke

Stroke Impact Measure
type: Class
subclass of: Quality of Life Measure
subclass of: SCDO_1000297
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: This measure is a physical assessment to determine neurological deficits due to a stroke.
curator note: Suggest update to label in PhenX
definition source: http://bioportal.bioontology.org/ontologies/PHENX/
has_application_toward: This measure is used to describe the consequences of a stroke and to monitor the effects of treatment and recovery.
existence in other ontologies: Suggest update to label
database cross reference: phenX:820800
hasExactSynonym: Stroke Impact/Outcome Measure
hasExactSynonym: Stroke Outcome Measure

Stroke Impact Scale (SIS)
type: Class
subclass of: Functionality After Stroke Measure
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: This questionnaire includes 59 proxy- or self-report items in 8 domains that assess multidimensional stroke outcomes in adults.
curator note: Suggest update to description in PhenX.
definition source: http://www.phenxtoolkit.org/index.php
has protocol: PhenX protocol: Stroke Impact Scale (SIS) - Adults #820701
existence in other ontologies: Suggest update to description
database cross reference: phenX:820701
hasExactSynonym: Stroke Impact Scale (SIS) - Adults

Stroke Risk Test in Children with Sickle Cell Disease
type: Class
subclass of: Cerebral Blood Flow Assay
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: uses diagnostic device
  some values from: Doppler Ultrasound Machine - 2 Megahertz
subclass of: Restriction
  on property: measures
  some values from: Cerebral Blood Flow Velocity
definition: A clinical test to measure the blood flow velocities in intracranial arteries. Elevated intracranial arterial blood flow rates are indicative of expanding vessel lesions and a subsequent increased risk of stroke.
curator note: Include below "Cerebral Flow Test"? -- Include below "Vascular Endothelial Function Test"?
definition source: https://www.phenxtoolkit.org/protocols/view/821001
existence in other ontologies: Sufficient
previous identifier: SCDO:0001114
database cross reference: phenX:821001

Stuttering Priapism
type: Class
subclass of: Priapism
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: The occurrence of multiple self-limited episodes of unwanted, often painful erections lasting <4 hours.
curator note: Request inclusion into relevant ontology, perhaps below "Priapism" in MESH.
definition source: Evidence-Based Management of Sickle Cell Disease, Expert Panel Report, 2014
existence in other ontologies: Few but definitions not freely available
creator: SCDO
hasExactSynonym: Recurrent Priapism

Substance Use History
type: Class
subclass of: Personal Medical History
definition: Assessment with the goal to obtain a relevant drug and alcohol history and perform a physical examination in order to establish whether there is a diagnosis of a substance use disorder.
existence in other ontologies: Few but definitions not specific enough
creator: SCDO
comment: If substance use disorder diagnosed, the patient’s readiness to change should be categorized and information from the assessment should be used to formulate a management plan based on the individual’s needs.

Substances - Lifetime Use
type: Class
subclass of: Substance Use History
subclass of: SCDO_1000318
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: SCDO_1000337
definition: An indication of whether the respondent has ever used a drug during his or her entire life.
curator note: Request inclusion into relevant ontology
existence in other ontologies: Not relevant to context of sickle cell
creator: SCDO (Jade Hotchkiss)

Suicidal Thoughts
type: Class
subclass of: Depression
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: Frequent thinking about or preoccupation with killing oneself.
curator note: Suggest update to description in HPO (correct typo in "oneself")
definition source: HP_0031589
existence in other ontologies: Suggest update to description
database cross reference: HP:0031589
hasExactSynonym: Suicidal Ideation

Support Group
type: Class
subclass of: Social Functioning
definition: Organizations which provide an environment encouraging social interactions through group activities or individual relationships especially for the purpose of rehabilitating or supporting patients, individuals with common health problems, or the elderly. They include therapeutic social clubs.
definition source: http://purl.bioontology.org/ontology/MESH/D012657
existence in other ontologies: Sufficient
previous identifier: SCDO:0001123
database cross reference: MESH:D012657
hasExactSynonym: Self Help Group
hasExactSynonym: Self-Help Group
hasExactSynonym: Self-Help Groups
hasExactSynonym: Therapeutic Social Club

Supportive Therapeutics
type: Class
subclass of: Therapeutics
subclass of: Restriction
  on property: treats
  some values from: Acute Kidney Injury
subclass of: Restriction
  on property: treats
  some values from: Myoglobinuria
subclass of: Restriction
  on property: treats
  some values from: Myopathy
subclass of: Restriction
  on property: treats
  some values from: Hemoglobinuria
subclass of: Restriction
  on property: treats
  some values from: Acute Tubular Necrosis
subclass of: Restriction
  on property: treats
  some values from: Exercise-Induced Rhabdomyolysis
subclass of: Restriction
  on property: treats
  some values from: Ataxia
subclass of: Restriction
  on property: treats
  some values from: Agenesis of Corpus Callosum
subclass of: Restriction
  on property: treats
  some values from: Renal Ischemia
definition: Measures aimed at providing appropriate supportive and rehabilitative services to minimize morbidity and maximize quality of life after a long-term disease or injury is present.
definition source: http://purl.bioontology.org/ontology/MESH/D055512
existence in other ontologies: Sufficient
previous identifier: SCDO:0001129
database cross reference: MESH:D055512
hasExactSynonym: Supportive Therapy
hasExactSynonym: Tertiary Prevention

Sustained and Selective Attention Diagnostic Instrument
type: Class
subclass of: Clinical or Research Assessment Questionnaire
subclass of: Diagnostic Instrument
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: A computerized test for the assessment of visual attention problems in individuals ages 8 years old and older.
curator note: Suggest update to label in PhenX as we have done.
definition source: http://www.phenxtoolkit.org/index.php
has protocol: PhenX protocol: Sustained and Selective Attention #821201
existence in other ontologies: Suggest update to label
database cross reference: phenX:821201
hasExactSynonym: Conners CPT 3
hasExactSynonym: Conners Continuous Performance Test 3rd Edition
hasExactSynonym: Conners Continuous Performance Test 3rd Edition (Conners CPT 3)

Symptomatic Therapeutics
type: Class
subclass of: Therapeutics
subclass of: Restriction
  on property: treats
  some values from: Acute Upper Respiratory Tract Infection
subclass of: Restriction
  on property: treats
  some values from: Agenesis of Corpus Callosum
definition: Therapeutics that ease the symptoms without addressing the basic cause of the disease.
curator note: Request inclusion into relevant ontology
definition source: http://www.medicinenet.com/script/main/art.asp
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Symptomatic Treatment

Acute Sickle Cell Crisis
type: Class
subclass of: Phenotype of Sickle Cell Disease
subclass of: Acute Phenotype
subclass of: Restriction
  on property: caused by
  some values from: Vaso-Occlusion
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: Refers to a worsening, over a short period of time, of the symptoms and signs of SCD; usually associated with pain and/or shortage of blood (anaemia). Can be suspected in a person with sickle cell disease who presents with a sudden onset of pain, infection, anemia or other symptoms such as stroke or priapism. Acute pain frequently occurs spontaneously, but may be precipitated by infections, skin cooling, dehydration or stress.
curator note: Request inclusion into relevant ontology
curator note: This is a difficult one to describe, as I think it can also be referred to as an 'acute painful crisis' (this is not clear from the literature). Have tried to merge descriptions from different sources - please review.
definition source: !scenario:1
definition source: Rees, D. C., Olujohungbe, A. D., Parker, N. E., Stephens, A. D., Telfer, P. and Wright, J. (2003), Guidelines for the management of the acute painful crisis in sickle cell disease. British Journal of Haematology, 120: 744-752. doi:10.1046/j.1365-2141.2003.04193.x
definition source: SCD Management guidelines - Nigeria
existence in other ontologies: None
creator: SCDO

deprecated Systemic
type: Class
subclass of: from phenotype
definition: 'Affecting a number of tissues relating to the entire organism as distinguished from and of its individual parts. [Curator team: []]'
term replaced by: SCDO_1000269
definition source: http://medical-dictionary.thefreedictionary.com/systemic
deprecated: true

Tertiary Healthcare
type: Class
subclass of: Health System
definition: Care of a highly technical and specialized nature, provided in a medical center, usually one affiliated with a university, for patients with unusually severe, complex, or uncommon health problems.
definition source: http://purl.bioontology.org/ontology/MESH/D063128
existence in other ontologies: Sufficient
previous identifier: SCDO:0001140
database cross reference: MESH:D063128
hasExactSynonym: Tertiary Care
hasExactSynonym: Tertiary Health Care

Test of Functional Health Literacy in Adults (TOFHLA)
type: Class
subclass of: Quality of Life and Care Measure
definition: The Test of Functional Health Literacy Assessment (TOFHLA) assesses a patient's level of comprehension of health-related material. It is available in a full-format (a 22-minute test, with 50 reading comprehension items in three passages and 17 numeracy items), an abbreviated format (a 12-minute test, with 36 reading comprehension items in two passages and four numeracy items) and a shortened version (the S-TOFHLA, a 7-minute test, with 36 reading comprehension items in 2 passages.). The passages on the S-TOFHLA use a modified Cloze procedure where every fifth to seventh word is omitted and subjects select the correct word from among a set of four options. The passages contain information about an upper gastrointestinal tract x-ray procedure, and the "Rights and Responsibilities" section from a Medicaid application, and have Gunning-Fox readability indices of fourth and tenth grade, respectively. In early developmental studies, the reading comprehension passages in the S-TOFHLA had a reliability coefficient (Cronbach's alpha) of 0.97 and correlation with the Rapid Estimate of Adult Literacy in Medicine (REALM) of 0.81. Each selection is scored a "1" for correct or a "0" for incorrect and scores are summed over items to create a total score. The 36-point scale of the S-TOFHLA is divided into three categories of functional literacy: inadequate (0-16), adequate (17-22) and functional (23-36).
curator note: Request inclusion into NCIT below "Research or Clinical Assessment Tool". Still must add these annotation properties: -- has respondents -- has target population -- selection criteria met -- validated for age ranges -- has cross-cultural adaptation -- freely available
definition source: Parker RM, Baker DW, Williams MV, Nurss JR. The test of functional health literacy in adults: a new instrument for measuring patients' literacy skills. Journal of General Internal Medicine. 1995;10(10):537-41.
has translations: Spanish
existence in other ontologies: None
dc:source: Parker RM, Baker DW, Williams MV, Nurss JR. The test of functional health literacy in adults: a new instrument for measuring patients' literacy skills. Journal of General Internal Medicine. 1995;10(10):537-41.
hasExactSynonym: TOFHLA
hasExactSynonym: Test of Functional Health Literacy in Adults

The Duke Religion Index (DUREL)
type: Class
subclass of: Quality of Life Measure
definition: The Duke Religion Index (DUREL) is a five item scale which measures religiosity in three areas: organizational religiosity (OR), non-organizational religiosity (NOR), and intrinsic religiosity. Two of the questions were derived from large epidemiologic studies and have been shown to have a strong predictive value for many health outcomes. OR has been related to less depression, more social support, better physical health, lower resource utilization, and lower mortality. NOR has been shown to be related to poorer physical health, and greater social support. The other three items were taken from the Hoge 10- item religiosity scale (Hodge et al 1972). The DUREL has high test-retest reliability (intra-class correlation = 0.91), high internal consistency (Cronbach's alpha's = 0.78--0.91).
curator note: Request inclusion into NCIT below "Research or Clinical Assessment Tool". Also requires these properties: -- has cross-cultural adaptation -- has translations
definition source: Koenig, HG and Büssing A. (2010). The Duke University Religion Index (DUREL): A Five-Item Measure for Use in Epidemological Studies. Religions, 1, 78-85.
has respondents: Self
has target population: Adults with SCD
selection criteria met: Used in at least one SCD study
validated for age ranges: Adults
freely available: no
existence in other ontologies: None
dc:source: Koenig, HG and Büssing A. (2010). The Duke University Religion Index (DUREL): A Five-Item Measure for Use in Epidemological Studies. Religions, 1, 78-85.
hasExactSynonym: DUREL
hasExactSynonym: The Duke Religion Index

Therapeutic Device
type: Class
subclass of: Therapeutics
definition: A medical device used to prevent and treat medical conditions, or to alleviate pain or injury.
curator note: Request inclusion into relevant ontology
existence in other ontologies: Negligable
creator: SCDO

Therapeutic Irrigation
type: Class
subclass of: Supportive Therapeutics
definition: The washing of a body cavity or surface by flowing water or solution for therapy or diagnosis.
definition source: http://purl.bioontology.org/ontology/MESH/D007507
existence in other ontologies: Sufficient
previous identifier: SCDO:0001151
database cross reference: MESH:D007507
hasExactSynonym: Lavage
hasExactSynonym: Lavages
hasExactSynonym: Therapeutic Irrigations

Therapeutics
type: Class
subclass of: SCDO
definition: Procedures, agents or devices concerned with the remedial treatment or prevention of diseases.
curator note: Chemotherapy to be added in this class? If so, would have to be specific types of chemotherapy relevant to the type of therapeutics class.
curator note: Include as subclasses: -- Prosthesis -- Phototherapy (therapy for Jaundice) -- Risk Reduction? Copy relevant disease modifiers below this.
curator note: Suggest update to description in MESH
definition source: D013812
existence in other ontologies: Suggest update to description
database cross reference: MESH:D013812
hasExactSynonym: Therapy
hasExactSynonym: Treatment

Indel Mutation
type: Class
subclass of: Mutation
definition: A mutation named with the blend of insertion and deletion. It refers to a length difference between two alleles where it is unknowable if the difference was originally caused by a sequence insertion or by a sequence deletion. If the number of nucleotides in the insertion/deletion is not divisible by three, and it occurs in a protein coding region, it is also a frameshift mutation.
definition source: http://purl.bioontology.org/ontology/MESH/D054643
existence in other ontologies: Sufficient
previous identifier: SCDO:0001158
database cross reference: MESH:D054643
hasExactSynonym: Insertion-Deletion Mutation

Tobacco Use Cessation
type: Class
subclass of: Health Behaviour
subclass of: Restriction
  on property: treats
  some values from: Subarachnoid Hemorrhage
definition: Ending the tobacco habits of smoking, chewing, or snuff use.
definition source: http://purl.bioontology.org/ontology/MESH/D020340
existence in other ontologies: Sufficient
previous identifier: SCDO:0001159
database cross reference: MESH:D020340
hasExactSynonym: Tobacco Cessation

Traditional Healer
type: Class
subclass of: Beliefs About Remedies and Treatment
definition: A person who practices the art of healing using traditional medicine, a system of medicine based on cultural beliefs and practices handed down from generation to generation. The concept includes mystical and magical rituals (spiritual therapies); phytotherapy (plant therapy) and other treatments which may not be explained by modern medicine.
curator note: Request inclusion into relevant ontology, perhaps MESH.
existence in other ontologies: Few but definitions not specific enough
creator: SCDO
dc:source: D008519
hasExactSynonym: Faith Healer
hasExactSynonym: Folk Healer
hasExactSynonym: Healer
hasExactSynonym: Sangoma
hasExactSynonym: Shaman

Trail Making Test
type: Class
subclass of: Executive Function Measure
definition: An interviewer-administered, two-part test that requires the respondent to organize numerical and alphabetical sequences that are randomly distributed on a piece of paper. The protocol includes instructions for correcting mistakes and instructions for scoring based on speed and accuracy.
curator note: Suggest update to label in PhenX.
definition source: https://www.phenxtoolkit.org/protocols/view/131101
has protocol: PhenX protocol: #131101
existence in other ontologies: Suggest update to label
database cross reference: phenX:131101
hasExactSynonym: Executive Function - Adult

Transcranial Doppler Ultrasonography
type: Class
subclass of: Cerebral Blood Flow Assay
subclass of: Ultrasound Test
subclass of: Supportive Therapeutics
subclass of: Restriction
  on property: treats
  some values from: Stroke
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: A non-invasive technique using ultrasound for the measurement of cerebrovascular hemodynamics, particularly cerebral blood flow velocity and cerebral collateral flow. With a high-intensity, low-frequency pulse probe, the intracranial arteries may be studied transtemporally, transorbitally, or from below the foramen magnum.
definition source: http://purl.bioontology.org/ontology/MESH/D017585
existence in other ontologies: Sufficient
previous identifier: SCDO:0001166
database cross reference: MESH:D017585
hasExactSynonym: TCD
hasExactSynonym: Transcranial Doppler
hasExactSynonym: Ultrasonography, Doppler, Transcranial

Transcutaneous Electrical Nerve Stimulation
type: Class
subclass of: Analgesia
subclass of: Restriction
  on property: treats
  some values from: Pain
definition: The use of specifically placed small electrodes to deliver electrical impulses across the skin to relieve pain. It is used less frequently to produce anesthesia.
definition source: http://purl.bioontology.org/ontology/MESH/D004561
existence in other ontologies: Sufficient
previous identifier: SCDO:0001167
database cross reference: MESH:D004561
hasExactSynonym: Analgesic Cutaneous Electrostimulation
hasExactSynonym: Electroanalgesia
hasExactSynonym: Electroanalgesias
hasExactSynonym: Percutaneous Electrical Nerve Stimulation
hasExactSynonym: Percutaneous Electrical Neuromodulations
hasExactSynonym: Percutaneous Neuromodulation Therapies
hasExactSynonym: Percutaneous Neuromodulation Therapy
hasExactSynonym: TENS
hasExactSynonym: Transcutaneous Electric Stimulation
hasExactSynonym: Transcutaneous Electrical Stimulation
hasExactSynonym: Transcutaneous Nerve Stimulation
hasExactSynonym: Transdermal Electrostimulation

Transient Monocular Blindness
type: Class
subclass of: Blindness
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Eye Examination
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Test
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Electrocardiography
subclass of: Restriction
  on property: treated with
  some values from: Exercise
subclass of: Restriction
  on property: treated with
  some values from: Healthy Diet
subclass of: Restriction
  on property: treated with
  some values from: Healthy Lifestyle
subclass of: Restriction
  on property: treated with
  some values from: Surgery
subclass of: Restriction
  on property: treated with
  some values from: Treatment of Precipitating Factors
definition: Temporary loss of vision in one eye due to a lack of blood flow to the retina.
curator note: Request inclusion into HP below "Blindness".
definition source: 6520.pdf
existence in other ontologies: None
creator: SCDO
dc:source: https://www.ncbi.nlm.nih.gov/pubmed/2261177
hasExactSynonym: Amaurosis Fugax
hasExactSynonym: TMB
hasExactSynonym: Temporary Blindness

obsolete Twin Study
type: Class
subclass of: obsolete Publication Type
definition: 'Work consisting of reporting using a method of detecting genetic causes in human traits and genetic factors in behavior using sets of twins. [Curator team: []]'
definition source: http://purl.bioontology.org/ontology/MESH/D018486
database cross reference: MESH:D018486
deprecated: true

Twin Studies as Topic
type: Class
subclass of: Epidemiologic Study Characteristics
definition: Works about methods of detecting genetic etiology in human traits. The basic premise of twin studies is that monozygotic twins carry identical genes, while zygotic twins are genetically no more similar than two siblings born after separate pregnancies. (Last, J.M., A Dictionary of Epidemiology, 2d ed)
definition source: http://purl.bioontology.org/ontology/MESH/D018433
existence in other ontologies: Sufficient
previous identifier: SCDO:0001198
database cross reference: MESH:D018433

UGT1A1
type: Class
subclass of: Non-Globin Gene
definition: This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome.
curator note: Request inclusion into relevant ontology
definition source: https://www.ncbi.nlm.nih.gov/gene/54658
existence in other ontologies: Few but definitions not freely available
hasExactSynonym: GNT1
hasExactSynonym: UDP Glucuronosyltransferase Family 1 Member A1
hasExactSynonym: UGT1
hasExactSynonym: UGT1A1 Gene

Urban Location
type: Class
subclass of: Geographic Location
subclass of: Healthcare Access
definition: The region surrounding a city. Most inhabitants of urban areas have nonagricultural jobs. Urban areas are very developed, meaning there is a density of human structures such as houses, commercial buildings, roads, bridges, and railways.
curator note: Request inclusion into relevant ontology
definition source: urban-area
existence in other ontologies: None
hasExactSynonym: Urban
hasExactSynonym: Urban Area
hasExactSynonym: Urban Environment
hasExactSynonym: Urban Setting

Urinary Albumin Test
type: Class
subclass of: Urine Test
subclass of: Kidney Function Test
subclass of: Restriction
  on property: has essential measure
  some values from: Blood Pressure Measurement
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: has essential measure
  some values from: History of Kidney Failure Diagnostic Instrument
subclass of: Restriction
  on property: has essential measure
  some values from: History of Type I and Type 2 Diabetes Diagnostic Instrument
subclass of: Restriction
  on property: measures
  some values from: Urine Albumin Concentration
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
definition: A bioassay to measure urine concentration of albumin, which is produced by the liver and is the most abundant protein in the blood.
curator note: Label different from source's "Urinary Microalbumin - Assay"
definition source: https://www.phenxtoolkit.org/protocols/view/141501
has protocol: ALB-CR-J-MET-Urine-Albumin-508.pdf
has protocol: PhenX protocol: Urinary Microalbumin Assay #141501
existence in other ontologies: Suggest update to label
dc:source: microalbuminuria
comment: In the protocol provided, albumin concentration is measured according to a fluorescent immunoassay (FIA). The protocol also lists reference ranges for healthy adults. The criteria for clinically significant proteinuria have been changed from an albumin-creatinine ratio (ACR) of 30 mg/mmol or more to 3 mg/mmol or more. This is because there is evidence that the risk of adverse outcomes is a continuum and starts at an ACR well below 30 mg/mmol. The Sickle Cell Disease Research and Scientific Panel notes that the terms "microalbuminuria" and "macroalbuminuria" have been used clinically to describe different levels of abnormal albumin excretion rate: 30-299 mg/g urine creatinine, and >300 mg/gr urine creatinine, for microalbuminuria and macroalbuminuria, respectively. Recently, a new terminology has been proposed: "low level albuminuria" instead of microalbuminuia, and "high level albuminuria" for macroalbuminuria, since the older terminology could be interpreted as measuring different molecular forms of albumin. Because albuminuria may be affected by non-pathological factors (exercise, menstruation contamination, biological variability, etc.), abnormal values should be confirmed within 1-2 months.

Urinary Creatinine Test
type: Class
subclass of: Urine Test
subclass of: Kidney Function Test
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: measures
  some values from: Urine Creatinine Concentration
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
definition: A bioassay to measure urine concentration of creatinine, a muscle metabolite that is filtered out of blood by the kidneys.
definition source: https://www.phenxtoolkit.org/protocols/view/141601
has protocol: ALB-CR-J-MET-Urine-Creatinine-508.pdf
has protocol: PhenX protocol: Urinary Creatinine - Assay #141601
existence in other ontologies: Sufficient
previous identifier: SCDO:0001206
database cross reference: phenX:141601
hasExactSynonym: Urinary Creatinine Assay
hasExactSynonym: Urine Creatinine Analysis

Urinary Protein Measurement
type: Class
subclass of: Urine Measurement
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
definition: Any measurement of protein present in urine.
curator note: Suggest update to description in CMO.
definition source: CMO_0000770
existence in other ontologies: Suggest update to description (currently no description provided).
database cross reference: CMO:0000770

deprecated Urinary System
type: Class
subclass of: from phenotype
definition: The organs and passageways concerned with the production and excretion of urine, including the kidneys, ureters, urinary bladder, and urethra.
term replaced by: SCDO_0001347
definition source: http://purl.obolibrary.org/obo/BTO_0003092
database cross reference: BTO:0003092
deprecated: true

Urine Albumin Concentration
type: Class
subclass of: Urinary Protein Measurement
subclass of: Restriction
  on property: has essential measure
  some values from: Blood Pressure Measurement
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: has essential measure
  some values from: History of Kidney Failure Diagnostic Instrument
subclass of: Restriction
  on property: has essential measure
  some values from: History of Type I and Type 2 Diabetes Diagnostic Instrument
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Urinary Albumin Test
subclass of: Restriction
  on property: has possible finding
  some values from: Low Level Albuminuria
subclass of: Restriction
  on property: has possible finding
  some values from: SCDO_1000201
subclass of: Restriction
  on property: has possible finding
  some values from: SCDO_1000836
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
definition: The amount of albumin in a specified volume of urine.
curator note: Suggest that the CMO removes the second part of the definition and puts as comment, as we have done. Also suggest the change to this second part.
definition source: CMO_0000130
existence in other ontologies: Suggest update to description
dc:source: https://www.phenxtoolkit.org/protocols/view/141501
database cross reference: CMO:0000130
hasExactSynonym: Urinary Albumin Concentration
hasExactSynonym: Urinary Albumin Level
hasExactSynonym: Urine Albumin Level
comment: Urine albumin levels which are above normal but not detectable with routine protein testing are referred to as low level albuminuria (the old term is microalbuminuria). Because albuminuria may be affected by non-pathological factors (exercise, menstruation contamination, biological variability, etc.), abnormal values should be confirmed within 1-2 months.

Urine Albumin Excretion Rate
type: Class
subclass of: Urinary Protein Measurement
definition: The amount of albumin excreted into the urine within a specified period of time.
curator note: Suggest that the CMO removes the second part of the definition and puts as comment, as we have done. Also suggest the change to this second part.
definition source: http://purl.obolibrary.org/obo/CMO_0000757
existence in other ontologies: Suggest update to description
database cross reference: CMO:0000757
hasExactSynonym: Urinary Albumin Excretion Rate
comment: If the level of albumin in the urine is above normal but not high enough to be detectable with routine protein testing it is referred to as low level albuminuria (the old term is microalbuminuria).

Urine Albumin-Creatinine Ratio
type: Class
subclass of: Urinary Protein Measurement
definition: A comparison of urine microalbumin, that is, a level of albumin in the urine which is above normal but not detectable with routine protein testing, to the amount of creatinine in a specified volume of urine. Often expressed as albumin concentration divided by creatinine concentration times 1000 mg per gram.
curator note: Suggest update to description as we have done.
definition source: http://purl.obolibrary.org/obo/CMO_0000384
existence in other ontologies: Suggest update to description
database cross reference: CMO:0000384
hasExactSynonym: ACR
hasExactSynonym: ALBCREAT
hasExactSynonym: Albumin To Creatinine Protein Ratio Measurement
hasExactSynonym: Albumin-Creatinine Ratio
hasExactSynonym: Albumin/Creatinine Ratio
hasExactSynonym: Microalbumin/Creatinine Ratio
hasExactSynonym: UACR
hasExactSynonym: Urinary Albumin-Creatinine Ratio
hasExactSynonym: Urine Albumin Level to Urine Creatinine Level Ratio
hasExactSynonym: Urine Microalbumin-Creatinine Ratio

Urine Creatinine Concentration
type: Class
subclass of: Urine Measurement
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Urinary Creatinine Test
subclass of: Restriction
  on property: has possible finding
  some values from: Increased Urine Creatinine Level
subclass of: Restriction
  on property: has possible finding
  some values from: Decreased Urine Creatinine Level
subclass of: Restriction
  on property: has possible finding
  some values from: SCDO_1000837
definition: The concentration of creatinine in a urine specimen.
curator note: Request inclusion below "urine creatinine measurement" in the CMO.
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
dc:source: http://bioportal.bioontology.org/ontologies/ONSTR
hasExactSynonym: Urinary Creatinine Concentration
hasExactSynonym: Urine Creatinine Amount
hasExactSynonym: Urine Creatinine Concentration Measurement Datum
hasExactSynonym: Urine Creatinine Level

Urine Protein Sulfosalicylic Acid Precipitation Test
type: Class
subclass of: Biochemical Assay
definition: A method in which sulfosalicylic acid (that is, the SSA reagent) is added to a small and equal volume of clear urine. The acidification causes precipitation of protein in the sample (seen as increasing turbidity), which can be subjectively quantitated visually or more precisely quantitated using photometry.
definition source: http://purl.obolibrary.org/obo/MMO_0000504
existence in other ontologies: Sufficient
previous identifier: SCDO:0001215
database cross reference: MMO:0000504
hasExactSynonym: SSA Protein Precipitation Test
hasExactSynonym: Urine SSA Turbidimetry
hasExactSynonym: Urine Sulfosalicylic Acid Turbidimetry
hasExactSynonym: Urine Turbidimetry with Sulfosalicylic Acid

obsolete Urology
type: Class
subclass of: deprecated Urinary System
definition: The medical specialty concerned with the study, diagnosis, and treatment of diseases of the genitourinary tract.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
database cross reference: NCIT:C17243
deprecated: true

Validation Studies
type: Class
subclass of: Research Characteristics
definition: Works consisting of research using processes by which the reliability and relevance of a procedure for a specific purpose are established.
definition source: http://purl.bioontology.org/ontology/MESH/D023361
existence in other ontologies: Sufficient
previous identifier: SCDO:0001223
database cross reference: MESH:D023361

Vaping
type: Class
subclass of: Smoking
definition: Smoking vapors produced from electronic nicotene delivery systems.
definition source: http://purl.bioontology.org/ontology/MESH/D000072137
existence in other ontologies: Sufficient
previous identifier: SCDO:0001224
database cross reference: MESH:D000072137
hasExactSynonym: Electronic Cigarrete Use

Endothelial Function Test
type: Class
subclass of: Physiological Assay
definition: A measure of vascular endothelial cell response to stimulation, for example, by vasoactive substances released by or those that interact with the vascular endothelium.
curator note: Request inclusion into relevant ontology
definition source: http://circ.ahajournals.org/content/108/17/2054
existence in other ontologies: None
hasExactSynonym: Assessment of Endothelial Cell Function
hasExactSynonym: Endothelium Dysfunction Test
hasExactSynonym: Vascular Endothelial Function Test

Vaso-Occlusive Crisis
type: Class
subclass of: SCD Related Pain
subclass of: Restriction
  on property: caused by
  some values from: Vaso-Occlusion
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Pain resulting from tissue ischemia as a result of blockage of blood vessels, occurring in a variety of vascular beds, but most commonly in the bone or bone marrow and requiring analgesic medication.
curator note: Request inclusion into relevant ontology
definition source: Evidence-Based Management of Sickle Cell Disease: Expert Panel Report (EPR), 2014
existence in other ontologies: Few but definitions not specific enough
creator: SCDO
hasExactSynonym: Acute Pain Crisis
hasExactSynonym: Sickle Crisis
hasExactSynonym: VOC
hasExactSynonym: Vaso-Occlusive Crisis
hasExactSynonym: Vaso-Occlusive Episodes

Venipuncture
type: Class
subclass of: Diagnostic Technique, Method, Test or Assay
definition: Extraction of blood from a vein using a needle. In human, the basilic, cephalic and median cubital veins are most commonly used as well as the femoral vein.
definition source: http://purl.obolibrary.org/obo/MMO_0000090
existence in other ontologies: Sufficient
previous identifier: SCDO:0001230
database cross reference: MMO:0000090

Vineland Adaptive Behavior Scales, Second Edition (Vineland-II)
type: Class
subclass of: Quality of Life Measure
subclass of: SCDO_1000297
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: A parent or caregiver questionnaire administered as part of a structured interview that measures day-to-day performance on communication, daily living, socialization, and motor skills. Standard scores can be derived for communication, daily living, socialization, and motor skills subtests or combined to create an Adaptive Behavior Composite (ABC).
curator note: Suggest update to label in PhenX as we have done.
definition source: http://www.phenxtoolkit.org/index.php
has protocol: PhenX protocol: Adaptive Behavior/Adaptive Function #820601
has respondents: Proxy
has_application_toward: This measure can be used to identify individuals with developmental disabilities or delays, perform diagnostic evaluations, monitor progress, and develop programs.
validated for age ranges: All ages from birth through age 90
existence in other ontologies: Suggest update to label
database cross reference: phenX:820601
hasExactSynonym: VABS
hasExactSynonym: Vineland Adaptive Behavior Scales
hasExactSynonym: Vineland-II

Virus
type: Class
subclass of: Infectious Agent
definition: Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells.
curator note: Add sub-classes: Hepatitis C Virus (term in NCIT) Hepatitis B Virus (term not found in other ontologies)
definition source: http://purl.bioontology.org/ontology/MESH/D014780
existence in other ontologies: Sufficient
previous identifier: SCDO:0001234
database cross reference: MESH:D014780
hasExactSynonym: Viruses

Vitrectomy
type: Class
subclass of: Ophthalmologic Surgical Procedure
subclass of: Restriction
  on property: treats
  some values from: Vitreous Hemorrhage
definition: Removal of the whole or part of the vitreous body in treating endophthalmitis, diabetic retinopathy, retinal detachment, intraocular foreign bodies, and some types of glaucoma.
definition source: http://purl.bioontology.org/ontology/MESH/D014821
existence in other ontologies: Sufficient
previous identifier: SCDO:0001237
database cross reference: MESH:D014821
hasExactSynonym: Vitrectomies

Western Blot
type: Class
subclass of: Electrophoresis
definition: Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.
curator note: Can this term also be below "Immunological Assay"?
definition source: D015153
existence in other ontologies: Sufficient
previous identifier: SCDO:0001240
database cross reference: MESH:D015153
hasExactSynonym: Western Immunoblot

Wheezing Episode with Co-Morbid Asthma
type: Class
subclass of: Phenotype of Sickle Cell Disease
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Personal Medical History
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Bronchodilator Responsiveness Test
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Physical Examination
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Pulmonary Function Test
definition: An acute onset of wheezing in a person with SCD and co-morbid asthma.
definition source: Glassberg, Jeffrey A., Robert Strunk, and Michael R. DeBaun. “Wheezing in Children with Sickle Cell Disease.” Current opinion in pediatrics 26.1 (2014): 9–18. PMC. Web. 2 Aug. 2017.
definition source: Paediatr Respir Rev. 2014 Mar;15(1):13-6. doi: 10.1016/j.prrv.2013.10.005. Epub 2013 Oct 31.
is caused by: Synergistic inflammatory response due to both SCD and asthma.
is characterised by: Increased severity of episodes.
existence in other ontologies: None
creator: SCDO
dc:source: Glassberg, Jeffrey A., Robert Strunk, and Michael R. DeBaun. “Wheezing in Children with Sickle Cell Disease.” Current opinion in pediatrics 26.1 (2014): 9–18. PMC. Web. 2 Aug. 2017.
dc:source: Paediatr Respir Rev. 2014 Mar;15(1):13-6. doi: 10.1016/j.prrv.2013.10.005. Epub 2013 Oct 31.
hasExactSynonym: Asthma Attack

Witchcraft
type: Class
subclass of: Beliefs About Causes of Illness
definition: An act of employing sorcery (the use of power gained from the assistance or control of spirits), especially with malevolent intent, and the exercise of supernatural powers and alleged intercourse with the devil or a familiar. (From Webster, 3rd Ed).
definition source: http://purl.bioontology.org/ontology/MESH/D018599
existence in other ontologies: Sufficient
previous identifier: SCDO:0001246
database cross reference: MESH:D018599
hasExactSynonym: Sorceries
hasExactSynonym: Sorcery

World Health Organisation Quality of Life Instrument (WHOQOL)
type: Class
subclass of: Quality of Life Measure
definition: The WHOQOL is a quality of life assessment developed by the WHOQOL Group with fifteen international field centres, simultaneously, in an attempt to develop a quality of life assessment that would be applicable cross-culturally.
curator note: Request inclusion into NCIT below "Research or Clinical Assessment Tool". Still must add these annotation properties: -- validated for age ranges -- has cross-cultural adaptation -- freely available -- has translations
has respondents: Self
has target population: Healthy people; Clinic patients
selection criteria met: Demonstrated validity with SCD populations; at least two publications using the measure
existence in other ontologies: None
dc:source: WHOQOL Group (1993). Measuring quality of life: The development of the World Health Organisation quality of life instrument (WHOQOL). Geneva: WHO.
hasExactSynonym: WHOQOL
hasExactSynonym: World Health Organisation Quality of Life Instrument

X-Ray Image
type: Class
subclass of: SCDO_1000313
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Radiography
subclass of: Restriction
  on property: output of diagnostic device
  some values from: X-Ray Machine
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: The visual output that an X-ray machine produces.
curator note: Request inclusion into relevant ontology.
existence in other ontologies: Not relevant to context of sickle cell
creator: SCDO (Jade Hotchkiss)

X-Ray Image of Chest
type: Class
subclass of: X-Ray Image
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Chest X-Ray
subclass of: Restriction
  on property: output of diagnostic device
  some values from: X-Ray Machine
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: The visual output that an X-ray machine produces when imaging the chest.
curator note: Request inclusion into relevant ontology.
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Chest X-Ray Image

X-Ray Therapy
type: Class
subclass of: Supportive Therapeutics
subclass of: Restriction
  on property: treats
  some values from: Cancer
definition: Medical treatment involving the use of controlled amounts of X-Rays.
definition source: http://purl.bioontology.org/ontology/MESH/D014964
existence in other ontologies: Sufficient
previous identifier: SCDO:0001252
dc:source: x-ray+therapy
database cross reference: MESH:D014964
hasExactSynonym: Roentgenotherapy
hasExactSynonym: X Ray Therapy
hasExactSynonym: X-ray Beam Therapy
hasExactSynonym: Xray Therapy

X-Rays
type: Class
subclass of: X-Ray Machine
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Penetrating, high-energy electromagnetic radiation emitted when the inner orbital electrons of an atom are excited and release radiant energy. X-ray wavelengths range from 1 pm to 10 nm. Hard X-rays are the higher energy, shorter wavelength X-rays. Soft x-rays or Grenz rays are less energetic and longer in wavelength. The short wavelength end of the X-ray spectrum overlaps the gamma rays wavelength range. The distinction between gamma rays and X-rays is based on their radiation source.
curator note: This should probably be removed.
definition source: http://purl.bioontology.org/ontology/MESH/D014965
existence in other ontologies: Sufficient
previous identifier: SCDO:0001253
database cross reference: MESH:D014965
hasExactSynonym: X-Radiation
hasExactSynonym: X-Ray Electromagnetic Radiation

EuroQol Five Dimensions Questionnaire (EQ-5D)
type: Class
subclass of: Quality of Life and Care Measure
definition: The EQ-5D is a widely-used generic instrument for describing health-related quality of life states in five dimensions scored from 1 to 3 or 1 to 5, and a visual analogue scale to record self-rated health state from 0 to100. These provide a simple descriptive profile and a single index value for health status. The EQ-5D can also be used to calculate health utilities and determine the quality-adjusted life years associated with a health state. There is also a youth version (EQ-5D-Y).
definition source: The EuroQol Group. EuroQol-a new facility for the measurement of health-related quality of life. Health Policy. 1990; 16(3):199-208.
has cross-cultural adaptation: Multiple countries and cultural groups
has respondents: Self
has target population: Healthy People; Clinic Patients
selection criteria met: Widely used around the world, also used in SCD
validated for age ranges: Adults and Youth (8 to 18 years)
existence in other ontologies: Few but definitions not specific enough
dc:source: Anie KA, Grocott H, White L, Dzingina M, Rogers G, Cho G (2012). Patient self-assessment of hospital pain, mood and health-related quality of life in adults with sickle cell disease. BMJ Open, 2, e001274. doi:10.1136/bmjopen-2012-001274.
dc:source: Howard, J, Malfroy, M, Llewelyn, C et al. The Transfusion Alternatives Preoperatively in Sickle Cell Disease (TAPS) study: a randomised, controlled, multicentre clinical trial. Lancet. 2013; 381(9870):930–938.
dc:source: The EuroQol Group. EuroQol-a new facility for the measurement of health-related quality of life. Health Policy. 1990; 16(3):199-208.
hasExactSynonym: EQ-5D
hasExactSynonym: EuroQol Five Dimension Self-Report Questionnaire
hasExactSynonym: EuroQol Five Dimensions Questionnaire
hasExactSynonym: EuroQol Five-Dimensional Questionnaire
hasExactSynonym: European Quality of Life Five Dimension Five Level Scale Questionnaire

Functional Assessment of Chronic Illness Therapy-Spirituality (FACIT-Sp) Scale
type: Class
subclass of: Quality of Life Measure
definition: The FACIT-Sp is a 12-item measure that asks participants to indicate how true various statements are about them on a Likert scale of 0 ("not at all") to 4 ("very much"). Responses on the FACIT-Sp are summed to create a total score, ranging from 0 to 48, with higher scores representing higher levels of spirituality.
curator note: Request inclusion into NCIT below "Research or Clinical Assessment Tool".
definition source: Peterman AH, Fitchett G, Brady MJ, et al. Measuring spiritual well-being in people with cancer: the functional assessment of chronic illness therapy—Spiritual Well-being Scale (FACIT- Sp). Ann Behav Med. 2002;24:49–58.
has respondents: Self; Proxy (Parent report)
has target population: Children with SCD and their parents
selection criteria met: Demonstrated validity in SCD studies.
validated for age ranges: Children and adults
existence in other ontologies: None
dc:source: Peterman AH, Fitchett G, Brady MJ, et al. Measuring spiritual well-being in people with cancer: the functional assessment of chronic illness therapy—Spiritual Well-being Scale (FACIT- Sp). Ann Behav Med. 2002;24:49–58.
hasExactSynonym: FACIT-Sp Scale
hasExactSynonym: Functional Assessment of Chronic Illness Therapy-Spirituality Scale

Behaviour Therapy
type: Class
subclass of: Psychotherapy
subclass of: Restriction
  on property: modifies
  some values from: Behaviour
subclass of: Restriction
  on property: treats
  some values from: Obesity
definition: The application of modern theories of learning and conditioning in the treatment of behavior disorders.
definition source: http://purl.bioontology.org/ontology/MESH/D001521
existence in other ontologies: Sufficient
previous identifier: SCDO:0001284
database cross reference: MESH:D001521
hasExactSynonym: Behavior Modification
hasExactSynonym: Behavior Modifications
hasExactSynonym: Behavior Therapies
hasExactSynonym: Behavior Therapy
hasExactSynonym: Conditioning Therapies
hasExactSynonym: Conditioning Therapy

Cluster Headache
type: Class
subclass of: Abnormal Nervous System Physiology
subclass of: Pain
subclass of: Acute Phenotype
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Patient Symptom Report
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: A primary headache disorder that is characterized by severe, strictly unilateral pain which is orbital, supraorbital, temporal or in any combination of these sites, lasting 15-180 min. occurring 1 to 8 times a day. The attacks are associated with one or more of the following, all of which are ipsilateral: conjunctival injection, lacrimation, nasal congestion, rhinorrhea, facial sweating, eyelid edema, and miosis.
definition source: http://purl.bioontology.org/ontology/MESH/D003027
existence in other ontologies: Sufficient
previous identifier: SCDO:0001288
database cross reference: MESH:D003027
hasExactSynonym: Acute Severe Headache
hasExactSynonym: Cluster Headaches
hasExactSynonym: Migraine, Neuralgic

D57.00 Hb-SS disease with crisis, unspecified
type: Class
subclass of: D57.0 Hb-SS disease with crisis
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Disease-SS
subclass of: Restriction
  on property: code requires phenotype
  some values from: Sickle Cell Painful Event
definition: Broad term used to describe several different acute conditions occurring with sickle cell disease, including aplastic crisis, hemolytic crisis, and vasoocclusive crisis.
existence in other ontologies: Sufficient
previous identifier: SCDO:0001292
dc:source: http://www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-/D57.00
database cross reference: ICD10CM:D57.00
hasExactSynonym: D57.00
hasExactSynonym: Hb-SS disease with (painful) crisis NOS
hasExactSynonym: Hb-SS disease with crisis, unspecified
hasExactSynonym: Hb-SS disease with vasoocclusive pain NOS
hasExactSynonym: Hemoglobin S sickling disorder with crisis
hasExactSynonym: Sickle cell anemia, crisis

Electrocardiograph
type: Class
subclass of: Diagnostic Device
subclass of: Restriction
  on property: used by diagnostic tool
  some values from: Electrocardiography
definition: An instrument used in the detection and diagnosis of heart abnormalities that measures electrical potentials on the body surface and generates a record of the electrical currents associated with heart muscle activity.
curator note: Request inclusion into relevant ontology
definition source: http://en.wiktionary.org/wiki/electrocardiograph
existence in other ontologies: Few but definitions not freely available
hasExactSynonym: Cardiograph
hasExactSynonym: Electrocardiographic Instrument

Erythrocyte Transfusion
type: Class
subclass of: Blood Component Transfusion
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: The transfer of erythrocytes from a donor to a recipient or reinfusion to the donor.
definition source: http://purl.bioontology.org/ontology/MESH/D017707
existence in other ontologies: Sufficient
previous identifier: SCDO:0001296
database cross reference: MESH:D017707
hasExactSynonym: Erythrocyte Transfusions
hasExactSynonym: Red Blood Cell Transfusion
hasExactSynonym: Red Blood Cell Transfusions
hasExactSynonym: Transfusion, Erythrocyte
hasExactSynonym: Transfusions, Erythrocyte

Evaluation Studies
type: Class
subclass of: Research Characteristics
definition: Works consisting of studies determining the effectiveness or utility of processes, personnel, and equipment.
definition source: http://purl.bioontology.org/ontology/MESH/D023362
existence in other ontologies: Sufficient
previous identifier: SCDO:0001299
database cross reference: MESH:D023362

Exchange Transfusion, Whole Blood
type: Class
subclass of: Blood Transfusion
subclass of: Restriction
  on property: treats
  some values from: Hydrops Fetalis
definition: Repetitive withdrawal of small amounts of blood and replacement with donor blood until a large proportion of the blood volume has been exchanged. Used in treatment of fetal erythroblastosis, hepatic coma, sickle cell anemia, disseminated intravascular coagulation, septicemia, burns, thrombotic thrombopenic purpura, and fulminant malaria.
definition source: D005078
existence in other ontologies: Sufficient
previous identifier: SCDO:0001303
database cross reference: MESH:D005078
hasExactSynonym: Exchange Blood Transfusion

Executive Function Measure
type: Class
subclass of: Clinical or Research Assessment Questionnaire
subclass of: Diagnostic Instrument
definition: An interviewer-administered test to measure a respondent's system of high-level cognitive functions such as abstract thinking, rule acquisition, cognitive flexibility, and goal-oriented behavior.
definition source: http://purl.bioontology.org/ontology/phenX/131100
existence in other ontologies: Sufficient
previous identifier: SCDO:0001304
database cross reference: phenX:131100

deprecated Eye
type: Class
subclass of: from phenotype
definition: The organ of vision that consists of the eyeball and the optic nerve.
term replaced by: SCDO_1000294
definition source: http://medical-dictionary.thefreedictionary.com/eye
hasExactSynonym: Oculus
deprecated: true

obsolete Facial Paralysis
type: Class
subclass of: deprecated terms
definition: Facial paralysis is loss of facial movement because of nerve damage.
term replaced by: SCDO_0001315
curator note: Is this not the same thing as "Facial Nerve Palsy"?
database cross reference: DOID:13934
deprecated: true

Fatigue
type: Class
subclass of: Constitutional Symptom
subclass of: Quality of Life Related SCD Symptoms and Complications
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Inability to function due to tiredness related to sickle cell disease.
curator note: Use the literature cited here to link to other phenotypes.
existence in other ontologies: Not relevant to context of sickle cell
hasExactSynonym: Fatigability
hasExactSynonym: Fatigable
hasExactSynonym: Lassitude
hasExactSynonym: Tiredness

Feasibility Studies
type: Class
subclass of: Epidemiologic Study Characteristics
definition: Studies to determine the advantages or disadvantages, practicability, or capability of accomplishing a projected plan, study, or project.
definition source: http://purl.bioontology.org/ontology/MESH/D005240
existence in other ontologies: Sufficient
previous identifier: SCDO:0001320
database cross reference: MESH:D005240

Fentanyl
type: Class
subclass of: Opioid
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: A potent narcotic analgesic, abuse of which leads to habituation or addiction. It is primarily a mu-opioid agonist. Fentanyl is also used as an adjunct to general anesthetics, and as an anesthetic for induction and maintenance.
curator note: Were these specific synonyms selected form the long list in the description source because of specific relevance to SCD?
definition source: D005283
existence in other ontologies: Sufficient
previous identifier: SCDO:0001321
database cross reference: MESH:D005283
hasExactSynonym: Duragesic
hasExactSynonym: Durogesic
hasExactSynonym: N-phenyl-N-[1-(2-phenylethyl)piperidin-4-yl]propanamide
hasExactSynonym: Phentanyl

Serum Ferritin Test
type: Class
subclass of: Blood Test
subclass of: Restriction
  on property: has essential measure
  some values from: Ethnic Group
subclass of: Restriction
  on property: has essential measure
  some values from: Race
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: measures
  some values from: Serum Ferritin Level
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
definition: A bioassay to measure the serum concentration of ferritin (i.e., iron).
curator note: Suggest update to label in PhenX (from "Serum or Plasma Ferritin")
definition source: https://www.phenxtoolkit.org/protocols/view/811301
existence in other ontologies: Suggest update to label
database cross reference: phenX:811301
hasExactSynonym: Ferritin Blood Test
hasExactSynonym: Ferritin Measurement
hasExactSynonym: Plasma Ferritin Assay
hasExactSynonym: Plasma Ferritin Test
hasExactSynonym: Serum Ferritin Assay

Serum Ferritin Level
type: Class
subclass of: Blood Chemistry Measurement
subclass of: Restriction
  on property: has essential measure
  some values from: Ethnic Group
subclass of: Restriction
  on property: has essential measure
  some values from: Race
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
subclass of: Restriction
  on property: obtained via diagnostic tool
  some values from: Serum Ferritin Test
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: The amount of ferritin found in a specified volume of serum.
curator note: Suggest update to description and label of "ferritin measurement" in the EFO.
existence in other ontologies: Suggest update to description
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Blood Serum Ferritin Concentration
hasExactSynonym: Blood Serum Ferritin Concentration Measurement Datum

Flow Cytometer
type: Class
subclass of: Diagnostic Device
subclass of: Restriction
  on property: used by diagnostic tool
  some values from: Flow Cytometry
definition: An instrument which is used to count and sort microscopic particles suspended in a buffer. This instrument consists of a flow cell, at least one lamp or laser, a variable number of emission detectors or photomultipliers, a system that converts analog signals to digital, and a computer to run the system and collect and analyze the data output.
curator note: Not sure whether this can be classified as a "Medical Device".
definition source: http://purl.bioontology.org/ontology/npo#NPO_1769
existence in other ontologies: Sufficient
previous identifier: SCDO:0001325
database cross reference: NPO:1769

Flow Cytometry
type: Class
subclass of: Physical Detection Method
subclass of: Restriction
  on property: uses diagnostic device
  some values from: Flow Cytometer
subclass of: Restriction
  on property: measures
  some values from: Red Blood Cell Microparticles Level
definition: Flow cytometry uses the principles of light scattering and fluorescence from fluorochrome molecules to generate specific multi-parameter data from particles and cells in the size range of 0.5um to 40um diameter.
definition source: http://bioportal.bioontology.org/ontologies/BAO/
existence in other ontologies: Sufficient
previous identifier: SCDO:0001326
database cross reference: BAO:0000005

Fluorescein Angiography
type: Class
subclass of: Imaging Assay
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Visualization of a vascular system after intravenous injection of a fluorescein solution. The images may be photographed or televised. It is used especially in studying the retinal and uveal vasculature.
definition source: http://purl.bioontology.org/ontology/MESH/D005451
existence in other ontologies: Sufficient
previous identifier: SCDO:0001327
database cross reference: MESH:D005451
hasExactSynonym: Fluorescence Angiography

Focal Dystonia
type: Class
subclass of: Abnormal Nervous System Physiology
definition: A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.
definition source: Orphanet 1866
existence in other ontologies: Sufficient
previous identifier: SCDO:0001328
database cross reference: ORPHA:1866

Folic Acid
type: Class
subclass of: Drug
subclass of: Preventative Therapeutics
subclass of: Symptomatic Therapeutics
subclass of: Restriction
  on property: treats
  some values from: Severe Anemia
subclass of: Restriction
  on property: treats
  some values from: Sickle Cell Disease-SD
subclass of: Restriction
  on property: treats
  some values from: Beta Zero Thalassemia
subclass of: Restriction
  on property: treats
  some values from: Hemoglobin C Disease
subclass of: Restriction
  on property: treats
  some values from: Hemoglobin E Disease
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: A member of the vitamin B family that stimulates the hematopoietic system. It is present in the liver and kidney and is found in mushrooms, spinach, yeast, green leaves, and grasses (poaceae). Folic acid is used in the treatment and prevention of folate deficiencies and megaloblastic anemia.
definition source: D005492
existence in other ontologies: Sufficient
previous identifier: SCDO:0001329
database cross reference: MESH:D005492
hasExactSynonym: Folacin
hasExactSynonym: Folate
hasExactSynonym: Folvite
hasExactSynonym: L-Glutamic acid, N-(4-(((2-amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-
hasExactSynonym: Pteroylglutamic Acid
hasExactSynonym: Vitamin B9
hasExactSynonym: Vitamin M

Follow-Up Studies
type: Class
subclass of: Cohort Studies
definition: Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.
definition source: http://purl.bioontology.org/ontology/MESH/D005500
existence in other ontologies: Sufficient
previous identifier: SCDO:0001330
database cross reference: MESH:D005500
hasExactSynonym: Follow Up Studies
hasExactSynonym: Follow-Up Study
hasExactSynonym: Followup Studies

Chronic Phenotype
type: Class
subclass of: Abnormal Phenotype
definition: An observable characteristic of disease that is persistent and long standing.
curator note: Request inclusion into relevant ontology
definition source: http://purl.obolibrary.org/obo/NCIT_C14141
definition source: http://semanticscience.org/resource/SIO_010056
existence in other ontologies: None
creator: SCDO (Clair Ingram)
database cross reference: NCIT:C14141
database cross reference: SIO:010056

from phenotype
type: Class
subclass of: deprecated terms
definition: Terms deprecated in the "Phenotype" class.

Functionality After Stroke Measure
type: Class
subclass of: Quality of Life Measure
subclass of: SCDO_1000297
subclass of: Restriction
  on property: has essential measure
  some values from: Gender
subclass of: Restriction
  on property: has essential measure
  some values from: Current Age
definition: A questionnaire to measure the health status of individuals who had a stroke.
definition source: http://bioportal.bioontology.org/ontologies/PHENX
existence in other ontologies: Sufficient
previous identifier: SCDO:0001339
database cross reference: phenX:820700
hasExactSynonym: Functionality After Stroke Diagnostic Instrument

deprecated Gastrointestinal System
type: Class
subclass of: from phenotype
definition: 'The system concerned with the function and disorders of the gastrointestinal tract, including stomach, intestines, and associated organs including liver, pancreas and gall bladder. [Curator team: []]'
term replaced by: SCDO_0000335
definition source: http://medical-dictionary.thefreedictionary.com/gastroenterology
hasExactSynonym: gastrointestinal tract
deprecated: true

Gene-Environment Interaction
type: Class
subclass of: Disease Modifier
definition: Combined effects of genotypes and environmental factors together to affect phenotypic characteristics.
definition source: http://purl.bioontology.org/ontology/MESH/D059647
existence in other ontologies: Sufficient
previous identifier: SCDO:0001342
database cross reference: MESH:D059647

Genetic Variation
type: Class
subclass of: Genetic Phenomena
subclass of: Restriction
  on property: modifies
  some values from: Phenotype
definition: Deviation(s) in the nucleotide sequence of the genetic material of an individual from that typical of the group to which the individual belongs, or deviation(s) in the nucleotide sequence of the genetic material of offspring from that of its parents.
curator note: Suggest update to description in NCIT
definition source: http://purl.obolibrary.org/obo/NCIT_C17248
existence in other ontologies: Suggest update to description
database cross reference: NCIT:C17248

deprecated beta C mutation
type: Class
subclass of: deprecated terms
definition: 'To be defined by an expert [Curator team: []]'
term replaced by: HBB, GLU6LYS
curator note: made a synonym of HBB, GLU6LYS
deprecated: true

obsolete heterozygous beta c mutation
type: Class
subclass of: deprecated terms
deprecated: true

obsolete homozygous beta c mutation
type: Class
subclass of: deprecated terms
deprecated: true

deprecated beta E mutation
type: Class
subclass of: deprecated terms
definition: 'To be defined by an expert [Curator team: []]'
term replaced by: HBB, GLU26LYS
curator note: Made a synonym of "HBB, GLU26LYS"
deprecated: true

deprecated beta S mutation
type: Class
subclass of: deprecated terms
definition: 'To be defined by an expert [Curator team: []]'
term replaced by: HBB, GLU6VAL
curator note: Made a synonym of HBB, GLU6VAL
deprecated: true

HBA1
type: Class
subclass of: SCDO_1000361
definition: This gene provides instructions for making a protein called alpha-globin, which is involved in oxygen transport. This protein is also produced from a nearly identical gene called HBA2.
curator note: Suggest update to description in NCIT.
definition source: synonyms
definition source: http://www.ontobee.org/ontology/NCIT
existence in other ontologies: Suggest update to description
database cross reference: NCIT:C75429
hasExactSynonym: HBA1 Gene
hasExactSynonym: Hemoglobin Subunit Alpha 1 Gene
hasExactSynonym: Hemoglobin, Alpha 1 Gene

HBA2
type: Class
subclass of: SCDO_1000361
definition: This gene provides instructions for making a protein called alpha-globin, which is involved in oxygen transport. This protein is also produced from a nearly identical gene called HBA1.
curator note: Suggest update to description in NCIT.
definition source: synonyms
definition source: http://purl.obolibrary.org/obo/NCIT_C75432
existence in other ontologies: Suggest update to description
hasExactSynonym: HBA2 Gene
hasExactSynonym: Hemoglobin Subunit Alpha 2 Gene
hasExactSynonym: Hemoglobin, Alpha 2 Gene

Hemoglobin Subunit Gamma
type: Class
subclass of: Beta-Globin Family Members
definition: Gamma Globin is a type of polypeptide chain that when in combination with alpha globin chains forms fetal hemoglobin. Beta-Hemoglobin subunits gamma-1 (147 aa, ~16 kDa) and gamma-2 (147 aa, ~16 kDa) are encoded by the human HBG1 and HBG2 gene respectively, in the beta-globin gene cluster. These proteins play a role in the transport of oxygen to tissues of the fetal body.
curator note: Request inclusion into relevant ontology.
definition source: https://www.genecards.org/cgi-bin/carddisp.pl
existence in other ontologies: None
dc:source: http://bioportal.bioontology.org/ontologies/NCIT
hasExactSynonym: Gamma-Globin
hasExactSynonym: Haemoglobin Gamma Chain
hasExactSynonym: Haemoglobin Subunit Gamma
hasExactSynonym: Hemoglobin Gamma Chain

Reduced Alpha/Gamma Synthesis Ratio
type: Class
subclass of: Imbalanced Hemoglobin Synthesis
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: Alpha-Globin Locus Deletion
definition: A reduction in the ratio of production of alpha globin to that of gamma globin.
curator note: Request inclusion into the HPO below "Imbalanced Hemoglobin Synthesis".
existence in other ontologies: None
creator: SCDO (Nicole Vasilevsky)
hasExactSynonym: Increased Gamma/Alpha Synthesis Ratio

Absence of Alpha Globin Synthesis with Gamma Globin Synthesis
type: Class
subclass of: Reduced Alpha/Gamma Synthesis Ratio
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: Homozygous Deletion of HBA1 and HBA2
definition: The state, in utero or shortly after birth, in which all four alpha globin genes are deleted or inactivated resulting in absent alpha globin synthesis. If gamma globin synthesis persists, then the resulting phenotype is hemoglobin Barts (four gamma chains) and hemoglobin Bart hydrops fetalis.
curator note: Request inclusion into HPO below "Reduced Alpha/Gamma Synthesis Ratio" (also requested for inclusion).
definition source: Marengo-Rowe, A.J., 2007, January. The thalassemias and related disorders. In Baylor university medical center proceedings (Vol. 20, No. 1, pp. 27-31). Taylor & Francis.
existence in other ontologies: None
creator: SCDO (Clair Ingram)

Alpha-Globin Locus Deletion
type: Class
subclass of: Deletion Mutation
subclass of: Restriction
  on property: modifies
  some values from: Clinical Phenotype of Beta Thalassemia
subclass of: Restriction
  on property: modifies
  some values from: Phenotype of Sickle Cell Disease
definition: A deletion in or of the HBA1 or HBA2 gene that can result in some form of alpha thalassemia.
curator note: Request inclusion into relevant ontology
curator note: Still need to add one sub-class: the complete deletion of the HBA1 and HBA2 genes on one chromosome 16, combined with a defect (deletional or nondeletional) in either the HBA1 or HBA2 gene on the other chromosome 16, leaving one functioning gene present (https://www.snpedia.com/index.php/Alpha_Thalassemia)
existence in other ontologies: None
creator: SCDO (Clair Ingram)
hasExactSynonym: Alpha-Globin Cluster Deletion
hasExactSynonym: Alpha-Globin Gene Cluster Deletion
hasExactSynonym: HBA Locus Deletion

Homozygous Deletion of HBA1 and HBA2
type: Class
subclass of: Alpha-Globin Locus Deletion
subclass of: Restriction
  on property: causes condition
  some values from: Hemoglobin Barts Hydrops Fetalis
definition: Deletion of all four alpha-globin genes resulting in the most severe form of alpha thalassemia, Hemoglobin Barts Hydrops Fetalis.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Clair Ingram)

Insertion
type: Class
subclass of: Mutation
definition: Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt genetic translation of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.
definition source: http://purl.bioontology.org/ontology/MESH/D016254
existence in other ontologies: Sufficient
previous identifier: SCDO:0001388
database cross reference: MESH:D016254
hasExactSynonym: Gene Insertion
hasExactSynonym: Insertion Mutation

Oxygen Therapy
type: Class
subclass of: Symptomatic Therapeutics
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
definition: The administration of oxygen to an individual. It is of paramount importance in the peri-operative care of SCD patients as hypoxaemia predisposes to sickling.
definition source: NCIT C94624
definition source: National Guideline for the Control and Management of Sickle Cell Disease
existence in other ontologies: Few but definitions not specific enough
hasExactSynonym: Supplemental Oxygen Therapy

Renal Medullary Carcinoma
type: Class
subclass of: Abnormality of the Kidney
subclass of: Sickle Cell Related Cancer
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Renal medullary carcinoma is a rare, aggressive subtype of renal cell carcinoma characterized by a large, white or tan, firm, infiltrative tumor with microabscess-like foci centered in the renal medulla, typically presenting with hematuria, abdominal/flank pain, weight loss and fever. It is associated with sickle cell trait and disease and metastasis to the bones and lungs is common at time of diagnosis.
definition source: http://www.orpha.net/ORDO/Orphanet_319319
existence in other ontologies: Sufficient
previous identifier: SCDO:0001511
dc:source: Shetty A, Matrana MR. Renal medullary carcinoma: a case report and brief review of the literature. Ochsner J. 2014;14(2):270-5.
database cross reference: ORPHA:319319
hasExactSynonym: Kidney Medullary Carcinoma
hasExactSynonym: RMC
hasExactSynonym: Renal Medullary Cancer

Ethnolinguistics
type: Class
subclass of: Demographic Factor
definition: A part of anthropological linguistics concerned with the interrelation between a language and the cultural behavior of those who speak it.
definition source: details
existence in other ontologies: Sufficient
previous identifier: SCDO:0001551
dc:source: Ethnolinguistics
database cross reference: APAONTO:Ethnolinguistics

Steady State
type: Class
subclass of: Phenotype of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: That period when the patient with sickle cell anaemia is free of infection, pain, or other disease processes.
curator note: Request inclusion into relevant ontology.
definition source: Juwah, A. I., Nlemadim, E. U., & Kaine, W. (2004). Types of anaemic crises in paediatric patients with sickle cell anaemia seen in Enugu, Nigeria. Archives of disease in childhood, 89(6), 572-576.
existence in other ontologies: Not relevant to context of sickle cell
hasExactSynonym: SCD Steady State

deprecated-Renal Insufficiency
type: Class
subclass of: from phenotype
definition: A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
term replaced by: SCDO_0000674
deprecated: true

Non-Anemic
type: Class
subclass of: Asymptomatic
definition: Not anemic, i.e. no reduction in erythrocytes volume and/or hemoglobin concentration.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Nonanemic

Nonsense Codon
type: Class
subclass of: Codon
definition: An amino acid-specifying codon that has been converted to a stop codon by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.
definition source: http://purl.bioontology.org/ontology/MESH/D018389
existence in other ontologies: Sufficient
previous identifier: SCDO:0001626
database cross reference: MESH:D018389

deprecated-Neuropathic Pain
type: Class
subclass of: from phenotype
definition: Chronic pain caused by damage to nerve fibers. It is usually associated with tissue injury. This pain is usually described as burning, numb, tingling, lancinating, shooting, or paroxysmal in nature and is associated with a sensation of pins and needles. Its severity is also enhanced by exposure to either cold or heat.
term replaced by: Chronic Neuropathic Pain
curator note: This term already exists in the ontology as 'Chronic Neuropathic Pain' (SCDO:0000228), however when searching other ontologies, the term 'chronic' is included in the definition. I have therefore edited the definition to include the term 'chronic'. Please review as to whether we need to change the label that currently exists in SCDO. Is treated with: amitriptyline, duloxetine, gabapentin, or pregabalin.
deprecated: true

Homozygous Deletion of HBA2
type: Class
subclass of: Alpha-Globin Locus Deletion
definition: Deletion of both HBA2 genes, which results in an alpha-thal-2 (alpha-/alpha-) form of alpha thalassemia trait. With this deletion there is nearly normal production of red blood cells, but there may be a mild anemia.
curator note: Request inclusion into relevant ontology
definition source: Alpha Thalassemia
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Trans Deletion of HBA2

Beta-Minus Thalassemia Mutation
type: Class
subclass of: Beta Thalassemia Mutation
subclass of: Restriction
  on property: causes condition
  some values from: Beta Minus Thalassemia
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype S/Beta Minus Thalassaemia
definition: A mutation in the beta-globin gene, HBB, that results in reduced beta globin synthesis.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO

Tachycardia
type: Class
subclass of: Abnormal Cardiovascular System Physiology
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: A rapid heartrate that exceeds the range of the normal resting heartrate for age, gender or patient population.
curator note: Suggest update to description in HPO. The original description stated 'A rapid heartrate that exceeds the range of the normal resting heartrate for age', however I think it should be recommended that gender and patient population be included.
definition source: http://purl.obolibrary.org/obo/HP_0001649
existence in other ontologies: Suggest update to description
database cross reference: HP:0001649
hasExactSynonym: Fast Heart Rate
hasExactSynonym: Heart Racing
hasExactSynonym: Racing Heart

Crystallisation of Hemoglobin
type: Class
subclass of: SCDO_1000253
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6LYS
definition: The process whereby a mutation in a hemoglobin molecule causes conformational changes in the hemoglobin molecule, which cause increased hydrophobicity of the molecule, which result in the formation of crystals consisting of the mutated hemoglobin molecules. This type of crystallisation is observed in hemoglobins with the HbC mutation.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Crystallisation of Haemoglobin
hasExactSynonym: Crystallization of Haemoglobin
hasExactSynonym: Crystallization of Hemoglobin
hasExactSynonym: Haemoglobin Crystallisation
hasExactSynonym: Haemoglobin Crystallization
hasExactSynonym: Hemoglobin Crystallisation
hasExactSynonym: Hemoglobin Crystallization

Zinc Deficiency
type: Class
subclass of: SCDO_1000261
definition: A deficiency of the essential metal Zinc; an essential cofactor for many enzymes. Zinc deficiency is caused by a lack of zinc in the diet, loss of zinc after absorption, for example through loss through burns, inability to absorb Zinc, or increased loss through exercise.
definition source: EFO_1000003
existence in other ontologies: Sufficient
previous identifier: SCDO:0002039
database cross reference: EFO:1000003

Splenic Infarction
type: Class
subclass of: Abnormality of the Spleen
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis.
definition source: http://www.ebi.ac.uk/efo/EFO_1001190
existence in other ontologies: Sufficient
previous identifier: SCDO:0002106
database cross reference: EFO:1001190

deprecated-Nature of Mutations
type: Class
subclass of: deprecated terms
definition: This represents the phenotypic feature of mutational effects on a given property of an organism biological system [Gaston K. Mazandu, []].
deprecated: true

Confidentiality
type: Class
subclass of: Research Characteristics
definition: The privacy of information and its protection against unauthorized disclosure.
definition source: http://purl.bioontology.org/ontology/MESH/D003219
existence in other ontologies: Sufficient
previous identifier: SCDO:0002125
database cross reference: MESH:D003219
hasExactSynonym: Privileged Communications

Transcriptome
type: Class
subclass of: Genetic Structure
definition: The pattern of gene expression at the level of genetic transcription in a specific organism or under specific circumstances in specific cells.
definition source: http://purl.bioontology.org/ontology/MESH/D059467
existence in other ontologies: Sufficient
previous identifier: SCDO:0002130
database cross reference: MESH:D059467
hasExactSynonym: Gene Expression Levels
hasExactSynonym: Gene Expression Profile
hasExactSynonym: Gene Expression Profiles

Disease Severity
type: Class
subclass of: Association
definition: The presence and extensiveness of a disease in the body. It is objectively evaluated through diagnostic testing and physiological examination of the impaired biological organs or tissues, in cases in which disease severity can be distinguished from other realms of health, as in heart disease.
curator note: Request inclusion into relevant ontology. This exists in the Influenza Ontology, but their definition is not ideal.
definition source: https://www.ncbi.nlm.nih.gov/pubmed/15152704
existence in other ontologies: Negligable
hasExactSynonym: Severity

Research Participant Compensation
type: Class
subclass of: Personal Attribute
definition: Reimbursement of research participants for costs directly incurred during the research, such as travel costs and reasonable compensation for their inconvenience and time spent. Compensation can be monetary or non-monetary.
curator note: Request inclusion into relevant ontology The label for this term has been changed to be more specific than the original "Compensation".
definition source: International Ethical Guidelines for Health-related Research Involving Humans, Fourth Edition. Geneva, Council for International Organizations of Medical Sciences (CIOMS); 2016.
existence in other ontologies: Few but definitions not freely available
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Study Participant Compensation
comment: Research participants should be reasonably reimbursed for costs directly incurred during the research, such as travel costs, and compensated reasonably for their inconvenience and time spent. Compensation can be monetary or non-monetary. Compensation must not be so large as to induce potential participants to consent to participate in the research against their better judgment ("undue inducement"). A local research ethics committee must approve reimbursement and compensation for research participants.

Hemoglobin D Disease Causal Mutation
type: Class
subclass of: Mutation
definition: A mutation wholly or partly responsible for causing Hemoglobin D Disease.
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Ethical Conduct
type: Class
subclass of: SCDO_1000430
definition: The abiding by applicable principles such as 1. compliance by research institutions; 2. obtaining and documenting informed consent; 3. Research Ethics Committee membership function, operations, review of research, and record keeping; 4. additional protection for certain vulnerable research subjects - pregnant women, prisoners, and children
curator note: Request inclusion into relevant ontology
definition source: National Commission for the Protection of Human Subjects of Biomedical and Behavioral Research. The Belmont Report: Ethical Principles and Guidelines for the Protection of Human Subjects of Research. [Bethesda, Md.]
definition source: Research ethics committees: Basic concepts for capacity building. International Ethical Guidelines for Health-related Research Involving Humans, Fourth Edition. Geneva. Council for International Organizations of Medical Sciences (CIOMS); 2016.
definition source: The Commission, 1978. World Health Organization. Geneva: WHO Document Production Services; 2009.
existence in other ontologies: None
creator: SCDO

Beta-Zero Thalassemia Mutation
type: Class
subclass of: Beta Thalassemia Mutation
subclass of: Restriction
  on property: causes condition
  some values from: Beta Zero Thalassemia
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype S/Beta Zero Thalassaemia
definition: A mutation in the beta-globin gene, HBB, that results in absent beta globin synthesis.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO
hasExactSynonym: Beta Null Mutation

Abnormality of Metabolism/Homeostasis
type: Class
subclass of: Abnormal Phenotype
subclass of: Metabolism/Homeostasis Phenotype
definition: An abnormality of the body's metabolism or homeostasis.
curator note: Suggest update to description in HPO. Currenlty the HPO does not have a description.
definition source: HP_0001939
existence in other ontologies: Suggest update to description
database cross reference: HP:0001939
hasExactSynonym: Homeostasis Abnormality
hasExactSynonym: Metabolism Abnormality

Pharmacogenomic Variants
type: Class
subclass of: Genetic Polymorphism
definition: Naturally occurring genetic variations associated with drug response. While these variants are not markers for genetic predisposition to disease, they influence pharmacokinetics and pharmacodynamics and often occur on genes encoding drug metabolism enzymes and transporters (e.g., angiotensin converting enzyme; cytochrome P-450 CYP2D6).
definition source: http://purl.bioontology.org/ontology/MESH/D000071184
existence in other ontologies: Sufficient
previous identifier: SCDO:0002798
database cross reference: MESH:D000071184

deprecated Globin Gene
type: Class
subclass of: deprecated terms
definition: 'The hemoglobin molecule that transports oxygen in the blood is made up of a number of components. Human hemoglobin is a tetramer: in adults it is made up of two alpha globins and two beta globins; in the fetus, of two alpha and two g globins; and in the embryo, two e and two z globins. The sequences of these five globin types are similar and the genes that code for them occur in clusters on the chromosomes. In humans, there are two main clusters of globin genes: the alpha globin cluster on chromosome 16 and the beta globin cluster on chromosome 11. [Curator team: []]'
term replaced by: Globin Locus
definition source: http://www2.nau.edu/~bio372-c/class/evolution/glbgnclst.htm
deprecated: true

Sample
type: Class
subclass of: Personal Attribute
definition: A sample is a limited quantity of something (e.g. an individual or set of individuals from a population, or a portion of a material) to be used for testing, analysis, inspection, investigation, demonstration, or trial use.
definition source: SIO 001050.rdf
existence in other ontologies: Sufficient
previous identifier: SCDO:0002829
database cross reference: SIO:001050

Polymerised Hemoglobin
type: Class
subclass of: Abnormal Hemoglobin
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
definition: Deoxygenated malfunctioning or mutated hemoglobins which clump together and form a long polymer in a process called polymerisation.
curator note: Request inclusion in the HPO, below "Abnormal Hemoglobin". Description still needs work.
existence in other ontologies: None
creator: SCDO (Khuthala Mnika)
hasExactSynonym: Hemoglobin Polymer
hasExactSynonym: Polymerised Haemoglobin
hasExactSynonym: Polymerized Hemoglobin
hasExactSynonym: Sickle Hemoglobin Polymer
hasExactSynonym: Sickling Hemoglobin

Ethnic Status
type: Class
subclass of: Ethnolinguistics
definition: A person's ethnic status, whether conserved or mixed ethnicity.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (curators)
hasExactSynonym: Tribe

obsolete Non-SCD Structural Variants
type: Class
subclass of: deprecated terms
definition: Genetic variation in the structure leading to the abnomality of protein structure in non-sickle cell disease hemoglobin.
curator note: Curation completed by the SCDO curator team: Clair.
deprecated: true

Consent Form
type: Class
subclass of: Descriptor of Consent
definition: Documents describing a medical treatment or research project, including proposed procedures, risks, and alternatives, that are to be signed by an individual, or the individual's proxy, to indicate his/her understanding of the document and a willingness to undergo the treatment or to participate in the research.
definition source: http://purl.bioontology.org/ontology/MESH/D032962
existence in other ontologies: Sufficient
previous identifier: SCDO:0003572
database cross reference: MESH:D032962
hasExactSynonym: Consent Forms

Single Nucleotide Polymorphism
type: Class
subclass of: Genetic Polymorphism
definition: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
definition source: D020641
existence in other ontologies: Sufficient
previous identifier: SCDO:0003675
database cross reference: MESH:D020641

Peripheral Blood Film
type: Class
subclass of: Blood Smear
definition: A procedure in which a sample of peripheral blood is viewed under a microscope to count different circulating blood cells (red blood cells, white blood cells, platelets, etc.) and see whether the cells look normal.
curator note: Request inclusion into relevant ontology
definition source: peripheral-blood-smear
existence in other ontologies: None
hasExactSynonym: Peripheral Blood Film Examination
hasExactSynonym: Peripheral Blood Smear

Proxy Consent
type: Class
subclass of: Consent
definition: A legal representation or family member of the participant gives consent on behalf of the patient.
curator note: Request inclusion into the Informed Consent Ontology. MESH has the term Third-party consent, but the description's not suitable.
existence in other ontologies: None
creator: SCDO (Victoria Nembaware)
hasExactSynonym: Third-Party Consent

Dynamic Consent
type: Class
subclass of: Informed Consent
definition: Dynamic consent is a personalised, communication interface to enable greater participant engagement in clinical and research activities.The interface facilitates two-way communication to stimulate a more engaged, informed and scientifically literate participant population where individuals can tailor and manage their own consent preferences. It has the potential to be applied more broadly to situations where there are multiple and varied uses of data requiring different kinds of consent over a period of time.
curator note: Request inclusion into ICO below "Informed Consent".
definition source: https://www.nature.com/articles/ejhg201471
existence in other ontologies: None
creator: SCDO

Splenectomy
type: Class
subclass of: Symptomatic Therapeutics
definition: Surgical procedure involving either partial or entire removal of the spleen.
definition source: D013156
existence in other ontologies: Sufficient
previous identifier: SCDO:0003742
database cross reference: MESH:D013156
hasExactSynonym: Splenectomies

Abnormal Hemoglobin
type: Class
subclass of: Abnormal Erythrocyte Morphology
subclass of: Hemoglobin Variant
definition: Hemoglobin characterized by structural alterations within the molecule that confer an inherited health condition phenotype. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.
curator note: Suggest HPO to update their term description and to move terms related to hemoglobin concentration below "Abnormal Hemoglobin Concentration". Include as a sub-class "Hemoglobin S-Providence"?
definition source: mD006455.html
existence in other ontologies: Suggest update to description
dc:source: HP_0011902
hasExactSynonym: Abnormal Hemoglobin Variant
hasExactSynonym: Abnormal Hemoglobins
hasExactSynonym: Abnormal Variant of Hemoglobin

Gap PCR
type: Class
subclass of: Polymerase Chain Reaction
definition: The polymerase chain reaction (PCR) is the most common method to detect the deletional thalassaemias. Gap-PCR amplifies the deleted DNA sequence using the primers flanking the deleted region 10. Three primers are designed for each deletion to amplify the normal (undeleted) and deleted gene sequences.
curator note: Request inclusion into relevant ontology.
definition source: Kho SL, Chua KH, George E, Tan JA. A novel gap-PCR with high resolution melting analysis for the detection of α-thalassaemia Southeast Asian and Filipino β°-thalassaemia deletion. Sci Rep. 2015;5:13937. Published 2015 Sep 14. doi:10.1038/srep13937
existence in other ontologies: None

Genotype
type: Class
subclass of: Genetic Phenomena
definition: The genetic constitution of the individual, comprising the alleles present at each genetic locus.
definition source: D005838
existence in other ontologies: Sufficient
previous identifier: SCDO:0004061
database cross reference: MESH:D005838

Girdle Syndrome
type: Class
subclass of: Abnormal Phenotype
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
definition: Characterized by an established ileus, with vomiting, a silent distended abdomen and distended bowel loops and fluid levels on abdominal x-ray. Some hepatic enlargement is common, and it is often associated with bilateral basal lung consolidation (chest syndrome).
curator note: Request inclusion into relevant ontology Can be treated with analgesia, IV fluids, and antibiotics if patient is febrile.
definition source: Sickle Cell Disease Paediatric Guideline ICHT v1.0 Oct 2015.pdf
definition source: SCD Management guidelines - Tanzania
existence in other ontologies: None
creator: SCDO
hasExactSynonym: Mesenteric Syndrome

Adult Hemoglobin
type: Class
subclass of: Normal Hemoglobin
definition: The most common and normal adult human hemoglobin tetramer, comprising over 97% of the total red blood cell hemoglobin and consisting of two alpha chains and two beta chains.
curator note: Request inclusion into NCIT below "Hemoglobin"/"Normal Hemoglobin". Suggest update to description in MESH.
definition source: D006441
existence in other ontologies: Few but definitions not specific enough
database cross reference: MESH:D006441
hasExactSynonym: Adult Haemoglobin
hasExactSynonym: Haemoglobin A
hasExactSynonym: Haemoglobin A1
hasExactSynonym: Hb A
hasExactSynonym: HbA
hasExactSynonym: Hemoglobin A
hasExactSynonym: Hemoglobin A1
hasExactSynonym: alpha2beta2

Hemolytic Crisis
type: Class
subclass of: Abnormality of Blood and Blood-Forming Tissues
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
definition: May be caused by an acute VOC, malarial infection or oxidant drug exposure in individuals with concomitant glucose-6-phosphate dehydrogenase (G6PD) deficiency. Haemolytic crisis may be distinguished from aplastic crisis by the finding of a reticulocytosis as opposed to a reticulocytopenia.
curator note: Request inclusion into relevant ontology
definition source: SCD Management guidelines - South Africa
existence in other ontologies: Few but definitions not freely available
creator: SCDO

Assent
type: Class
subclass of: Descriptor of Consent
definition: A term used to express willingness to participate in research by persons who are by definition too young to give informed consent but who are old enough to understand the proposed research in general, its expected risks and possible benefits, and the activities expected of them as subjects.
curator note: The source term seems to be deprecated in the ICO.
definition source: ICO_0000143
existence in other ontologies: Suggest update to description
database cross reference: ICO:0000143

Delta Beta Globin Fusion Chain
type: Class
subclass of: Beta-Globin Family Members
definition: The protein product of the fusion of the gene products of the HBD and HBB genes that causes the mutation which causes the Hemoglobin Lepore Trait.
curator note: Request inclusion into relevant ontology
definition source: Hemoglobin Lepore syndrome
existence in other ontologies: None
hasExactSynonym: Crossover between delta and beta globin gene loci
hasExactSynonym: Delta Beta Globin Chain Fusion Product

Chronic Hypersplenism
type: Class
subclass of: Chronic Phenotype
subclass of: Hypersplenism
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: Chronic splenic sequestration associated with enlarged spleen and cytopaenia with anaemia and reduction in white blood cells and platelets. The anaemia is usually chronic in nature and patients rarely present with signs of heart failure.
curator note: Request inclusion into the HPO below "Hypersplenism".
definition source: Management of Sickle Cell Disease - The United Republic of Tanzania (By Ministry of Health)
existence in other ontologies: None
creator: SCDO

Anticodon
type: Class
subclass of: Genetic Code
definition: The sequential set of three nucleotides in transfer RNA that interacts with its complement in messenger RNA, the Codon, during translation in the ribosome.
definition source: http://purl.bioontology.org/ontology/MESH/D000926
existence in other ontologies: Sufficient
previous identifier: SCDO:0004598
database cross reference: MESH:D000926

Codon
type: Class
subclass of: Genetic Code
definition: Also known as sense codon, a set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (terminator codon). Most codons are universal, but some organisms do not produce the transfer RNAs complementary to all codons. These codons are referred to as unassigned codons (nonsense codons).
curator note: Add "Terminator Codon" as a parent of "Nonsense Codon" as in MESH?
definition source: http://purl.bioontology.org/ontology/MESH/D003062
existence in other ontologies: Sufficient
previous identifier: SCDO:0004623
database cross reference: MESH:D003062

Initiator Codon
type: Class
subclass of: Codon
definition: A codon that directs initiation of protein translation (Translation, Genetic) by stimulating the binding of initiator tRNA (RNA, TRANSFER, MET). In prokaryotes, the codons AUG or GUG can act as initiators while in eukaryotes, AUG is the only initiator codon.
definition source: http://purl.bioontology.org/ontology/MESH/D018387
existence in other ontologies: Sufficient
previous identifier: SCDO:0004716
database cross reference: MESH:D018387
hasExactSynonym: Codon, Initiation
hasExactSynonym: Codon, Initiator
hasExactSynonym: Initiation Codon
hasExactSynonym: Initiation Codons
hasExactSynonym: Initiator Codons
hasExactSynonym: Start Codon
hasExactSynonym: Start Codons

Transient Ischemic Attack
type: Class
subclass of: Abnormal Cardiovascular System Morphology
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic).
definition source: http://www.ebi.ac.uk/efo/EFO_0003764
existence in other ontologies: Sufficient
previous identifier: SCDO:0004829
database cross reference: EFO:0003764
hasExactSynonym: Mini Stroke
hasExactSynonym: TIA
hasExactSynonym: Transient Ischemic Attacks

Angina
type: Class
subclass of: Abnormal Cardiovascular System Physiology
definition: A chest pain that is caused when your heart muscle doesn't get enough oxygen-rich blood.
definition source: OAE_0002122
existence in other ontologies: Sufficient
previous identifier: SCDO:0004836
database cross reference: OAE:0002122

Acute Hepatic Sequestration
type: Class
subclass of: Abnormality of the Liver
subclass of: Hepatic Complication
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: A rarely recognized complication of vaso-occlusive crisis. It is characterized by a presentation of right upper quadrant pain in the liver. A smooth, tender, enlarged liver is noted on physical exam. The lab values show a decrease in the hemoglobin/hematocrit. An increase in reticulocyte count is also seen.
curator note: Request inclusion into relevant ontology
definition source: Norris, W. E. (2004). Acute hepatic sequestration in sickle cell disease. Journal of the National Medical Association, 96(9), 1235-1239. The Management of Sickle Cell Disease. 1984. (Revised June 2002). NIH publication 02-2117. Available at http:/www.nhlbi.nih.gov/health/prof/blood/sickle/sc.
existence in other ontologies: None
creator: SCDO

deprecated-Amoxicillin
type: Class
subclass of: from therapeutics
definition: 'A penicillin in which the substituent at position 6 of the penam ring is a 2-amino-2-(4-hydroxyphenyl)acetamido group. [Curator team: []]'
term replaced by: SCDO_0002381
definition source: http://purl.obolibrary.org/obo/CHEBI_2676
database cross reference: CHEBI:2676
deprecated: true

Functional Hyposplenism
type: Class
subclass of: Abnormality of the Spleen
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: An acquired disorder caused by several hematological and immunological diseases and characterized by impairment of splenic function.
curator note: Request inclusion into relevant ontology, perhaps below "Abnormality of the Spleen" in the HPO.
existence in other ontologies: Few but definitions not freely available
creator: SCDO
dc:source: Kirkineska L, Perifanis V, Vasiliadis T. Functional hyposplenism. Hippokratia. 2014;18(1):7–11.
dc:source: Vijay, V., Cavenagh, J.D. and Yate, P., 1998. The anaesthetist's role in acute sickle cell crisis. British journal of anaesthesia, 80(6), pp.820-828.
hasExactSynonym: FH

Beta-Globin Locus Deletion
type: Class
subclass of: Deletion Mutation
definition: Deletion of a part of the beta-globin locus.
curator note: Request inclusion into relevant ontology
definition source: http://www.omim.org/entry/141900#0538
existence in other ontologies: None
creator: SCDO
dc:source: http://www.bloodjournal.org/content/126/23/3374
hasExactSynonym: Beta-Globin Cluster Deletion
hasExactSynonym: Beta-Globin Gene Cluster Deletion
hasExactSynonym: Hemaglobin Beta Gene Deletion

Chronic Anemia
type: Class
subclass of: Anemia
subclass of: Chronic Phenotype
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Long lasting form of anemia.
curator note: Request inclusion into relevant ontology No online description for this term exists, would it be sufficient to say 'Long lasting form of anemia'? or is there a better definition specific for sickle cell anemia?
existence in other ontologies: Few but definitions not freely available
creator: SCDO

Hyperhemolysis
type: Class
subclass of: Abnormality of the Liver
subclass of: Hemolysis
subclass of: Hepatic Complication
subclass of: Phenotype of Sickle Cell Disease
definition: An increase in the rate of hemolysis, in conjunction with specific clinical complications of sickle cell disease.
curator note: Request inclusion into Mammalian Phenotype ontology below "Hemolysis". Info also provided by the definition source: 'Hyperhemolysis should be typified by an acute reduction in hemoglobin level associated with higher than usual reticulocyte counts and perhaps an unaccountable and sudden increase in LDH.'
curator note: Request inclusion into relevant ontology
definition source: Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Martin H. Steinberg, Bernard G. Forget, Douglas R. Higgs, David J. Weatherall. Cambridge University Press, 17 Aug 2009
existence in other ontologies: None
creator: SCDO

Comparative Genomic Hybridisation
type: Class
subclass of: Genetic Technique
definition: A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations.
definition source: D055028
existence in other ontologies: Sufficient
previous identifier: SCDO:0005243
database cross reference: MESH:D055028
hasExactSynonym: CGH
hasExactSynonym: Comparative Genome Hybridization
hasExactSynonym: Comparative Genomic Analysis
hasExactSynonym: Comparative Genomic Hybridizations

deprecated High Reticulocyte Count
type: Class
subclass of: deprecated terms
definition: An abnormally high number of reticulocytes per unit volume of blood. The normal fraction of reticulocytes in the blood depends on the clinical situation but is usually 0.5% to 2.5% in adults and 2% to 6% in infants.
term replaced by: SCDO_0001272
curator note: Request inclusion into relevant ontology Symptom of splenic sequestration, or increased haemolysis.
definition source: Reticulocyte
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Reticulocyte Count High
deprecated: true

Globin Phenotype
type: Class
subclass of: Protein Phenotype
definition: The physical characteristics of the globin polypeptides that form hemoglobins.
curator note: Request inclusion into relevant ontology.
definition source: https://www.ncbi.nlm.nih.gov/pubmed/20339107
existence in other ontologies: None
hasExactSynonym: Globin Chain Phenotype

Database
type: Class
subclass of: Publication Formats
definition: Work consisting of a structured file of information or a set of logically related data stored and retrieved using computer-based means.
definition source: http://purl.bioontology.org/ontology/MESH/D019991
existence in other ontologies: Sufficient
previous identifier: SCDO:0005379
database cross reference: MESH:D019991
hasExactSynonym: Data Base

Fetal Hemoglobin
type: Class
subclass of: Normal Hemoglobin
definition: The major component of hemoglobin in the fetus. This hemoglobin has two alpha and two gamma polypeptide subunits in comparison to normal adult hemoglobin, which has two alpha and two beta polypeptide subunits. Fetal hemoglobin concentrations can be elevated (usually above 0.5%) in children and adults affected by leukemia and several types of anemia.
curator note: Request inclusion into NCIT below "Hemoglobin"/"Normal Hemoglobin", for completion sake.
definition source: D005319
existence in other ontologies: Sufficient
previous identifier: SCDO:0005446
database cross reference: MESH:D005319
hasExactSynonym: Fetal Haemoglobin
hasExactSynonym: Foetal Haemoglobin
hasExactSynonym: Haemoglobin F
hasExactSynonym: Hb F
hasExactSynonym: HbF
hasExactSynonym: Hemoglobin F

Myocardial Ischemia
type: Class
subclass of: Ischemia
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
definition: A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction).
definition source: http://www.ebi.ac.uk/efo/EFO_1001375
existence in other ontologies: Sufficient
previous identifier: SCDO:0005464
database cross reference: EFO:1001375

deprecated-Avascular Necrosis of the Femoral Head
type: Class
subclass of: deprecated-Avascular Necrosis
definition: Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.
term replaced by: SCDO_0000842
definition source: http://www.orpha.net/ORDO/Orphanet_86820
database cross reference: Orphanet:86820
hasExactSynonym: ANFH
deprecated: true

Genetic Code
type: Class
subclass of: Genetic Structure
definition: The meaning ascribed to the base sequence with respect to how it is translated into amino acid sequence. The start, stop, and order of amino acids of a protein is specified by consecutive triplets of nucleotides called codons.
definition source: http://purl.bioontology.org/ontology/MESH/D005815
existence in other ontologies: Sufficient
previous identifier: SCDO:0005593
database cross reference: MESH:D005815

HBB and HBD Deletion
type: Class
subclass of: Beta-Globin Locus Deletion
subclass of: SCDO_1000366
subclass of: Restriction
  on property: causes condition
  some values from: Delta Beta Thalassemia
definition: Deletion of the HBB and HBD genes that results in delta-beta thalassemia.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO

Genetic Structure
type: Class
subclass of: Genetic Phenomena
definition: A biological object that contains genetic information and that is involved in transmitting genetically encoded traits from one organism to another.
definition source: D040342
existence in other ontologies: Sufficient
previous identifier: SCDO:0005722
database cross reference: MESH:D040342
hasExactSynonym: Genetic Structures

Justice
type: Class
subclass of: Ethical Principle
definition: An ethical principle that obligates one to treat people fairly. Distributive justice refers to allocating benefits and harms fairly; procedural justice refers to using fair processes to make decisions that affect people; formal justice refers to treating similar cases in the same way. In human subjects research, the principle of justice implies that subjects should be selected equitably.
curator note: Request inclusion into relevant ontology
definition source: https://www.niehs.nih.gov/research/resources/bioethics/glossary/index.cfm#human-subjects-research
existence in other ontologies: Few but definitions not specific enough
creator: SCDO

Fever
type: Class
subclass of: Abnormality of Metabolism/Homeostasis
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Elevated body temperature due to failed thermoregulation, or inflammation or immune responses.
curator note: Merged the two descriptions from NCIT and HP Suggest update to description in NCIT and HP.
definition source: HP_0001945
definition source: NCIT C3038
existence in other ontologies: Suggest update to description
database cross reference: HP:0001945
database cross reference: NCIT:C3038
hasExactSynonym: Pyrexia
hasExactSynonym: Pyrogenic Reaction

Minor
type: Class
subclass of: Confidentiality
definition: A person who has not attained the age at which full civil rights are accorded.
definition source: http://purl.bioontology.org/ontology/MESH/D033242
existence in other ontologies: Sufficient
previous identifier: SCDO:0006036
database cross reference: MESH:D033242

Mixed Ethnicity
type: Class
subclass of: Ethnic Status
definition: An ethnic group that includes persons with significant ethnic contributions from more than one group.
definition source: http://purl.obolibrary.org/obo/ERO_0002032
existence in other ontologies: Sufficient
previous identifier: SCDO:0006070
database cross reference: ERO:0002032

Research
type: Class
subclass of: SCDO
definition: Critical and exhaustive investigation or experimentation, having for its aim the discovery of new facts and their correct interpretation, the revision of accepted conclusions, theories, or laws in the light of newly discovered facts, or the practical application of such new or revised conclusions, theories, or laws.
definition source: http://purl.bioontology.org/ontology/MESH/D012106
existence in other ontologies: Sufficient
previous identifier: SCDO:0006339
database cross reference: MESH:D012106

Gallbladder Empyema
type: Class
subclass of: Abnormality of the Digestive System
definition: An uncommon complication of cholecystitis and refers to a situation where the gallbladder lumen is filled and distended by purulent material (pus).
curator note: Request inclusion into relevant ontology
definition source: https://radiopaedia.org/articles/gallbladder-empyema
existence in other ontologies: Few but definitions not freely available
creator: SCDO

Acutely Severe Anemia
type: Class
subclass of: Anemia
subclass of: Acute Phenotype
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
definition: Aplasia or hemolysis may be precipitated by another illness/infection in sickle cell disease patients. Acutely severe anemia is defined as Hb < 5g/dl or a recent acute drop in HB > 2g/dl below the individual's steady state value. If no steady state value is available, it can be detected by the presence of acutely symptomatic anemia (i.e. tachycardia, cardiac failure, shock).
curator note: Request inclusion into relevant ontology. Please check with the working group as to how they feel about the label for this term.
definition source: SCD Management guidelines - Tanzania
existence in other ontologies: None
creator: SCDO

Human Subject Research
type: Class
subclass of: Research Characteristics
definition: Research involving the collection, storage, or use of private data or biological samples from living individuals by means of interactions, interventions, surveys, or other research methods or procedures.
definition source: https://www.niehs.nih.gov/research/resources/bioethics/glossary/index.cfm#human-subjects-research
existence in other ontologies: Not relevant to context of sickle cell

Cordocentesis
type: Class
subclass of: Hematology Screening Test
subclass of: Prenatal Screening for Sickle Cell
definition: The collecting of fetal blood samples typically via endoscopic ultrasound guided fine needle aspiration from the umbilical vein, followed by examination of the blood to detect fetal abnormalities.
curator note: Suggest update to description in MESH.
definition source: cordocentesis
definition source: D017218
existence in other ontologies: Suggest update to description
database cross reference: MESH:D017218
hasExactSynonym: Fetal Blood Sampling
hasExactSynonym: PUBS
hasExactSynonym: Percutaneous Umbilical Cord Blood Sampling
hasExactSynonym: Umbilical Vein Sampling

Material Transfer Agreement
type: Class
subclass of: Information Disclosure
definition: A material transfer agreement (MTA) is a type of legally enforceable contract employed by research institutions and companies to set the terms under which their materials and associated data may be obtained and used by others.
curator note: Request inclusion into relevant ontology
definition source: Henderson J (2007) Counterpoint: MTAs are a practical necessity. Nat Biotechnol 25: 722–724.
existence in other ontologies: None
hasExactSynonym: MTA

Bioethics
type: Class
subclass of: Ethics
definition: A branch of applied ethics that studies the value implications of practices and developments in life sciences, medicine, and health care.
definition source: http://purl.bioontology.org/ontology/MESH/D001675
existence in other ontologies: Sufficient
previous identifier: SCDO:0006706
database cross reference: MESH:D001675
hasExactSynonym: Biomedical Ethics
hasExactSynonym: Health Care Ethics

Ascorbic Acid Deficiency
type: Class
subclass of: SCDO_1000261
definition: A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into SCURVY in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)
definition source: D001206
existence in other ontologies: Sufficient
previous identifier: SCDO:0006832
database cross reference: MESH:D001206
hasExactSynonym: Ascorbic Acid Deficiencies
hasExactSynonym: Vitamin C Deficiencies
hasExactSynonym: Vitamin C Deficiency

Moyamoya Disease
type: Class
subclass of: Comorbid Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: A rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.
definition source: http://www.orpha.net/ORDO/Orphanet_2573
existence in other ontologies: Sufficient
previous identifier: SCDO:0006833
database cross reference: ORPHA:2573
hasExactSynonym: MMD

Normal Hemoglobin
type: Class
subclass of: Hemoglobin
subclass of: Protein Phenotype
definition: Hemoglobin that presents no inherited health condition phenotype.
curator note: Request inclusion into NCIT below "Hemoglobin".
existence in other ontologies: Few but definitions not freely available
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Hemoglobin Normal
hasExactSynonym: Hemoglobin Normal Variant

Aplastic Crisis
type: Class
subclass of: Acute Phenotype
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
definition: An acute form of acquired red cell aplasia. A significant change in blood picture is observed, characterised by a precipitous fall in the haemoglobin level (>20 g/l beyond steady state level) and reduced (<1%) or absent reticulocytes in the peripheral blood. The total white blood cell or platelet counts may or may not be affected. In addition, there is no significant increase in the unconjugated fraction of serum bilirubin.The most common cause is infection by parvovirus B19, a DNA virus that replicates inside immature red blood cells in the bone marrow, resulting in severe anaemia (hemoglobin levels well below steady state) and low reticulocyte count. It is rarely recurrent.
curator note: Request inclusion into relevant ontology
definition source: Juwah, A. I., Nlemadim, E. U., & Kaine, W. (2004). Types of anaemic crises in paediatric patients with sickle cell anaemia seen in Enugu, Nigeria. Archives of disease in childhood, 89(6), 572-576.
definition source: SCD Management guidelines - Jamaica
definition source: SCD Management guidelines - Nigeria
definition source: SCD Management guidelines - South Africa
existence in other ontologies: Few but definitions not freely available
creator: SCDO
hasExactSynonym: Aplastic Crises

HBG1 and/or HBG2 Mutations
type: Class
subclass of: Mutation
subclass of: Restriction
  on property: contributes to genotype
  some values from: SCDO_1000235
definition: Mutations in the HBG1 and/or HBG2 genes. Such mutations can lead to variably increased levels of fetal hemoglobin (Hb) (Hb F, alpha2gamma2) in the syndrome of hereditary persistence of fetal Hb (HPFH).
curator note: Request inclusion into relevant ontology. Perhaps add sub-classes of specific mutations as in the dc:source.
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
dc:source: https://www.ncbi.nlm.nih.gov/pubmed/24144231

Hypersplenism
type: Class
subclass of: Abnormality of the Spleen
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Condition characterized by splenomegaly, some reduction in the number of circulating blood cells in the presence of a normal or hyperactive bone marrow, and the potential for reversal by splenectomy.
definition source: http://www.ebi.ac.uk/efo/EFO_1000975
existence in other ontologies: Sufficient
previous identifier: SCDO:0006905
dc:source: Al-Salem, A. H. (2011). Splenic Complications of Sickle Cell Anemia and the Role of Splenectomy. ISRN Hematology, 2011, 864257. http://doi.org/10.5402/2011/864257
database cross reference: EFO:1000975
hasExactSynonym: Hypersplenia

Hyper-Hemolytic Crisis
type: Class
subclass of: Hemolytic Crisis
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: Significant change in blood picture characterised by a precipitous fall in the haemoglobin level associated with jaundice, marked reticulocytosis, and polychromasia on the blood smear, increased unconju- gated hyperbilirubinaemia, and increased urobilinogen content in urine above the steady state level for each individual patient.
curator note: Request inclusion into relevant ontology
definition source: Juwah, A. I., Nlemadim, E. U., & Kaine, W. (2004). Types of anaemic crises in paediatric patients with sickle cell anaemia seen in Enugu, Nigeria. Archives of disease in childhood, 89(6), 572-576.
existence in other ontologies: None
creator: SCDO

Conserved Ethnicity
type: Class
subclass of: Ethnic Status
definition: An ethnic group that includes persons with ethnic contributions from only one ethnic group.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (curators)

Hemoglobin Variant
type: Class
subclass of: Hemoglobin
subclass of: Protein Phenotype
definition: Hemoglobin with altered structural and biochemical properties.
curator note: Request inclusion into NCIT below "Hemoglobin".
definition source: https://www.ncbi.nlm.nih.gov/pubmed/23388674
existence in other ontologies: None
creator: SCDO (Clair Ingram)

Informed Consent
type: Class
subclass of: Consent
definition: Voluntary authorization, by a patient or research subject, with full comprehension of the risks involved, for diagnostic or investigative procedures, and for medical and surgical treatment.
definition source: D007258
existence in other ontologies: Sufficient
previous identifier: SCDO:0007087
database cross reference: MESH:D007258

Acute Splenic Sequestration Crisis
type: Class
subclass of: Phenotype of Sickle Cell Disease
subclass of: Acute Phenotype
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
definition: Significant change in blood picture characterised by a precipitous fall in the haemoglobin level of at least 20 g/l and accompanied by a rapidly enlarging spleen or liver (greater than 2 cm from the steady state level) and reticulocytosis above the steady state level for each individual patient. Signs of acute circulatory insufficiency such tachypnoea, tachycardia, and hypotension may or may not be present. It is the earliest life-threatening complication seen in patients with SCD besides pneumococcal infections.
curator note: Request inclusion into relevant ontology
definition source: Vijay, V., Cavenagh, J.D. and Yate, P., 1998. The anaesthetist's role in acute sickle cell crisis. British journal of anaesthesia, 80(6), pp.820-828.
existence in other ontologies: Few but definitions not freely available
creator: SCDO
hasExactSynonym: Acute Crisis Splenic Sequestration

Quantitative Hemoglobinopathy
type: Class
subclass of: Hemoglobinopathy
definition: A hemoglobinopathy caused by a reduced or imbalanced synthesis of a normal globin chain or by a defect in the switch between synthesis of different types of normal hemoglobin.
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
dc:source: haemoglobinopathies
hasExactSynonym: Abnormal Hemoglobin Synthesis
hasExactSynonym: Abnormal Synthesis Hemoglobinopathy
hasExactSynonym: Synthesis Hemoglobinopathy

obsolete Other Molecules
type: Class
subclass of: deprecated terms
definition: 'Other molecules are complexes which do not contain protein or RNA, including lipids, carbohydrates, etc.'
deprecated: true

Adrenal Insufficiency
type: Class
subclass of: Abnormality of the Adrenal Glands
definition: Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.
curator note: Suggest update to description. Not sure if they changed their description or if we adapted it.
definition source: HP_0000846
existence in other ontologies: Suggest update to description
database cross reference: HP:0000846
hasExactSynonym: Hypoadrenalism

Risk
type: Class
subclass of: Research
definition: The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome.
definition source: http://purl.bioontology.org/ontology/MESH/D012306
existence in other ontologies: Sufficient
previous identifier: SCDO:0007495
database cross reference: MESH:D012306

Community Engagement
type: Class
subclass of: Research Characteristics
definition: A process of inclusive participation that supports mutual respect of values, strategies, and actions for authentic partnership of people affiliated by geographic location, shared interest, or similar circumstances to address issues affecting community wellbeing.
curator note: Request inclusion into relevant ontology
definition source: Holzer et al 2014 Doi:10.1097/JIM.0000000000000097
existence in other ontologies: Few but definitions not available

deprecated Major Area
type: Class
subclass of: deprecated terms
definition: Distinct geographical area.
term replaced by: SCDO_1000367
curator note: This term was too general. Was replaced by "Geographic Area".
deprecated: true

Descriptor of Consent
type: Class
subclass of: Research
definition: Information or a description of consent (hypothetical or obtained) or any aspect involved in or captured in the consent process.
curator note: Request inclusion into relevant ontology, perhaps the ICO.
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

deprecated-Avascular necrosis of the humeral head
type: Class
subclass of: deprecated-Avascular Necrosis
definition: In situ death of bone within the humeral head due to disruption of blood supply.
term replaced by: SCDO_1000376
curator note: Has synonym: Osteonecrosis of the humeral head
definition source: http://www.wheelessonline.com/ortho/Humeral_Head_Osteonecrosis
deprecated: true

Molecular Phenotype
type: Class
subclass of: Phenotype
definition: The molecular characteristics of a cell of tissue including expressed coding and non-coding RNAs, proteins and their post-translational modifications, lipids, carbohydrates and small molecules that characterize the state in a cell or tissue and that result from the interaction of its genotype and the environment.
definition source: http://bioportal.bioontology.org/ontologies/BAO
definition source: http://www.bioassayontology.org/bao#BAO_0170001
existence in other ontologies: Sufficient
previous identifier: SCDO:0007623
database cross reference: BAO:0170001

Beta Thalassemia Genotype
type: Class
subclass of: Genotype
subclass of: Restriction
  on property: causes condition
  some values from: Beta Thalassemia
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype S/Beta Thalassemia
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: SCDO_1000240
definition: HBB genetic variants that result in reduced or absent hemoglobin subunit beta production.
curator note: Request inclusion into relevant ontology
definition source: PMID: 20301599
existence in other ontologies: None
creator: SCDO

Sickle Cell Thalassemia
type: Class
subclass of: SCDO_1000163
subclass of: SCDO_1000215
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Genetic Testing
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Blood Smear
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Hemoglobin Profile Assay
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: Beta Thalassemia Mutation
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: A Parental Guide to Managing Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
definition: Hemolytic anemia, in which patients are compound or double heterozygous for both the sickle cell gene and a thalassemia gene.
curator note: Suggest update to description in NCIT
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Suggest update to description
database cross reference: NCIT:C61237
hasExactSynonym: Sickle Cell-Thalassemia

Ethics Approval
type: Class
subclass of: Research Characteristics
subclass of: SCDO_1000430
definition: A document containing the determination of the Research Ethics Committee (REC) that the clinical study with human subject participation has been reviewed and may be conducted at a particular study site within the constraints set forth by the REC and other institutional and federal requirements. The regulations require that an REC conduct continuing review of research at intervals appropriate to the degree of risk, but not less than once a year.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO

Embryonic Hemoglobin
type: Class
subclass of: Normal Hemoglobin
definition: Hemoglobin produced in the blood islands in the embryonic yolk sac during the mesoblastic stage of gestation. There are four different embryonic hemoglobins, Hemoglobin Gower 1, Hemoglobin Gower 2, Hemoglobin Portland 1 and Hemoglobin Portland 2.
curator note: Request inclusion into NCIT below "Hemoglobin"/"Normal Hemoglobin". Add sub-classes: Hemoglobin Gower 1 Hemoglobin Gower 2 Hemoglobin Portland 1 Hemoglobin Portland 2
definition source: Embryonic hemoglobin
definition source: R Al-Mufti, H Hambley, F Farzaneh, KH Nicolaides Haematologica Jan 2000, 85 (7) 690-693;
existence in other ontologies: None
hasExactSynonym: Hemoglobin Epsilon

Acute Symptomatic Seizure
type: Class
subclass of: Acute Phenotype
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed. It is often associated with infections, infarctions, and severe metabolic or sickle cell complications.
curator note: Suggest update to description in HPO.
definition source: HP_0011145
definition source: SCD Management guidelines - Jamaica
existence in other ontologies: Suggest update to description
database cross reference: HP:0011145
hasExactSynonym: Provoked Seizures
hasExactSynonym: Situation-Related Seizures

Homozygous Deletion of HBA1
type: Class
subclass of: Alpha-Globin Locus Deletion
definition: Deletion of both HBA1 genes, which results in an alpha-thal-2 (alpha-/alpha-) form of alpha thalassemia trait. With this deletion there is nearly normal production of red blood cells, but there may be a mild anemia.
curator note: Request inclusion into relevant ontology
definition source: Alpha Thalassemia
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Trans Deletion of HBA1

Structural Hemoglobinopathy
type: Class
subclass of: Hemoglobinopathy
definition: A hemoglobinopathy caused by the presence of structurally abnormal hemoglobins.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Qualitative Hemoglobinopathy

Chronic Arthritis
type: Class
subclass of: Arthritis
subclass of: Chronic Phenotype
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
definition: Persistence of an inflammatory event in the articulation overtime.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO

Vaso-Occlusion
type: Class
subclass of: Abnormal Cardiovascular System Morphology
definition: The obstruction of blood vessels by altered erythrocytes that can result in pain, anemia and tissue ischemia.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO

Right Upper Quadrant Syndrome
type: Class
subclass of: Phenotype of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
definition: Characterized by pain and discomfort in the right upper quadrant (RUQ) of the abdomen caused by a number of possible aetiologies in sickle cell disease. Causes of RUQ pain may be divided into pain originating from the liver or gall bladder versus other origins of abdominal pain in that region.
curator note: Request inclusion into relevant ontology
definition source: SCD Management guidelines - Jamaica
existence in other ontologies: Few but definitions not freely available
hasExactSynonym: RUQ Pain
hasExactSynonym: Right Upper Quadrant Pain

Biobank
type: Class
subclass of: Publication Formats
definition: A biobank is a collections of samples of biological substances (e.g. tissue, blood, DNA) which are linked to data about the samples and their donors. They have a dual nature as collections of samples and data and usually require investigators or institutions to agree to certain conditions as a condition for sharing samples or data with them.
curator note: Suggest update to description in OMIABIS
definition source: OMIABIS_0000000
definition source: index.cfm
existence in other ontologies: Suggest update to description
database cross reference: OMIABIS:0000000

Sickle Cell Anemia Associated with Alpha Thalassemia
type: Class
subclass of: Sickle Cell Disease
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Gap PCR
subclass of: Restriction
  on property: modifies
  some values from: Phenotype of Sickle Cell Disease
definition: The concurrence of sickle cell anemia and alpha-thalassemia. This condition is thought to result in less severe hemolytic anemia due to reduced concentration of hemoglobin S and its polymerization within red blood cells.
curator note: Request inclusion into relevant ontology
existence in other ontologies: Few but definitions not freely available
creator: SCDO (Clair Ingram)
dc:source: PMC4076272
hasExactSynonym: Co-Inheritance of Alpha-Thalassemia and Sickle Cell Anemia
hasExactSynonym: Co-Inheritance of Sickle Cell Anemia and Alpha-Thalassemia
hasExactSynonym: Sickle Cell Anemia Associated with Coexistent Alpha Thalassemia

Dental Radiograph
type: Class
subclass of: Radiography
definition: A radiograph of dental structures made on x-ray film or stored as a digital image. The radiographs may be extraoral or intraoral. Three common types of intraoral dental images are periapical, interproximal, and occlusal radiographs.
curator note: Request inclusion into relevant ontology
definition source: "dental radiograph." Mosby's Medical Dictionary, 8th edition. 2009. Elsevier 7 Nov. 2018 https://medical-dictionary.thefreedictionary.com/dental+radiograph
existence in other ontologies: None
hasExactSynonym: Radiologic Examination, Teeth

Iron Chelation Therapy
type: Class
subclass of: Symptomatic Therapeutics
subclass of: Restriction
  on property: treats
  some values from: Severe Anemia
subclass of: Restriction
  on property: treats
  some values from: Sickle Cell Disease-SD
subclass of: Restriction
  on property: treats
  some values from: Hemoglobin H Disease
subclass of: Restriction
  on property: treats
  some values from: Beta Zero Thalassemia
subclass of: Restriction
  on property: treats
  some values from: Hemoglobin Barts Hydrops Fetalis
definition: The removal of excess iron from the body with special drugs.
curator note: Request inclusion into MESH below "Chelation Therapy"
definition source: chelation-therapy
existence in other ontologies: None

Autonomy
type: Class
subclass of: Ethical Principle
definition: The capacity for self-governance, i.e. the ability to make reasonable decisions.
curator note: Request inclusion into relevant ontology
definition source: index.cfm
existence in other ontologies: Few but definitions not freely available
creator: SCDO
dc:source: https://www.hhs.gov/ohrp/sites/default/files/the-belmont-report-508c_FINAL.pdf

Central Retinal Artery Occlusion
type: Class
subclass of: Abnormal Cardiovascular System Morphology
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: Blockage of blood flow in the central retinal artery. Results in sudden painless loss of vision and occurs in children and young adults. Thrombus formation in the retinal artery occurs spontaneously or in association with hyphema, Moyamoya and acute chest sydrome. There is no associated pain and it may be unilateral or bilateral.
curator note: Suggest update to description in HPO
definition source: HP_0025342
definition source: SCD Management guidelines - Jamaica
existence in other ontologies: Suggest update to description
database cross reference: HP:0025342

Vertebral Collapse
type: Class
subclass of: Abnormality of the Skeletal System
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: Occurs where there is infarction of vertebral bone marrow, leading to collapse of the vertebrae with a typical 'fish mouth' appearance. It is often asymptomatic, but may cause acute and/or long term pain requiring analgesia and mechanical support such as a brace. Can be an acute or chronic bone problem in SCD.
curator note: Suggest update to description in HPO (currently no description).
definition source: HP_0002953
existence in other ontologies: Few but definitions not freely available
creator: SCDO
database cross reference: HP:0002953
hasExactSynonym: Compression Fracture
hasExactSynonym: Fractures of Vertebral Bodies
hasExactSynonym: Vertebral Body Compression
hasExactSynonym: Vertebral Compression
hasExactSynonym: Vertebral Compression Fractures
hasExactSynonym: Vertebral Compression or Collapse

Non-Maleficience
type: Class
subclass of: Ethical Principle
definition: Principle dictating that harm should not come to individuals as a result of their participation in a research project.
curator note: Request inclusion into relevant ontology
definition source: Shamoo AE and Resnik DB, Responsible Conduct of Research, 3rd ed. (New York: Oxford University Press, 2015).
existence in other ontologies: None

Folate Deficiency
type: Class
subclass of: SCDO_1000261
definition: A nutritional condition produced by a deficiency of folic acid in the diet.
definition source: EFO_0001070
is caused by: Alcohol interferes with its intermediate metabolism and absorption. Folic acid deficiency may develop in long-term anticonvulsant therapy or with use of oral contraceptives.
is characterised by: This deficiency causes anemia, macrocytic anemia, and megaloblastic anemia. It is indistinguishable from vitamin B 12 deficiency in peripheral blood and bone marrow findings, but the neurologic lesions seen in B 12 deficiency do not occur. (Merck Manual, 16th ed)
existence in other ontologies: Sufficient
previous identifier: SCDO:0009117
dc:source: EFO_0001070
database cross reference: EFO:0001070
hasExactSynonym: Deficiency of Folic Acid
hasExactSynonym: Deficiency of Folic Acid (Disorder)
hasExactSynonym: Folic Acid Deficiencies
hasExactSynonym: Folic Acid Deficiency

obsolete Sickle Plus Structural Variant
type: Class
subclass of: deprecated terms
definition: A hemoglobinopathy caused by compound heterozygous inheritance of one hemoglobin S allele and one hemoglobin allele that produces structurally abnormal hemoglobin.
definition source: PMC3552344
deprecated: true

Unstable Hemoglobin
type: Class
subclass of: Abnormal Hemoglobin
definition: Hemoglobin with decreased solubility in the red cell due to substitutions in the primary sequence of globin which alters the tertiary or quaternary structure of the molecule and results in a globin polypeptide/hemoglobin tetramer that is unstable and precipitates intracellularly, reducing the red blood cell lifespan.
curator note: Request inclusion in the HPO, below "Abnormal Hemoglobin".
definition source: unstable-hemoglobin-variants
existence in other ontologies: Few but definitions not freely available
creator: SCDO (Jade Hotchkiss)

Splenic Sequestration
type: Class
subclass of: Abnormality of the Spleen
subclass of: Restriction
  on property: caused by
  some values from: Vaso-Occlusion
subclass of: Restriction
  on property: has manifestation
  some values from: Reticulocytosis
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
subclass of: Restriction
  on property: in guideline
  some values from: ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
definition: An acute condition of intrasplenic pooling of large amounts of blood.
curator note: Suggest update to description in the Radiology Lexicon, or use their description "Splenic sequestration occurs in sickle cell disease when sickled red blood cells become trapped in the spleen, causing it to enlarge."
definition source: splenic-sequestration
existence in other ontologies: Suggest update to description
creator: SCDO
hasExactSynonym: Blood Trapped in the Spleen
comment: Can cause severely acute anemia.

Renal Papillary Necrosis
type: Class
subclass of: Abnormality of the Kidney
subclass of: Restriction
  on property: in guideline
  some values from: Recommendations for the Management of Sickle Cell Disease in South Africa
subclass of: Restriction
  on property: in guideline
  some values from: National Guideline for the Control and Management of Sickle Cell Disease
subclass of: Restriction
  on property: in guideline
  some values from: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
subclass of: Restriction
  on property: in guideline
  some values from: Evidence-Based Management of Sickle Cell Disease
definition: A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure.
definition source: http://www.ebi.ac.uk/efo/EFO_1001004
existence in other ontologies: Sufficient
previous identifier: SCDO:0009445
database cross reference: EFO:1001004
hasExactSynonym: Kidney Papillary Necrosis
hasExactSynonym: Necrotising Renal Papillitis
hasExactSynonym: Necrotizing Renal Papillitis
hasExactSynonym: Papillary Necrosis
hasExactSynonym: Papillary Necrosis (Disorder)
hasExactSynonym: Renal Papillitis Necrotizing

obsolete Molecule
type: Class
subclass of: deprecated terms
definition: 'Any single chemical entity that is an electrically neutral entity consisting of more than one atom. Each atom carries a certain number of electrons that orbit around the nucleus.[Curator team: []]'
definition source: http://purl.obolibrary.org/obo/CHEBI_25367
database cross reference: CHEBI:25367
deprecated: true

Beneficence
type: Class
subclass of: Ethical Principle
definition: Effort made to secure the well-being of persons, maximizing possible benefits and minimizing possible harms.
definition source: https://www.hhs.gov/ohrp/sites/default/files/the-belmont-report-508c_FINAL.pdf
existence in other ontologies: Few but definitions not specific enough
creator: SCDO
database cross reference: MESH:D026686

Protein Phenotype
type: Class
subclass of: Biochemical Phenotype
definition: The physical characteristics and levels of proteins that characterize the state in a cell or tissue and that result from the interaction of its genotype and the environment.
curator note: Request inclusion into BioAssay Ontology below "biochemical phenotype". Can all sub-classes of the "Gene Product" class not be included here? Can this class not be removed but its sub-classes kept?
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

deprecated Low Reticulocyte Count
type: Class
subclass of: deprecated terms
definition: An abnormally low number of reticulocytes per unit volume of blood.
term replaced by: SCDO_0001423
curator note: Request inclusion into relevant ontology Symptom of aplastic crisis, possibly due to parvovirus B19 infection. Is there a certain value below which is considered a low reticulocyte count?
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)
dc:source: Reticulocyte
deprecated: true

deprecated Aplastic Crises
type: Class
subclass of: from phenotype
definition: 'The aplastic crisis is temporary cessation of red cell production. This usually affect sickle cell patients, because of the markedly shortened red cell survival time in patients with sickle cell disease, a precipitous drop in hemoglobin occurs in the absence of adequate reticulocytosis. [Curator team: []]'
term replaced by: Aplastic Crisis
definition source: http://www.ihtc.org/medical-professionals/blood-disorders/sickle-cell-disease/aplastic-crisis-intervention/
deprecated: true

Abdominal Vaso-Occlusive Crisis
type: Class
subclass of: Vaso-Occlusive Crisis
subclass of: Restriction
  on property: in guideline
  some values from: Management of Sickle Cell Disease - The United Republic of Tanzania
subclass of: Restriction
  on property: in guideline
  some values from: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
subclass of: Restriction
  on property: in guideline
  some values from: Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
definition: Pain resulting from tissue ischemia as a result of blockage of mesenteric blood vessels.
curator note: Request inclusion into relevant ontology
definition source: Akingbola TS, Kolude B, Aneni EC, et al. ABDOMINAL PAIN IN ADULT SICKLE CELL DISEASE PATIENTS: A NIGERIAN EXPERIENCE. Annals of Ibadan Postgraduate Medicine. 2011;9(2):100-104.
definition source: SCD Management guidelines - Tanzania
is characterised by: Abdominal distension with generalised abdominal tenderness (no rebound tenderness) and reduced bowel sounds. Abdomen moves with respiration. Vomiting/diarrhoea are not common.
existence in other ontologies: None

Beta Thalassemia Mutation
type: Class
subclass of: Mutation
subclass of: Restriction
  on property: causes condition
  some values from: Beta Thalassemia Trait
definition: A mutation in the beta-globin gene, HBB, that causes decreased or absent beta-globin synthesis.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO

Other HBB Variants
type: Class
subclass of: SCD Causal Mutation
definition: A genetic mutation in the HBB gene that results in absent or decreased hemoglobin subunit beta or an abnormal hemoglobin other than Hb S.
curator note: Too specific to SCD to be included in other ontologies.
existence in other ontologies: None
creator: SCDO

Biochemical Phenotype
type: Class
subclass of: Molecular Phenotype
definition: The proteins and their post-translational modifications, lipids, carbohydrates and small molecules that characterize the state in a cell or tissue and that result from the interaction of its genotype and the environment.
definition source: details
existence in other ontologies: Sufficient
previous identifier: SCDO:0009884
database cross reference: BAO:0170003

obsolete Other Genotypes
type: Class
subclass of: deprecated terms
definition: 'Genotypes which are not specific to sickle cell trait.'
deprecated: true

Research Ethics
type: Class
subclass of: Ethics
subclass of: Research Characteristics
definition: The moral obligations governing the conduct of research. Used for discussions of research ethics as a general topic.
definition source: http://purl.bioontology.org/ontology/MESH/D032984
existence in other ontologies: Sufficient
previous identifier: SCDO:0300002
database cross reference: MESH:D032984

Publication Formats
type: Class
subclass of: Research
definition: Specific genre of publication.
definition source: http://purl.bioontology.org/ontology/MESH/D052180
existence in other ontologies: Sufficient
previous identifier: SCDO:0300003
database cross reference: MESH:D052180

Epidemiologic Study Characteristics
type: Class
subclass of: Epidemiologic Studies
definition: Types and formulations of studies used in epidemiological and clinical research.
curator note: Suggest update to description in MESH
definition source: http://purl.bioontology.org/ontology/MESH/D016020
existence in other ontologies: Suggest update to description
database cross reference: MESH:D016020

Research Characteristics
type: Class
subclass of: Research
definition: Elements, types, descriptions and formulations of a research study.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Gaston K. Mazandu)

Information Disclosure
type: Class
subclass of: Confidentiality
definition: Revealing of information, by oral or written communication.
definition source: http://purl.bioontology.org/ontology/MESH/D030881
existence in other ontologies: Sufficient
previous identifier: SCDO:0300006
database cross reference: MESH:D030881

Parental Notification
type: Class
subclass of: Information Disclosure
definition: Reporting to parents or guardians about care to be provided to a minor (minors).
definition source: http://purl.bioontology.org/ontology/MESH/D035622
existence in other ontologies: Sufficient
previous identifier: SCDO:0300007
database cross reference: MESH:D035622

Mandatory Reporting
type: Class
subclass of: Information Disclosure
definition: A legal requirement that designated types of information acquired by professionals or institutions in the course of their work be reported to appropriate authorities.
definition source: http://purl.bioontology.org/ontology/MESH/D019221
existence in other ontologies: Sufficient
previous identifier: SCDO:0300008
database cross reference: MESH:D019221

Data Anonymization
type: Class
subclass of: Confidentiality
definition: Making information permanently non-identifiable that is associated with the identity of specific entities via encryption or other methods.
curator note: Suggest update to description in MESH
definition source: http://purl.bioontology.org/ontology/MESH/D000068240
existence in other ontologies: Suggest update to description
database cross reference: MESH:D000068240
hasExactSynonym: Data De-Identification
hasExactSynonym: Data Masking
hasExactSynonym: De-Identification

Acute Phenotype
type: Class
subclass of: Abnormal Phenotype
definition: An observable characteristic of disease that has a severe and rapid onset of symptoms with short duration.
curator note: Request inclusion into relevant ontology
definition source: http://purl.obolibrary.org/obo/NCIT_C14140
definition source: http://semanticscience.org/resource/SIO_010056
existence in other ontologies: None
creator: SCDO (Clair Ingram)

deprecated Research Subject ID
type: Class
subclass of: deprecated terms
definition: A unique identifier generated either manually or electronically when adding a subject to a study.
term replaced by: SCDO_1000469
deprecated: true

Renal Replacement Therapy
type: Class
subclass of: Supportive Therapeutics
subclass of: Restriction
  on property: treats
  some values from: Kidney Failure
subclass of: Restriction
  on property: treats
  some values from: Exercise-Induced Rhabdomyolysis
definition: Procedures which temporarily or permanently remedy insufficient cleansing of body fluids by the kidneys.
curator note: Could this and it's sub-classes not fall below any of the other main Therapeutics classes? Symptomatic?
definition source: http://purl.bioontology.org/ontology/MESH/D017582
existence in other ontologies: Sufficient
previous identifier: SCDO:1000004
database cross reference: MESH:D017582

Hemoglobin D
type: Class
subclass of: Abnormal Hemoglobin
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, SER9TYR
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU121GLN
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLY16ARG
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, ASN19LYS
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU22GLN
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU22VAL
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, THR87LYS
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU121ALA
definition: An abnormal hemoglobin caused by various point mutations within the HBB gene. This form of hemoglobin prevents red blood cells from carrying oxygen effectively. There are at least 8 different types of hemoglobin D.
curator note: Request inclusion in the HPO, below "Abnormal Hemoglobin".
definition source: Hb-F-S-D
definition source: S1516848415000316
existence in other ontologies: Few but definitions not freely available
hasExactSynonym: Haemoglobin D
hasExactSynonym: Hb D
hasExactSynonym: HbD

Hemoglobin M
type: Class
subclass of: Abnormal Hemoglobin
definition: A group of abnormal hemoglobins in which amino acid substitutions take place in either the alpha, beta or gamma chains but near the heme iron. This results in facilitated oxidation of the hemoglobin to yield excess methemoglobin which leads to cyanosis.
curator note: Suggest update to description in MESH (to include "gamma chains") Suggest this term replaces "Methemoglobinemia" below "Abnormal Hemoglobin" in the HPO.
definition source: http://purl.bioontology.org/ontology/MESH/D006449
existence in other ontologies: Suggest update to description
database cross reference: MESH:D006449
hasExactSynonym: Hb M
hasExactSynonym: HbM Hemoglobin

Hemoglobin E
type: Class
subclass of: Abnormal Hemoglobin in SCD
subclass of: Abnormal Hemoglobin
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU26LYS
definition: An abnormal hemoglobin that results from the substitution of lysine for glutamic acid at position 26 of the beta chain. It is most frequently observed in southeast Asian populations.
curator note: Request inclusion in the HPO, below "Abnormal Hemoglobin", for the sake of completion.
definition source: http://purl.bioontology.org/ontology/MESH/D006446
existence in other ontologies: Sufficient
previous identifier: SCDO:1000009
database cross reference: MESH:D006446
hasExactSynonym: Hb E

Sickle Cell Disease-S/HPFH
type: Class
subclass of: SCDO_1000163
subclass of: SCDO_1000215
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Genetic Testing
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Gap PCR
subclass of: Restriction
  on property: has causal genotype
  some values from: Hemoglobin Genotype S/HPFH
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBG1 and/or HBG2 Mutations
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, 106-KB DEL
subclass of: Restriction
  on property: has manifestation
  some values from: Splenomegaly
subclass of: Restriction
  on property: has manifestation
  some values from: Osteonecrosis
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Increased Hemoglobin F
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin S
definition: A group of disorders caused by large deletions of the beta-globin gene complex; typically 30% fetal haemoglobin.
curator note: Request inclusion into relevant ontology
definition source: http://ac.els-cdn.com/S014067361061029X/1-s2.0-S014067361061029X-main.pdf
existence in other ontologies: None
hasExactSynonym: HPFH-Sickle Cell Disease Syndrome
hasExactSynonym: Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome
hasExactSynonym: Sickle Cell Disease Syndrome-Hereditary Persistence of Fetal Hemoglobin
hasExactSynonym: Sickle Cell Disease-S/Persistence of Fetal Hemoglobin
hasExactSynonym: Sickle Cell-Hereditary Persistence of Fetal Hemoglobin

Beta-Globin Family Members
type: Class
subclass of: Globin Phenotype
subclass of: Hemoglobin Subunits
definition: Members of the beta-globin family. In humans, they are encoded in a gene cluster on chromosome 11. They include hemoglobin subunit epsilon, hemoglobin subunit gamma, hemoglobin subunit delta and hemoglobin subunit beta. There is also a pseudogene of beta (theta-beta) in the gene cluster. Adult hemoglobin is comprised of two alpha globin chains and two beta-globin chains.
definition source: D055544
existence in other ontologies: Sufficient
previous identifier: SCDO:1000012
database cross reference: MESH:D055544
hasExactSynonym: Beta-Globins

HBB
type: Class
subclass of: SCDO_1000362
definition: This gene encodes the hemoglobin subunit beta and is located on chromosome 11 mapped at 11p15.5.
curator note: Request inclusion into relevant ontology
definition source: http://bioportal.bioontology.org/ontologies/GEXO
existence in other ontologies: Negligable
database cross reference: NCBIGene:3043
hasExactSynonym: Beta-Globin Gene
hasExactSynonym: HBB Gene
hasExactSynonym: HBB1
hasExactSynonym: Hemoglobin Beta Gene
hasExactSynonym: Hemoglobin Beta Locus
hasExactSynonym: Hemoglobin Subunit Beta Gene

HBD
type: Class
subclass of: SCDO_1000362
definition: This gene encodes the hemoglobin subunit delta, which is a component of hemoglobin A2, which plays a role in the transport of oxygen to tissues of the adult body, but exists only in small amounts in all adult humans (1.5-3.1% of all hemoglobin molecules).
curator note: Suggest update to description in NCIT
definition source: HBD
definition source: http://purl.obolibrary.org/obo/NCIT_C84961
existence in other ontologies: Suggest update to description
database cross reference: NCIT:C84961
hasExactSynonym: HBD Gene
hasExactSynonym: Hemoglobin Delta Gene
hasExactSynonym: Hemoglobin Subunit Delta Gene

Hemoglobin O-Arab
type: Class
subclass of: Abnormal Hemoglobin in SCD
subclass of: Abnormal Hemoglobin
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU121LYS
definition: An abnormal hemoglobin that results from the substitution of glutamic acid with lysine at position 121 of the beta chain.
curator note: Request inclusion in the HPO, below "Abnormal Hemoglobin".
definition source: MESH and Zimmerman SA. Am J Hematol. 1999 Apr; 60(4) 279-84
existence in other ontologies: Few but definitions not freely available
hasExactSynonym: Hb O-Arab
hasExactSynonym: Hb-Arab
hasExactSynonym: Hemoglobin-Arab

Surgery
type: Class
subclass of: Symptomatic Therapeutics
subclass of: Restriction
  on property: treats
  some values from: Mononeuropathy
subclass of: Restriction
  on property: treats
  some values from: Hypergonadotropic Hypogonadism
subclass of: Restriction
  on property: treats
  some values from: Hyperkeratosis
subclass of: Restriction
  on property: treats
  some values from: Dysarthria
subclass of: Restriction
  on property: treats
  some values from: Cerebral Hemorrhage
subclass of: Restriction
  on property: treats
  some values from: Renal Artery Stenosis
subclass of: Restriction
  on property: treats
  some values from: Subarachnoid Hemorrhage
subclass of: Restriction
  on property: treats
  some values from: Nail Dysplasia
subclass of: Restriction
  on property: treats
  some values from: Intracranial Hemorrhage
subclass of: Restriction
  on property: treats
  some values from: Cervical Cord Compression
subclass of: Restriction
  on property: treats
  some values from: Scoliosis
subclass of: Restriction
  on property: treats
  some values from: Bone Pain
subclass of: Restriction
  on property: treats
  some values from: Lymphoma
subclass of: Restriction
  on property: treats
  some values from: Kyphosis
subclass of: Restriction
  on property: treats
  some values from: Spondylolisthesis
subclass of: Restriction
  on property: treats
  some values from: Back Pain
subclass of: Restriction
  on property: treats
  some values from: Peripheral Neuropathy
subclass of: Restriction
  on property: treats
  some values from: Facial Nerve Palsy
subclass of: Restriction
  on property: treats
  some values from: Osteonecrosis
subclass of: Restriction
  on property: treats
  some values from: Sciatica
subclass of: Restriction
  on property: treats
  some values from: Hyphema
subclass of: Restriction
  on property: treats
  some values from: Onychomycosis
subclass of: Restriction
  on property: treats
  some values from: Brain Abscess
subclass of: Restriction
  on property: treats
  some values from: Endometriosis
subclass of: Restriction
  on property: treats
  some values from: Hyperostosis
subclass of: Restriction
  on property: treats
  some values from: Ophthalmologic Complication
subclass of: Restriction
  on property: treats
  some values from: Cancer
subclass of: Restriction
  on property: treats
  some values from: Glaucoma (Secondary to Presence of Blood in the Anterior Chamber of the Eye)
subclass of: Restriction
  on property: treats
  some values from: Intracranial Hypotension
subclass of: Restriction
  on property: treats
  some values from: Osteomyelitis
subclass of: Restriction
  on property: treats
  some values from: Transient Monocular Blindness
definition: A material processing technique that uses operative manual and instrumental techniques on a patient to investigate and/or treat a pathological condition such as disease or injury or to help improve bodily function or appearance.
definition source: http://purl.obolibrary.org/obo/ERO_0000378
existence in other ontologies: Sufficient
previous identifier: SCDO:1000017
database cross reference: ERO:0000378

Treatment of Precipitating Factors
type: Class
subclass of: Therapeutics
subclass of: Restriction
  on property: treats
  some values from: Mononeuropathy
subclass of: Restriction
  on property: treats
  some values from: Kidney Failure
subclass of: Restriction
  on property: treats
  some values from: Glomerulosclerosis
subclass of: Restriction
  on property: treats
  some values from: Glomerulonephritis
subclass of: Restriction
  on property: treats
  some values from: Nephritis
subclass of: Restriction
  on property: treats
  some values from: Hypergonadotropic Hypogonadism
subclass of: Restriction
  on property: treats
  some values from: Delayed Puberty
subclass of: Restriction
  on property: treats
  some values from: Hyperparathyroidism
subclass of: Restriction
  on property: treats
  some values from: Jaundice
subclass of: Restriction
  on property: treats
  some values from: Cyanosis
subclass of: Restriction
  on property: treats
  some values from: Petechiae
subclass of: Restriction
  on property: treats
  some values from: Pallor
subclass of: Restriction
  on property: treats
  some values from: Polyneuropathy
subclass of: Restriction
  on property: treats
  some values from: Encephalopathy
subclass of: Restriction
  on property: treats
  some values from: Intrauterine Growth Restriction
subclass of: Restriction
  on property: treats
  some values from: Hydrops Fetalis
subclass of: Restriction
  on property: treats
  some values from: Interstitial Nephritis
subclass of: Restriction
  on property: treats
  some values from: Frontal Bossing
subclass of: Restriction
  on property: treats
  some values from: Azotaemia
subclass of: Restriction
  on property: treats
  some values from: Arthralgia
subclass of: Restriction
  on property: treats
  some values from: Granulomatosis
subclass of: Restriction
  on property: treats
  some values from: Myopathy
subclass of: Restriction
  on property: treats
  some values from: Back Pain
subclass of: Restriction
  on property: treats
  some values from: Hemoglobinuria
subclass of: Restriction
  on property: treats
  some values from: Leg Weakness
subclass of: Restriction
  on property: treats
  some values from: Peripheral Neuropathy
subclass of: Restriction
  on property: treats
  some values from: Facial Nerve Palsy
subclass of: Restriction
  on property: treats
  some values from: Increased Bone Mineral Density
subclass of: Restriction
  on property: treats
  some values from: Morbilliform Rash
subclass of: Restriction
  on property: treats
  some values from: Diuresis
subclass of: Restriction
  on property: treats
  some values from: Impaired Wound Healing
subclass of: Restriction
  on property: treats
  some values from: Ophthalmologic Complication
subclass of: Restriction
  on property: treats
  some values from: Ataxia
subclass of: Restriction
  on property: treats
  some values from: Albuminuria
subclass of: Restriction
  on property: treats
  some values from: Coma
subclass of: Restriction
  on property: treats
  some values from: Growth Delay
subclass of: Restriction
  on property: treats
  some values from: Membranous Nephropathy
subclass of: Restriction
  on property: treats
  some values from: Nephrotic Syndrome
subclass of: Restriction
  on property: treats
  some values from: Nephrotic Range Proteinuria
subclass of: Restriction
  on property: treats
  some values from: Oliguria
subclass of: Restriction
  on property: treats
  some values from: Osteomalacia
subclass of: Restriction
  on property: treats
  some values from: Pain
subclass of: Restriction
  on property: treats
  some values from: Proteinuria
subclass of: Restriction
  on property: treats
  some values from: Renal Tubular Acidosis
subclass of: Restriction
  on property: treats
  some values from: Steroid-Resistant Nephrotic Syndrome
subclass of: Restriction
  on property: treats
  some values from: Transient Monocular Blindness
subclass of: Restriction
  on property: treats
  some values from: SCDO_1000224
subclass of: Restriction
  on property: treats
  some values from: SYMP_0019161
definition: Treatment of factors associated with the definitive onset of a disease, illness, accident, behavioral response, or course of action. Usually one factor is more important or more obviously recognizable than others, if several are involved, and one may often be regarded as necessary. Examples include exposure to specific disease; amount or level of an infectious organism, drug, or noxious agent, etc.
curator note: Request inclusion into relevant ontology
definition source: http://purl.bioontology.org/ontology/MESH/D015985
existence in other ontologies: None
creator: SCDO
hasExactSynonym: Management of Precipitating Factors
hasExactSynonym: Management of Underlying Cause
hasExactSynonym: Treatment of Underlying Cause

obsolete Evidence Code
type: Class
subclass of: deprecated terms
definition: 'Every annotation must be attributed to a source, which may be a literature reference, another database or a computational analysis. The annotation must indicate what kind of evidence is found in the cited source to support the association between the gene product and the GO term. A simple controlled vocabulary is used to record evidence; and the evidence codes are simply the three-letter codes used to signify the type of evidence cited. [Curator team: Exact []]'
curator note: The information in this class and its sub-classes will be migrated to evidence code properties.
definition source: http://www.geneontology.org/faq/what-evidence-code
deprecated: true

obsolete IEA (inferred from electronic annotation)
type: Class
subclass of: obsolete Evidence Code
definition: 'Used for annotations that depend directly on computation or automated transfer of annotations from a database, particularly when the analysis is performed internally and not published. A key feature that distinguishes this evidence code from others is that it is not made by a curator; use IEA when no curator has checked the specific annotation to verify its accuracy. [Curator team: Exact []]'
definition source: http://geneontology.org/page/automatically-assigned-evidence-codes
deprecated: true

obsolete PCS (published clinical study)
type: Class
subclass of: obsolete Evidence Code
definition: 'This should be used for information extracted from articles in the medical literature. [Curator team: []]'
deprecated: true

obsolete ICE (individual clinical experience)
type: Class
subclass of: obsolete Evidence Code
definition: 'Can be used for annotations based on individual clinical experience. [Curator team: []]'
deprecated: true

obsolete ITM (inferred by text-mining)
type: Class
subclass of: obsolete Evidence Code
definition: 'Not described [Curator team: []]'
deprecated: true

obsolete TAS (traceable author statement)
type: Class
subclass of: obsolete Evidence Code
definition: 'Usually reviews or disease entries (e.g. OMIM) that only refers to the original publication. [Curator team: []]'
deprecated: true

obsolete NAS (non-traceable author statement)
type: Class
subclass of: obsolete Evidence Code
definition: 'used in all cases where the author makes a statement that a curator wants to capture but for which there are neither results presented nor a specific reference cited in the source used to make the annotation. [Curator team: []]'
definition source: http://www.geneontology.org/page/nas-non-traceable-author-statement
deprecated: true

obsolete IC (inferred by curator)
type: Class
subclass of: obsolete Evidence Code
definition: 'Used for those cases where an annotation is not supported by any direct evidence, but can be reasonably inferred by a curator from other annotations, for which evidence is available. [Curator team: []]'
definition source: http://www.geneontology.org/page/ic-inferred-curator
deprecated: true

from personal attribute
type: Class
subclass of: deprecated terms
definition: Terms deprecated in the "Personal Attribute" class.

Diagnostic Tool
type: Class
subclass of: Diagnostics
definition: A diagnostic instrument, technique, laboratory assay or test, or method of patient examination used for differential diagnosis.
curator note: Request inclusion into relevant ontology.
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Diagnostic Instrument
type: Class
subclass of: Diagnostic Tool
definition: A research instrument consisting of a series of questions and other prompts for the purpose of gathering information from respondents to assist with differential diagnosis.
curator note: Request inclusion into relevant ontology
definition source: http://en.wikipedia.org/wiki/Questionnaire
existence in other ontologies: Few but definitions not freely available
hasExactSynonym: Diagnostic Questionnaire

from diagnostics
type: Class
subclass of: deprecated terms
definition: Terms deprecated in the "Diagnostics" class.

from therapeutics
type: Class
subclass of: deprecated terms
definition: Terms deprecated in the "Therapeutics" class.

Hemoglobin C Present
type: Class
subclass of: Abnormal Hemoglobin Concentration
definition: When the abnormal hemoglobin, hemoglobin C (HbC), has been detected in a blood sample.
existence in other ontologies: Few but definitions not available
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Haemoglobin C Present
hasExactSynonym: Haemoglobin C in Blood
hasExactSynonym: HbC Present
hasExactSynonym: HbC in Blood
hasExactSynonym: Hemoglobin C in Blood

Abnormality of the Cerebral Vasculature
type: Class
subclass of: Abnormality of the Vasculature
definition: An abnormality of the cerebral vasculature.
definition source: HP_0100659
existence in other ontologies: Few but definitions not available
database cross reference: HP:0100659
hasExactSynonym: Abnormality of the Cerebral Blood Vessels
hasExactSynonym: Cerebrovascular Disorder

SCD Causal Mutation
type: Class
subclass of: Mutation
definition: A mutation wholly or partly responsible for causing a sickle cell disease.
curator note: Request inclusion into relevant ontology B-Thal mutations: -- http://onlinelibrary.wiley.com/doi/10.1111/j.1582-4934.2004.tb00278.x/pdf -- https://www.ncbi.nlm.nih.gov/pubmed/15153712
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

HBB, GLU6VAL
type: Class
subclass of: SCD Causal Mutation
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Sickle Cell Disease-SS
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Sickle Cell Trait
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Sickle Cell Disease-SC
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Sickle Cell Disease-S/D-Punjab
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Sickle Cell Disease-SE
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Sickle Cell Disease-S/Lepore Boston
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Sickle Cell Disease-S/O-Arab
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Sickle Cell Disease-S/HPFH
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Sickle Cell Disease-S/C-Harlem
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Sickle Cell Disease-S/Quebec Chori
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Sickle Cell Disease-S/S-South End
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: SCDO_1000164
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: SCDO_1000165
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: SCDO_1000166
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: SCDO_1000205
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype SC
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype S/D-Punjab
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype S/O-Arab
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype SE
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype SS
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype SD
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype S/C-Harlem
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype S/Beta Zero Thalassaemia
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype S/HPFH
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype S/Lepore Boston
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype A/Jamaica Plain
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype A/S-Oman
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype C/S Antilles
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype S/Quebec-Chori
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype S/S-South End
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype S/Beta Thalassemia
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype S/Beta Minus Thalassaemia
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype AS
subclass of: Restriction
  on property: causes or contributes to molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: causes or contributes to molecular phenotype
  some values from: Hemoglobin C-Harlem
subclass of: Restriction
  on property: causes or contributes to molecular phenotype
  some values from: Hemoglobin Jamaica Plain
subclass of: Restriction
  on property: causes or contributes to molecular phenotype
  some values from: Hemoglobin S-Antilles
subclass of: Restriction
  on property: causes or contributes to molecular phenotype
  some values from: Hemoglobin S-Oman
subclass of: Restriction
  on property: causes or contributes to molecular phenotype
  some values from: Hemoglobin S-South End
definition: The glutamic acid in position 6 in the primary sequence of a beta-chain produced by the HBB gene is replaced by valine.
curator note: Request inclusion into relevant ontology
definition source: http://www.bloodjournal.org/content/bloodjournal/46/3/363.full.pdf
existence in other ontologies: Negligable
hasExactSynonym: Beta S Mutation
hasExactSynonym: E6V
hasExactSynonym: Glu6Val
hasExactSynonym: Sickle Cell Mutation

HBB, GLU121LYS
type: Class
subclass of: Other HBB Variants
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Hemoglobin O-Arab Disease
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Hemoglobin O-Arab Trait
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Sickle Cell Disease-S/O-Arab
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: SCDO_1000165
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype S/O-Arab
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype A/S-Oman
subclass of: Restriction
  on property: contributes to genotype
  some values from: SCDO_1000228
subclass of: Restriction
  on property: contributes to genotype
  some values from: SCDO_1000231
subclass of: Restriction
  on property: causes or contributes to molecular phenotype
  some values from: Hemoglobin O-Arab
subclass of: Restriction
  on property: causes or contributes to molecular phenotype
  some values from: Hemoglobin S-Oman
definition: A mutation where the glutamic acid in position 121 in the primary sequence of a beta-chain produced by the HBB gene is replaced by lysine. This mutation is found as a single alteration in Hemoglobin O-Arab and is one of the two contributing mutations to the production of Hemoglobin S-Oman.
curator note: Request inclusion into relevant ontology
definition source: https://www.omim.org/entry/141900#0202
definition source: https://www.omim.org/entry/141900#0245
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Beta O-Arab Mutation
hasExactSynonym: Contributing Beta S-Oman Mutation
hasExactSynonym: Glu121Lys

HBB, GLU6LYS
type: Class
subclass of: Other HBB Variants
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Hemoglobin C Disease
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Hemoglobin C Trait
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Sickle Cell Disease-SC
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: SCDO_1000166
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype SC
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype C/S Antilles
subclass of: Restriction
  on property: contributes to genotype
  some values from: SCDO_1000225
subclass of: Restriction
  on property: contributes to genotype
  some values from: SCDO_1000232
subclass of: Restriction
  on property: causes or contributes to molecular phenotype
  some values from: Hemoglobin C
definition: A mutation where the glutamic acid in position 6 in the primary sequence of a beta-chain produced by the HBB gene is replaced by lysine. This mutation results in the production of Hemoglobin C and confers resistance to malaria.
curator note: Request inclusion into relevant ontology
definition source: http://omim.org/entry/141900#0038
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Beta C mutation
hasExactSynonym: HbC Mutation

HBB, GLU26LYS
type: Class
subclass of: Beta-Minus Thalassemia Mutation
subclass of: Other HBB Variants
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Hemoglobin E Trait
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Sickle Cell Disease-SE
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype SE
subclass of: Restriction
  on property: contributes to genotype
  some values from: SCDO_1000227
subclass of: Restriction
  on property: contributes to genotype
  some values from: SCDO_1000229
subclass of: Restriction
  on property: causes or contributes to molecular phenotype
  some values from: Hemoglobin E
definition: A mutation in the HBB gene causing substitution of glutamic acid for lysine at the 26th position of the beta-globin chain.
curator note: Request inclusion into relevant ontology
definition source: uk-HbE.pdf
definition source: https://www.omim.org/entry/141900#0071
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Beta E Mutation
hasExactSynonym: HbE Mutation

Gender Identity
type: Class
subclass of: Personal Attribute
definition: A person's concept of self as being male and masculine or female and feminine, or ambivalent, based in part on physical characteristics, parental responses, and psychological and social pressures. It is the internal experience of gender role.
definition source: D005783
existence in other ontologies: Sufficient
previous identifier: SCDO:1000043
database cross reference: MESH:D005783

HBB, ASP73ASN
type: Class
subclass of: Other HBB Variants
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Sickle Cell Disease-S/C-Harlem
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: SCDO_1000205
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype S/C-Harlem
subclass of: Restriction
  on property: causes or contributes to molecular phenotype
  some values from: Hemoglobin C-Harlem
definition: A mutation where the aspartic acid in position 73 in the primary sequence of a beta-chain produced by the HBB gene is replaced by asparagine. This mutation is found as a single alteration in Hemoglobin Korle Bu and is one of the two contributing mutations to the production of Hemoglobin C-Harlem.
curator note: Request inclusion into relevant ontology
definition source: http://www.bloodjournal.org/content/bloodjournal/46/3/363.full.pdf
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Asp73Asn
hasExactSynonym: D73N

HBB, VAL23ILE
type: Class
subclass of: Other HBB Variants
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: SCDO_1000166
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype C/S Antilles
subclass of: Restriction
  on property: causes or contributes to molecular phenotype
  some values from: Hemoglobin S-Antilles
definition: A mutation where the valine in position 23 in the primary sequence of a beta-chain produced by the HBB gene is replaced by isoleucine. When compounded with the HbS mutation in the same gene, the sickling Hemoglobin S-Antilles is produced.
curator note: Request inclusion into relevant ontology
definition source: http://omim.org/entry/141900#0244
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Contributing Beta S-Antilles Mutation
hasExactSynonym: Contributing Hb S-Antilles Mutation

HBB, THR87ILE
type: Class
subclass of: Other HBB Variants
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Sickle Cell Disease-S/Quebec Chori
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype S/Quebec-Chori
subclass of: Restriction
  on property: causes or contributes to molecular phenotype
  some values from: Hemoglobin Quebec Chori
definition: A mutation where the threonine in position 87 in the primary sequence of a beta-chain produced by the HBB gene is replaced by isoleucine. This mutation is found as a single alteration in Hemoglobin Quebec-Chori. Compound heterozygosity for Hb Quebec-chori and Hb S results in sickle cell disease.
curator note: Request inclusion into relevant ontology
definition source: http://omim.org/entry/141900#0403
definition source: Witkowska, H. E., Lubin, B. H., Beuzard, Y., Baruchel, S., Esseltine, D. W., Vichinsky, E. P., Kleman, K. M., Bardakdjian-Michau, J., Pinkoski, L., Cahn, S., Roitman, E., Green, B. N., Falick, A. M., Shackleton, C. H. L. Sickle cell disease in a patient with sickle cell trait and compound heterozygosity for hemoglobin S and hemoglobin Quebec-Chori. New Eng. J. Med. 325: 1150-1154, 1991.
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Hb Quebec-Chori Mutation

HBB, LEU68PHE
type: Class
subclass of: Other HBB Variants
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: SCDO_1000164
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype A/Jamaica Plain
subclass of: Restriction
  on property: causes or contributes to molecular phenotype
  some values from: Hemoglobin Jamaica Plain
definition: A mutation where the leusine residue in position 6 in the primary sequence of a beta-chain produced by the HBB gene is replaced by phenylalanine. This mutation on its own produces a stable hemoglobin that does not result in hemolysis (Hb Rockford), but when in combination with the Hb S mutation (HBB, GLU6VAL), the symptomatic Hb Jamaica Plain is produced.
curator note: Request inclusion into relevant ontology
definition source: http://omim.org/entry/141900#0524
definition source: Perrault, J., Fairbanks, V. F., McCormick, D. J., Kubik, K., Madden, B. J., Holmes, M. W., Hoyer, J. D. Hemoglobin Rockford, beta68(E12)leu-to-phe: a new HB variant associated with mild anemia. (Abstract) Blood 90 (Suppl. 1): 30b, 1997.
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Contributing Hb Jamaica Plain Mutation

SCD Genotype
type: Class
subclass of: Genotype
subclass of: Restriction
  on property: modifies
  some values from: Phenotype of Sickle Cell Disease
definition: The alleles, or variant forms of the HBB gene, that are carried by an SCD sufferer.
curator note: Probably too specific to be included in other ontologies. Paper mentioning haplotypes and severity: -- https://www.nature.com/scitable/topicpage/sickle-cell-anemia-a-look-at-global-8756219 -- -- Table of SCD Genotypes: -- http://onlinelibrary.wiley.com/doi/10.1111/j.1582-4934.2004.tb00278.x/pdf -- -- HBB allelic variants: -- https://www.omim.org/entry/141900#0243 -- -- Perhaps have parent class Hemoglobinopathy Genotype, with Hemoglobinopathy Trait below that?
definition source: http://www.nature.com/scitable/definition/genotype-234
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
dc:source: PMC4459467
hasExactSynonym: Sickle Cell Disease Genotype
hasExactSynonym: Sickle Genotype

Hemoglobin Genotype SC
type: Class
subclass of: SCD Genotype
subclass of: Restriction
  on property: causes condition
  some values from: Sickle Cell Disease-SC
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU6LYS
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin C
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin S
definition: The genotype when an individual has the Hb C gene from one parent and the Hb S gene from the other. Individuals with Hb SC have similar symptoms to individuals with Hb SS, however, the anemia is less severe.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
dc:source: D006450
hasExactSynonym: Haemoglobin Genotype SC
hasExactSynonym: SC Genotype
hasExactSynonym: beta6Glu>Val/beta6Glu>Lys

Hemoglobin Genotype S/D-Punjab
type: Class
subclass of: Hemoglobin Genotype SD
subclass of: Restriction
  on property: causes condition
  some values from: Sickle Cell Disease-S/D-Punjab
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU121GLN
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin D-Punjab
definition: Compound heterozygosity for the hemoglobin S (HBB Glu6Val) and hemoglobin D-Punjab (HBB Glu121Gln) variants.
curator note: Hemoglobin Genotype S/D-Punjab
definition source: Torres LS, Okumura JV, Silva DG, Bonini-Domingos CR. Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis. Rev Bras Hematol Hemoter. 2015;37(2): 120–126. pmid:25818823
existence in other ontologies: None
hasExactSynonym: Haemoglobin Genotype S/D-Punjab
hasExactSynonym: S/D-Punjab Genotype
hasExactSynonym: beta6Glu>Val/beta121Glu>Gln

Hemoglobin Genotype S/O-Arab
type: Class
subclass of: SCD Genotype
subclass of: Restriction
  on property: causes condition
  some values from: Sickle Cell Disease-S/O-Arab
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU121LYS
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin O-Arab
definition: Compound heterozygosity for the hemoglobin S (HBB Glu6Val) and hemoglobin O-Arab (HBB GluU121Lys) variants.
curator note: Request inclusion into relevant ontology
definition source: Lancet. 2010 Dec 11;376(9757):2018-31. doi: 10.1016/S0140-6736(10)61029-X. Epub 2010 Dec 3.
existence in other ontologies: None
hasExactSynonym: Haemoglobin Genotype S/OArab
hasExactSynonym: S/O-Arab Genotype
hasExactSynonym: beta6Glu>Val/beta121Glu>Lys

Hemoglobin Genotype SE
type: Class
subclass of: SCD Genotype
subclass of: Restriction
  on property: causes condition
  some values from: Sickle Cell Disease-SE
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU26LYS
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin E
definition: Compound heterozygosity for the hemoglobin S (HBB Glu6Val) and hemoglobin E (HBB Glu26Lys) variants.
curator note: Request inclusion into relevant ontology
definition source: Lancet. 2010 Dec 11;376(9757):2018-31. doi: 10.1016/S0140-6736(10)61029-X. Epub 2010 Dec 3.
existence in other ontologies: None
hasExactSynonym: Haemoglobin Genotype SE
hasExactSynonym: SE Genotype
hasExactSynonym: SE Hemoglobin Genotype
hasExactSynonym: beta6Glu>Val/beta26Glu>Lys

Hemoglobin Genotype SS
type: Class
subclass of: SCD Genotype
subclass of: Restriction
  on property: causes condition
  some values from: Sickle Cell Disease-SS
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin S
definition: The homozygous genotype that involves a substitution of glutamic acid for a valine at position 6 of beta-globin chains produced by both beta-globin gene (HBB) alleles.
curator note: Request inclusion into relevant ontology
existence in other ontologies: Few but definitions not specific enough
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Haemoglobin Genotype SS
hasExactSynonym: Hemoglobin S Genotype
hasExactSynonym: SS Genotype
hasExactSynonym: beta6Glu>Val/beta6Glu>Val

Hemoglobin Genotype SD
type: Class
subclass of: SCD Genotype
subclass of: Restriction
  on property: causes condition
  some values from: Sickle Cell Disease-SD
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, SER9TYR
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU121GLN
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLY16ARG
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, ASN19LYS
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU22GLN
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU22VAL
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, THR87LYS
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU121ALA
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin D
definition: Compound heterozygous inheritance of Hb S and Hb D mutations. Hb S occurs from substitution of valine for glutamic acid in the beta-6 position (beta6Glu>Val). Hb D generally results from substitution of glutamic acid for glutamine at beta-121 (beta121Glu>Gln); such as the Hb D-Punjab/Hb D-Los Angeles variants. There are several other Hb D variants, including Hb D-Iband where threonine is substituted by lysine at beta-87 (beta87Thr>Lys) and Hb D-Iran where glutamic acid is substituted by glutamine at beta-22 (beta22Glu>Gln).
curator note: Request inclusion into relevant ontology
definition source: FactSheet Provider HbSD En.pdf
existence in other ontologies: None
creator: SCDO
hasExactSynonym: Haemoglobin Genotype SD
hasExactSynonym: SD Genotype

Hemoglobin Genotype S/C-Harlem
type: Class
subclass of: SCD Genotype
subclass of: Restriction
  on property: causes condition
  some values from: Sickle Cell Disease-S/C-Harlem
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, ASP73ASN
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin C-Harlem
definition: Compound heterozygous inheritance of Hb S and Hb C-Harlem mutations. Hb S occurs from substitution of valine for glutamic acid in the beta-6 position (beta6Glu>Val). Hb C-Harlem involves two substitutions in each beta-chain: the first being identical to that found in Hb S, and the second being a substitution of aspartic acid at position 73 by asparagine (beta73Asp>Asn).
curator note: Request inclusion into relevant ontology
definition source: PMID: 1148394
existence in other ontologies: None
creator: SCDO
hasExactSynonym: Haemoglobin Genotype S/C-Harlem
hasExactSynonym: S/C-Harlem Genotype
hasExactSynonym: beta6Glu>Val/beta6Glu>Val, beta73Asp>Asn

Hemoglobin C-Harlem
type: Class
subclass of: Sickling Hemoglobin with Two Beta-Globin Gene Substitutions
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, ASP73ASN
definition: An abnormal hemoglobin in which two mutations occur in its beta-chains results in the sickling of red blood cells containing this hemoglobin. The sickling is the result of the mutation in which glutamic acid in position 6 is replaced by valine, which is not counteracted by the second mutation, in which the aspartic acid in position 73 is replaced by asparagine.
curator note: Request inclusion into the HPO, below "Abnormal Hemoglobin"/"Sickling Hemoglobin with Two Beta-Globin Gene Substitutions".
definition source: https://www.omim.org/entry/141900#0243
existence in other ontologies: Few but definitions not freely available
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: HbS-HBC-Harlem
hasExactSynonym: Hemoglobin C-Georgetown
hasExactSynonym: Hemoglobin S-Hemoglobin C-Harlem

Hemoglobin D-Punjab Trait
type: Class
subclass of: Hemoglobin D Trait
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU121GLN
definition: The inheritance of the gene for hemoglobin D-Punjab from one parent and a gene for normal adult hemoglobin (hemoglobin A) from the other parent.
curator note: Request inclusion into NCIT below "Hemoglobin Trait".
definition source: PMC4382585
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
dc:source: PMC4382585
hasExactSynonym: Hb AD-Punjab
comment: Hemoglobin D-Punjab Trait causes no clinical or hematological alterations

SCD Molecular Phenotype
type: Class
subclass of: Molecular Phenotype
subclass of: Restriction
  on property: modifies
  some values from: Phenotype of Sickle Cell Disease
definition: The underlying molecular makeup resulting in sickle cell disease.
curator note: Probably too specific to warrant inclusion into anther ontology. Consider inclusion of other sub-classes of this term in the Human Phenotype Ontology. -- - Elevated hemoglobin A1c -- - Imbalanced Hemoglobin Synthesis (and the 2 terms below this) -- Methemoglobina -- Others from MESH?: -- J, M, Methemoglobin?
existence in other ontologies: None
creator: SCDO (Clair Ingram)

Altered Level of Normal Hemoglobin in SCD
type: Class
subclass of: SCDO_1000276
subclass of: Restriction
  on property: modifies
  some values from: Phenotype of Sickle Cell Disease
definition: An altered level of normal hemoglobin (Hemoglobin A (Hb A), Hemoglobin A2 (Hb A2) or Hemoglobin F (Hb F, fetal hemoglobin) in the blood, which may be seen in those suffering with Sickle Cell Disease (SCD).
curator note: Probably too specific to SCD be included in other ontologies.
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Sickle Cell Disease-S/C-Harlem
type: Class
subclass of: Structural Hemoglobinopathy
subclass of: SCDO_1000163
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Genetic Testing
subclass of: Restriction
  on property: has mode of inheritance
  some values from: Autosomal Dominant
subclass of: Restriction
  on property: has causal genotype
  some values from: Hemoglobin Genotype S/C-Harlem
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, ASP73ASN
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin C-Harlem
definition: A rare type of sickle cell disease with the compound heterozygous genotype involving the mutations for Hemoglobin S and Hemoglobin C-Harlem. This condition is described to have a clinical course similar to sickle cell anemia.
curator note: Request inclusion into relevant ontology
definition source: Moo-Penn, W., Bechtel, K., Jue, D., Chan, M.S., Hopkins, G., Schneider, N.J., Wright, J. and Schmidt, R.M., 1975. The presence of hemoglobin S and C Harlem in an individual in the United States. Blood, 46(3), pp.363-367.
existence in other ontologies: None
creator: SCDO (Clair Ingram)
hasExactSynonym: SC(Harlem) Disease
hasExactSynonym: Sickle Cell-Hemoglobin C-Harlem Disease

HBB, 106-KB DEL
type: Class
subclass of: Beta-Globin Locus Deletion
subclass of: Other HBB Variants
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Hereditary Persistence of Fetal Hemoglobin
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Sickle Cell Disease-S/HPFH
subclass of: Restriction
  on property: modifies
  some values from: SCDO_1000707
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype S/HPFH
subclass of: Restriction
  on property: contributes to genotype
  some values from: SCDO_1000235
subclass of: Restriction
  on property: causes or contributes to molecular phenotype
  some values from: Increased Hemoglobin F
definition: A 106-kb deletion of the beta globin gene cluster.
curator note: Request inclusion into relevant ontology
definition source: http://www.omim.org/entry/141900#0538
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: HPFH1

Tiered Consent
type: Class
subclass of: Consent
definition: A consent model in which participants are given a set of options allowing them to select how they want to participate in the research.
curator note: Request inclusion into the Informed Consent Ontology.
definition source: https://www.genome.gov/27559022/informed-consent-glossary/
existence in other ontologies: None

Specific Consent
type: Class
subclass of: Informed Consent
definition: Requires that consent to the use of human samples be specific to the 'purpose' for which the sample is to be used and that where previously collected samples are to be used for a different 'research purpose' further consent should generally be obtained.
curator note: Request inclusion into the ICO below "Informed Consent".
definition source: https://www.alrc.gov.au/publications/15-human-genetic-research-and-consent/specific-consent
existence in other ontologies: None
creator: SCDO

Hemoglobin F Test
type: Class
subclass of: Hemoglobin Variant Test
definition: The determination of the amount of hemoglobin F present in a sample.
curator note: Suggest update to label in NCIT (from "Hemoglobin F Measurement") Add sub-classes of "Fetal hemoglobin determination" in SNOMED CT?
definition source: http://bioportal.bioontology.org/ontologies/NCIT
existence in other ontologies: Suggest update to label
database cross reference: NCIT:C92262
hasExactSynonym: Fetal Hemoglobin Test
hasExactSynonym: HGBF Test

Hemoglobin Genotype S/Beta Zero Thalassaemia
type: Class
subclass of: Hemoglobin Genotype S/Beta Thalassemia
subclass of: Restriction
  on property: causes condition
  some values from: Sickle Cell Disease-S Beta Zero Thalassemia
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: Beta-Zero Thalassemia Mutation
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: SCDO_1000241
definition: When one beta-globin gene carries the hemoglobin S mutation (beta6Glu>Val) whereas the other carries a null mutation, called beta-zero, because of the resulting inability to synthesize any beta-globin chain.
curator note: Request inclusion into relevant ontology
definition source: ref 8020
existence in other ontologies: None
hasExactSynonym: S/Beta-Zero-Thal Genotype
hasExactSynonym: S/Beta-Zero-Thalassaemia Genotype
hasExactSynonym: S/Beta-Zero-Thalassemia

deprecated Severe S/Beta-Plus-Thal
type: Class
subclass of: deprecated Sickle beta plus thalassemia
definition: 'Genotype where a person is a compound heterozygote for the hemoglobin S mutation and a severe beta plus thalassemia mutation. Source: CLAIR [Curator team: []]'
term replaced by: Severe Sickle Cell Disease-S Beta Minus Thalassemia
definition source: Rees, D.C., Williams, T.N. and Gladwin, M.T., 2010. Sickle-cell disease. The Lancet, 376(9757), pp.2018-2031.
hasExactSynonym: Severe S/Beta-Plus-Thal
hasExactSynonym: Severe S/Beta-Plus-Thal Genotype
hasExactSynonym: Severe S/Beta-Plus-Thalassaemia Genotype
deprecated: true

Hemoglobin Genotype S/HPFH
type: Class
subclass of: SCD Genotype
subclass of: Restriction
  on property: causes condition
  some values from: Sickle Cell Disease-S/HPFH
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBG1 and/or HBG2 Mutations
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, 106-KB DEL
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Increased Hemoglobin F
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin S
definition: Genotype whereby a person is heterozygous for a hemoglobin S mutation and heterozygous for a mutation that causes persistant fetal hemoglobin production into adulthood. HPFH causative mutations are largely due to deletions in the beta-globin locus, but also by point mutations in the gamma-globin gene promoters.
curator note: Request inclusion into relevant ontology
definition source: Stamatoyannopoulos, G. (2005). Control of globin gene expression during development and erythroid differentiation. Experimental Hematology, 33(3), 259. http://doi.org/10.1016/j.exphem.2004.11.007
existence in other ontologies: None
creator: SCDO (Clair Ingram)
hasExactSynonym: Haemoglobin Genotype S/HPFH
hasExactSynonym: S/HPFH Genotype

Hemoglobin Genotype S/Lepore Boston
type: Class
subclass of: Hemoglobin Genotype S/Beta Thalassemia
subclass of: Restriction
  on property: causes condition
  some values from: Sickle Cell Disease-S/Lepore Boston
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: SCDO_1000209
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin Lepore Boston
definition: A compound heterozygous genotype, involving the mutations for Hemoglobin S (beta6Glu>Val) and Hemoglobin Lepore Boston.
curator note: Request inclusion into relevant ontology
definition source: PMID: 7055103
definition source: Stevens MC, Lehmann H, Mason KP, Serjeant BE, Serjeant GR. 1982. Sickle cell Hb Lepore Boston syndrome. Uncommon differential diagnosis to homozygous sickle cell disease. Am J Dis Child. 136(1):19-22.
existence in other ontologies: None
hasExactSynonym: Haemoglobin Genotype S/Lepore
hasExactSynonym: S/Lepore
hasExactSynonym: S/Lepore Boston Genotype
hasExactSynonym: S/Lepore Genotype

Hemoglobin Genotype A/Jamaica Plain
type: Class
subclass of: SCD Genotype
subclass of: Restriction
  on property: causes condition
  some values from: SCDO_1000164
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, LEU68PHE
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin Jamaica Plain
definition: A genotype that involves a double mutation in one beta-globin gene that results in hemoglobin with low oxygen affinity, which results in the polymerisation of the hemoglobin variant (hemoglobin Jamaica Plain) and thus sickling of erythorcytes.
curator note: Request inclusion into relevant ontology
definition source: http://ac.els-cdn.com/S014067361061029X/1-s2.0-S014067361061029X-main.pdf
existence in other ontologies: None
hasExactSynonym: A/Jamaica Plain Genotype
hasExactSynonym: A/Jamaica Plain Haemoglobin Genotype
hasExactSynonym: A/Jamaica Plain Hemoglobin Genotype
hasExactSynonym: Haemoglobin Genotype A/Jamaica Plain

Hemoglobin Jamaica Plain
type: Class
subclass of: Sickling Hemoglobin with Two Beta-Globin Gene Substitutions
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, LEU68PHE
definition: A sickling hemoglobin with reduced oxygen affinity that causes severe hemolytic anemia and sickling of erythrocytes.
curator note: Request inclusion into the HPO, below "Abnormal Hemoglobin"/"Sickling Hemoglobin with Two Beta-Globin Gene Substitutions".
definition source: http://www.nejm.org/doi/full/10.1056/NEJMoa040771
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Hb JP
hasExactSynonym: Hb Jamaica Plain
hasExactSynonym: Hemoglobin JP

Hemoglobin S-Antilles
type: Class
subclass of: Sickling Hemoglobin with Two Beta-Globin Gene Substitutions
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, VAL23ILE
definition: A form of hemoglobin caused by two mutations in its beta-chains, the classic beta S mutation (beta 6 Glu>Val) and beta 23 Val>Ile. Hemoglobin S-Antilles has the same electrophoretic mobility as Hemoglobin S but a distinct isoelectric focus and produces sickling in the carriers of the Hb A/S Antilles trait.
curator note: Request inclusion into the HPO, below "Abnormal Hemoglobin"/"Sickling Hemoglobin with Two Beta-Globin Gene Substitutions".
definition source: https://www.omim.org/entry/141900#0244
existence in other ontologies: Few but definitions not freely available
creator: SCDO (Jade Hotchkiss)

Hemoglobin S-Oman
type: Class
subclass of: Sickling Hemoglobin with Two Beta-Globin Gene Substitutions
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU121LYS
definition: A form of hemoglobin caused by two mutations in a beta-globin chain, the classic beta S mutation (beta6 Glu> Val) and a beta121 Glu > Lys mutation identical to that of Hb-O Arab. The hemoglobin variant has reduced solubility and there is an apparent increase in red cell sickling tendency. It is reported to cause a rare dominant form of sickle cell disease, Sickle Cell Disease A/S-Oman.
curator note: Request inclusion into the HPO, below "Abnormal Hemoglobin"/"Sickling Hemoglobin with Two Beta-Globin Gene Substitutions".
definition source: https://www.omim.org/entry/141900#0245
definition source: Nagel, R.L., Daar, S., Romero, J.R., Suzuka, S.M., Gravell, D., Bouhassira, E., Schwartz, R.S., Fabry, M.E. and Krishnamoorthy, R., 1998. HbS-Oman heterozygote: a new dominant sickle syndrome. Blood, 92(11), pp.4375-4382.
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Hb S-Oman
hasExactSynonym: Hemoglobin S (Oman)

Hemoglobin Genotype A/S-Oman
type: Class
subclass of: SCD Genotype
subclass of: Restriction
  on property: causes condition
  some values from: SCDO_1000165
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU121LYS
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin S-Oman
definition: Dominant heterozygosity for the double HBB Glu6Val and Glu121Lys mutation.
curator note: Request inclusion into relevant ontology
definition source: S014067361061029X
definition source: PMID: 9834244
existence in other ontologies: None
hasExactSynonym: A/S-Oman Genotype
hasExactSynonym: A/S-Oman Haemoglobin Genotype
hasExactSynonym: A/S-Oman Hemoglobin Genotype
hasExactSynonym: Haemoglobin Genotype A/S-Oman

Mild Sickle Cell Disease-S Beta Minus Thalassemia
type: Class
subclass of: Sickle Cell Disease-S Beta Minus Thalassemia
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: Beta-Minus Thalassemia Mutation
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
definition: A form of sickle cell thalassemia, with a mild clinical phenotype, characterized by the presence of hemoglobin S and a small amount of hemoglobin A in the red blood cells.
curator note: Request inclusion into relevant ontology
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
definition source: Rees, D.C., Williams, T.N. and Gladwin, M.T., 2010. Sickle-cell disease. The Lancet, 376(9757), pp.2018-2031.
existence in other ontologies: None
creator: SCDO (Clair Ingram)
hasExactSynonym: Mild Sickle Cell Disease-S Beta Minus Thalassaemia
hasExactSynonym: Mild Sickle Cell-Beta Minus Thalassaemia
hasExactSynonym: Mild Sickle Cell-Beta Minus Thalassemia

Moderate Sickle Cell Disease-S Beta Minus Thalassemia
type: Class
subclass of: Sickle Cell Disease-S Beta Minus Thalassemia
subclass of: Restriction
  on property: treated with
  some values from: Blood Transfusion
subclass of: Restriction
  on property: treated with
  some values from: Hematopoietic Stem Cell Transplantation
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: Beta-Minus Thalassemia Mutation
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
definition: A form of sickle cell thalassemia, with a moderate clinical phenotype, characterized by the presence of hemoglobin S and a small amount of hemoglobin A in the red blood cells.
curator note: Request inclusion into relevant ontology
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
definition source: Rees, D.C., Williams, T.N. and Gladwin, M.T., 2010. Sickle-cell disease. The Lancet, 376(9757), pp.2018-2031.
existence in other ontologies: None
creator: SCDO (Clair Ingram)
hasExactSynonym: Moderate Sickle Cell Disease-S Beta Minus Thalassaemia
hasExactSynonym: Moderate Sickle Cell-Beta Minus Thalassaemia
hasExactSynonym: Moderate Sickle Cell-Beta Minus Thalassemia

Severe Sickle Cell Disease-S Beta Minus Thalassemia
type: Class
subclass of: Sickle Cell Disease-S Beta Minus Thalassemia
subclass of: Restriction
  on property: treated with
  some values from: Blood Transfusion
subclass of: Restriction
  on property: treated with
  some values from: Hematopoietic Stem Cell Transplantation
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: Beta-Minus Thalassemia Mutation
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
definition: A form of sickle cell thalassemia, with a severe clinical phenotype, characterized by the presence of hemoglobin S and a small amount of hemoglobin A in the red blood cells.
curator note: Request inclusion into relevant ontology
definition source: http://bioportal.bioontology.org/ontologies/NCIT/
definition source: Rees, D.C., Williams, T.N. and Gladwin, M.T., 2010. Sickle-cell disease. The Lancet, 376(9757), pp.2018-2031.
existence in other ontologies: None
creator: SCDO (Clair Ingram)
hasExactSynonym: Severe Sickle Cell Disease-S Beta Minus Thalassaemia
hasExactSynonym: Severe Sickle Cell-Beta Minus Thalassaemia
hasExactSynonym: Severe Sickle Cell-Beta Minus Thalassemia

deprecated Moderate S/Beta-Plus-Thal
type: Class
subclass of: deprecated Sickle beta plus thalassemia
definition: 'Genotype where a person is a compound heterozygote for the hemoglobin S mutation and a moderate beta plus thalassemia mutation. Source: CLAIR [Curator team: []]'
term replaced by: Moderate Sickle Cell Disease-S Beta Minus Thalassemia
definition source: Rees, D.C., Williams, T.N. and Gladwin, M.T., 2010. Sickle-cell disease. The Lancet, 376(9757), pp.2018-2031.
hasExactSynonym: Moderate S/Beta-Plus-Thalassaemia
deprecated: true

deprecated Mild S/Beta-Plus-Thal
type: Class
subclass of: deprecated Sickle beta plus thalassemia
definition: 'Not described [Curator team: []]'
term replaced by: Mild Sickle Cell Disease-S Beta Minus Thalassemia
hasExactSynonym: Mild S/Beta-Plus-Thalassaemia
deprecated: true

Hemoglobin Genotype C/S Antilles
type: Class
subclass of: SCD Genotype
subclass of: Restriction
  on property: causes condition
  some values from: SCDO_1000166
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU6LYS
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, VAL23ILE
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin C
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin S-Antilles
definition: Compound heterozygosity for the hemoglobin C (HBB Glu6Lys) mutation and the double HBB Glu6Val, Val23Ile mutation of hemoglobin S-Antilles.
curator note: Request inclusion into relevant ontology
definition source: DOI: 10.1016/S0140-6736(10)61029-X
definition source: PMID: 21131035
existence in other ontologies: None
hasExactSynonym: C/S Antilles Genotype
hasExactSynonym: C/S Antilles Haemoglobin Genotype
hasExactSynonym: C/S Antilles Hemoglobin Genotype
hasExactSynonym: Haemoglobin Genotype C/S Antilles
hasExactSynonym: beta6Glu>Lys/beta6Glu>Val, beta23Val>Ile

Sickling Hemoglobin with Two Beta-Globin Gene Substitutions
type: Class
subclass of: Abnormal Hemoglobin in SCD
subclass of: Abnormal Hemoglobin
definition: A hemoglobin that sickles due to the presence of two beta-globin gene mutations within the same HBB gene.
curator note: Request inclusion into the HPO, below "Abnormal Hemoglobin".
existence in other ontologies: None
dc:source: http://books.google.co.za/books
dc:source: NEJMoa040771
dc:source: https://www.omim.org/entry/141900#0245
hasExactSynonym: Doubly Substituted Sickling Hemoglobin

Hemoglobin S-South End
type: Class
subclass of: Sickling Hemoglobin with Two Beta-Globin Gene Substitutions
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, LYS132ASN
definition: An abnormal hemoglobin in which two mutations occurring in its beta-chains results in the sickling of red blood cells containing this hemoglobin. The sickling is the result of the mutation in which glutamic acid in position 6 is replaced by valine, which is not counteracted by the second mutation, in which the lysine in position 132 is replaced by asparagine.
curator note: Request inclusion into the HPO, below "Abnormal Hemoglobin"/"Sickling Hemoglobin with Two Beta-Globin Gene Substitutions".
definition source: Luo, H.Y., Adewoye, A.H., Eung, S.H., Skelton, T.P., Quillen, K., McMahon, L., Steinberg, M.H. and Chui, D.H., 2004. A novel sickle hemoglobin: Hemoglobin S-South End. Journal of pediatric hematology/oncology, 26(11), pp.773-776.
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)

Hemoglobin Genotype S/Quebec-Chori
type: Class
subclass of: SCD Genotype
subclass of: Restriction
  on property: causes condition
  some values from: Sickle Cell Disease-S/Quebec Chori
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, THR87ILE
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin Quebec Chori
definition: A compound heterozygous genotype, involving the mutations for Hemoglobin S and Hemoglobin Quebec Chori, which shows an electrophoretic pattern similar to that of the Hb A/S Genotype, but shows sickling.
curator note: Request inclusion into relevant ontology
definition source: Pediatr Blood Cancer. 2007 Aug;49(2):207-10.
existence in other ontologies: None
creator: SCDO
hasExactSynonym: Haemoglobin Genotype S/Quebec-Chori
hasExactSynonym: S/Quebec-Chori Genotype
hasExactSynonym: beta6Glu>Val/beta87Thr>Ile

Hemoglobin Quebec Chori
type: Class
subclass of: Abnormal Hemoglobin in SCD
subclass of: Abnormal Hemoglobin
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, THR87ILE
definition: An abnormal hemoglobin in which a threonine is replaced by an isoleucine residue at the eighty-seventh position of beta chains. It migrates like HbA but promotes sickling.
curator note: Suggest update to description in MESH (the term in MESH doesn't currently have a description). Also request inclusion in the HPO, below "Abnormal Hemoglobin", for the sake of completion.
definition source: sickle-haemoglobin-and-varients
definition source: Witkowska, H.E., Lubin, B.H., Beuzard, Y., Baruchel, S., Esseltine, D.W., Vichinsky, E.P. et al. Sickle cell disease in a patient with sickle cell trait and compound heterozygosity for hemoglobin S and hemoglobin Quebec-Chori. N Engl J Med. 1991; 325: 1150–1154
existence in other ontologies: Suggest update to description
dc:source: C070823
dc:source: http://ac.els-cdn.com/S014067361061029X/1-s2.0-S014067361061029X-main.pdf
database cross reference: MESH:C070823
hasExactSynonym: Hb Quebec-Chori

Sickle Cell Disease-S/Quebec Chori
type: Class
subclass of: SCDO_1000163
subclass of: Restriction
  on property: diagnosed using tool
  some values from: High-Performance Liquid Chromatography
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Genetic Testing
subclass of: Restriction
  on property: has mode of inheritance
  some values from: SCDO_1000243
subclass of: Restriction
  on property: has causal genotype
  some values from: Hemoglobin Genotype S/Quebec-Chori
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, THR87ILE
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin Quebec Chori
definition: A severe compound heterozygous sickling disorder characterized by the presence of both hemoglobin S and hemoglobin Quebec Chori.
curator note: Request inclusion into relevant ontology
definition source: https://www.ncbi.nlm.nih.gov/pubmed/17551985
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Sickle Cell-Hemoglobin Quebec Chori Disease

HBB, LYS132ASN
type: Class
subclass of: Other HBB Variants
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Sickle Cell Disease-S/S-South End
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype S/S-South End
subclass of: Restriction
  on property: causes or contributes to molecular phenotype
  some values from: Hemoglobin S-South End
definition: A mutation where the lysine residue in position 132 in the primary sequence of a beta-chain produced by the HBB gene is replaced by asparagine. This mutation on its own produces Hb Yamagata which has reduced oxygen affinity, but no distinctive clinical abnormalities. However, when present in the same gene as the Hb S mutation (HBB, GLU6VAL), the sickling HbS-South End is produced.
curator note: Request inclusion into relevant ontology
definition source: http://omim.org/entry/141900#0302
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Contributing Beta S-South End Mutation
hasExactSynonym: Contributing Hb S-South End Mutation
hasExactSynonym: Hb Yamagata Mutation
hasExactSynonym: LYS132ASN

Hemoglobin Genotype S/S-South End
type: Class
subclass of: SCD Genotype
subclass of: Restriction
  on property: causes condition
  some values from: Sickle Cell Disease-S/S-South End
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, LYS132ASN
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin S-South End
definition: A compound heterozygous genotype, involving the mutations for hemoglobin S and hemoglobin S-South End.
curator note: Request inclusion into relevant ontology
definition source: https://www.ncbi.nlm.nih.gov/pubmed/15543018
existence in other ontologies: None
hasExactSynonym: Haemoglobin Genotype S/S-South End
hasExactSynonym: S/S-South End Genotype
hasExactSynonym: beta Glu6Val, GAG>GTG/beta Glu6Val, GAG>GTG; beta Lys132Asn, AAA>AAC
hasExactSynonym: beta6Glu>Val/beta132Lys>Asn

Hemoglobin Lepore Boston
type: Class
subclass of: Abnormal Hemoglobin in SCD
subclass of: Abnormal Hemoglobin
definition: The most common Hemoglobin Lepore type and the only type of the three known variants described in association with HbS. This abnormal hemoglobin consists of two normal alpha globin chains (HBA) and two deltabeta globin fusion chains which occur due to a crossover between the delta (HBD) and beta globin (HBB) gene loci during meiosis.
curator note: Suggest inclusion in the HPO, below "Abnormal Hemoglobin". Hb Lepore is produced at a reduced rate and this is why the disease is related to the Β-thalassemic syndromes. Quantity in heterozygotes 7-13%; found in combination with Hb S, Hb C, beta+-thal, and in the homozygous state. The most common Hb Lepore type; found mainly in Italian families; it has also been observed in families from Rumania, Yugoslavia, Turkey, Cyprus, Jamaica, Cuba, Greece, England, Australia, Mexico, etc
definition source: http://en.wikipedia.org/wiki/Hemoglobin_Lepore_syndrome#Homozygous_Hb_Lepore
definition source: http://globin.cse.psu.edu/html/huisman/variants/hybrid/Lepore-Boston-Washington.html
existence in other ontologies: Few but definitions not freely available
hasExactSynonym: Hb Lepore Boston-Washington
hasExactSynonym: Hb Lepore-B-W
hasExactSynonym: Hb Lepore-Boston-Washington
hasExactSynonym: Hb Lepore-WB
hasExactSynonym: Hb Lepore-Washington-Boston
hasExactSynonym: Hemoglobin Lepore Boston-Washington
hasExactSynonym: Hemoglobin Lepore-Boston-Washington

Sickle Cell Disease-S/S-South End
type: Class
subclass of: Structural Hemoglobinopathy
subclass of: SCDO_1000163
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Genetic Testing
subclass of: Restriction
  on property: diagnosed using tool
  some values from: Hemoglobin Profile Assay
subclass of: Restriction
  on property: has mode of inheritance
  some values from: SCDO_1000243
subclass of: Restriction
  on property: has causal genotype
  some values from: Hemoglobin Genotype S/S-South End
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, LYS132ASN
subclass of: Restriction
  on property: has manifestation
  some values from: Severe Anemia
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: has causal molecular phenotype
  some values from: Hemoglobin S-South End
definition: A rare, reported severe, type of sickle cell disease with the compound heterozygous genotype involving the mutations for Hemoglobin S and Hemoglobin S-South End.
curator note: Request inclusion into relevant ontology
definition source: Luo, H.Y., Adewoye, A.H., Eung, S.H., Skelton, T.P., Quillen, K., McMahon, L., Steinberg, M.H. and Chui, D.H., 2004. A novel sickle hemoglobin: Hemoglobin S-South End. Journal of pediatric hematology/oncology, 26(11), pp.773-776.
existence in other ontologies: None
creator: SCDO (Clair Ingram)
hasExactSynonym: Sickle Cell-Hemoglobin S-South End Disease

deprecated Sickle beta plus thalassemia
type: Class
subclass of: deprecated terms
definition: 'Sb+ thalassemia is an inherited condition. Hemoglobin S comes from one parent and Beta plus thalassemia comes from the other parent. Instead of appearing round (like donuts), red blood cells are somewhat small, pale and misshapen. [Curator team: []]'
term replaced by: Sickle Cell Disease-S Beta Minus Thalassemia
deprecated: true

deprecated-Acute Severe Headache
type: Class
subclass of: from phenotype
definition: A primary headache disorder that is characterized by severe, strictly unilateral PAIN which is orbital, supraorbital, temporal or in any combination of these sites, lasting 15-180 min. occurring 1 to 8 times a day. The attacks are associated with one or more of the following, all of which are ipsilateral: conjunctival injection, lacrimation, nasal congestion, rhinorrhea, facial SWEATING, eyelid EDEMA, and miosis.
term replaced by: Cluster Headache
curator note: Ask a clinician if this is different to a cluster headache?
definition source: https://meshb.nlm.nih.gov/record/ui
database cross reference: MESH:D003027
deprecated: true

Adverse Event (AE)
type: Class
subclass of: Disease Modifier
definition: A medically undesirable event occurring in a research subject, such as an abnormal sign, symptom, worsening of a disease, injury, etc. A serious adverse event (SAE) results in death, hospitalization (or increased hospital stay), persistent disability, birth defect, or any other outcome that seriously jeopardizes the subject's health.
definition source: OAE_0000001
existence in other ontologies: Sufficient
previous identifier: SCDO:1000093
database cross reference: OAE:0000001
hasExactSynonym: Adverse Reaction

Research Benefit
type: Class
subclass of: Research Characteristics
definition: A desirable research outcome or state of affairs, such as medical treatment, clinically useful information, or self-esteem. In the oversight of human subjects research, money is usually not treated as a benefit.
curator note: Request inclusion into relevant ontology
definition source: Shamoo AE and Resnik DB, Responsible Conduct of Research, 3rd ed. (New York: Oxford University Press, 2015).
existence in other ontologies: None
creator: SCDO

Conflict of Interest
type: Class
subclass of: Research Characteristics
subclass of: SCDO_1000430
definition: A situation in which an individual or their close associates might benefit personally from official or professional actions. It includes a conflict between a person's private interests and official responsibilities in a position of trust.The concept refers both to actual conflict of interest and the appearance or perception of conflict.
definition source: http://purl.bioontology.org/ontology/MESH/D016265
existence in other ontologies: Few but definitions not specific enough
database cross reference: MESH:D016265
hasExactSynonym: Interest Conflict

Human Subject
type: Class
subclass of: Research Characteristics
definition: An homo sapiens that bears an experimental subject role which is realized through his/her participation in a scientific technique as the subject of interest (ie as the subject about which data is generated in an assay or study, or the entity that is transformed or modified in a material processing technique).
definition source: ERO_0001964
existence in other ontologies: Sufficient
previous identifier: SCDO:1000097
database cross reference: ERO:0001964

Case Report Form (CRF)
type: Class
subclass of: Publication Formats
definition: A paper or electronic questionnaire specifically used in research by the sponsor of the research to collect data from each research participant. All data on each participant in the study are held and/or documented in the CRF, including adverse events.
curator note: Request inclusion into relevant ontology, perhaps as parent of "electronic case report form" in the Ontology for Biomedical Investigations (OBI)
definition source: Debbie Kennedy, CRF Designer, Canary Publications, ISBN 0-9531174-7-2
existence in other ontologies: None
creator: SCDO

Modifier Gene
type: Class
subclass of: Genetic Disease Modifier
definition: Genes with alleles that affect the phenotype associated with a nonallelic gene.
definition source: D060045
existence in other ontologies: Sufficient
previous identifier: SCDO:1000099
database cross reference: MESH:D060045
hasExactSynonym: Gene, Modifier

ICD-10-CM Code Type
type: Class
subclass of: Clinical Coding
definition: The type of ICD-10-CM code, in terms of a code's usability for reimbursement purposes.
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Genetic Locus
type: Class
subclass of: Genetic Structure
definition: A specific region that is mapped within a genome. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or hereditary disease.
definition source: D056426
existence in other ontologies: Sufficient
previous identifier: SCDO:1000103
database cross reference: MESH:D056426
hasExactSynonym: Genetic Loci
hasExactSynonym: Loci, Genetic
hasExactSynonym: Locus, Genetic

Hemoglobin Subunits
type: Class
subclass of: Gene Product
definition: The protein subunits that comprise multimeric hemoglobins.
definition source: D055554
existence in other ontologies: Sufficient
previous identifier: SCDO:1000104
database cross reference: MESH:D055554

Alpha-Globin Family Members
type: Class
subclass of: Globin Phenotype
subclass of: Hemoglobin Subunits
definition: Members of the alpha-globin family. In humans, they are encoded in a gene cluster on chromosome 16. They include hemoglobin subunit zeta and hemoglobin subunit alpha. There are also pseudogenes of zeta (theta-zeta) and alpha (theta-alpha) in the cluster. Adult hemoglobin is comprised of 2 alpha-globin chains and 2 beta-globin chains.
definition source: D055542
existence in other ontologies: Sufficient
previous identifier: SCDO:1000105
database cross reference: MESH:D055542
hasExactSynonym: Alpha-Globins

Sickle Cell Disease
type: Class
subclass of: Hemoglobinopathy
subclass of: Restriction
  on property: has clinical code
  some values from: D57 Sickle-Cell Disorders
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: Other HBB Variants
subclass of: Restriction
  on property: has causal or contributing genetic variation
  some values from: HBB, GLU6VAL
definition: Sickle cell disease (SCD) is a pleiotropic inherited disorder of the blood, characterised by the appearance of sickle-shaped red blood cells and anemia. It results from homozygosity for the sickle beta-globin gene mutation at position 6 (glu > val), or compound heterozygosity for the sickle gene and either another mutation for a different hemoglobin variant or one of numerous beta-thalassemia mutations.
curator note: Suggest update to description in NCIT. Sickle cell diseases include inheritance of the gene for sickle hemoglobin from one parent and one of the following: A gene for sickle hemoglobin from the other parent (Hb SS), A gene for another abnormal hemoglobin from the other parent (Hb SC, HbSD Punjab, HbSO Arab, HbS Leopore, or Hb SE), A gene that limits hemoglobin production from the other parent (sickle beta +/0 thalassemia). In S beta (+) thalassemia there is some production of beta globin, and in S beta (0) thalassemia there is no production of beta globin.
definition source: http://bioportal.bioontology.org/ontologies/NCIT
definition source: https://www.ncbi.nlm.nih.gov/pubmed/19902523
existence in other ontologies: Few but definitions not specific enough
dc:source: Sickle cell disease
hasExactSynonym: Banana Cell Disease
hasExactSynonym: Drepanocytosis
hasExactSynonym: SCD
hasExactSynonym: Sickle Cell Disorder
hasExactSynonym: Sickle Cell Hemoglobinopathy
hasExactSynonym: Sickle Hemoglobinopathy
hasExactSynonym: Sickle-Cell Disorder

Hemoglobin Genotype S/Beta Thalassemia
type: Class
subclass of: SCD Genotype
subclass of: Restriction
  on property: causes condition
  some values from: Sickle Beta Thalassemia
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: Beta Thalassemia Genotype
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: SCDO_1000240
definition: The combination of the hemoglobin S mutation (beta6Glu>Val) and a beta-thalassemia mutation.
curator note: Request inclusion into relevant ontology
definition source: PMC4459467
existence in other ontologies: None
hasExactSynonym: Hemoglobin Genotype S/Beta Thalassaemia
hasExactSynonym: S/Beta -Thal Genotype
hasExactSynonym: S/Beta -Thalassaemia Genotype

HBB, SER9TYR
type: Class
subclass of: Hemoglobin D Disease Causal Mutation
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype SD
subclass of: Restriction
  on property: contributes to genotype
  some values from: SCDO_1000226
subclass of: Restriction
  on property: contributes to genotype
  some values from: SCDO_1000230
subclass of: Restriction
  on property: causes or contributes to molecular phenotype
  some values from: Hemoglobin D
definition: A mutation where the serine in position 9 in the primary sequence of a beta-chain produced by the HBB gene is replaced by tyrosine. This mutation is one of 2 amino acid substitutions in the same beta chain that produces the asymptomatic Hemoglobin D-Agri, the other mutation being HBB, GLU121GLN, which on its own produces Hemoglobin D-Punjab.
curator note: Request inclusion into relevant ontology
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)
dc:source: http://www.omim.org/entry/141900#0502
hasExactSynonym: Beta D-Agri Mutation

HBB, GLU121GLN
type: Class
subclass of: Hemoglobin D Disease Causal Mutation
subclass of: Other HBB Variants
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Sickle Cell Disease-S/D-Punjab
subclass of: Restriction
  on property: causes or contributes to condition
  some values from: Hemoglobin D-Punjab Trait
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype S/D-Punjab
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype SD
subclass of: Restriction
  on property: contributes to genotype
  some values from: SCDO_1000226
subclass of: Restriction
  on property: contributes to genotype
  some values from: SCDO_1000230
subclass of: Restriction
  on property: causes or contributes to molecular phenotype
  some values from: Hemoglobin D-Punjab
definition: A mutation where the glutamic acid in position 121 in the primary sequence of a beta-chain produced by the HBB gene is replaced by glutamine.
curator note: Request inclusion into relevant ontology
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)
dc:source: http://www.omim.org/entry/141900#0065
dc:source: PMC4382585
hasExactSynonym: Beta 121Glu>Gln
hasExactSynonym: Beta D-Punjab Mutation
comment: Derived from a point mutation in the beta-globin gene (HBB: c.364G>C; rs33946267).

HBB, GLY16ARG
type: Class
subclass of: Hemoglobin D Disease Causal Mutation
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype SD
subclass of: Restriction
  on property: contributes to genotype
  some values from: SCDO_1000226
subclass of: Restriction
  on property: contributes to genotype
  some values from: SCDO_1000230
subclass of: Restriction
  on property: causes or contributes to molecular phenotype
  some values from: Hemoglobin D
definition: A mutation where the glycine in position 16 in the primary sequence of a beta-chain produced by the HBB gene is replaced by arginine.
curator note: Request inclusion into relevant ontology
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)
dc:source: http://www.omim.org/entry/141900#0060
hasExactSynonym: Beta D-Bushman Mutation

HBB, ASN19LYS
type: Class
subclass of: Hemoglobin D Disease Causal Mutation
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype SD
subclass of: Restriction
  on property: contributes to genotype
  some values from: SCDO_1000226
subclass of: Restriction
  on property: contributes to genotype
  some values from: SCDO_1000230
subclass of: Restriction
  on property: causes or contributes to molecular phenotype
  some values from: Hemoglobin D
definition: A mutation where the asparargine acid in position 19 in the primary sequence of a beta-chain produced by the HBB gene is replaced by lysine.
curator note: Request inclusion into relevant ontology
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)
dc:source: http://www.omim.org/entry/141900#0064
hasExactSynonym: Beta D-Ouled Rabah Mutation

HBB, GLU22GLN
type: Class
subclass of: Hemoglobin D Disease Causal Mutation
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype SD
subclass of: Restriction
  on property: contributes to genotype
  some values from: SCDO_1000226
subclass of: Restriction
  on property: contributes to genotype
  some values from: SCDO_1000230
subclass of: Restriction
  on property: causes or contributes to molecular phenotype
  some values from: Hemoglobin D
definition: A mutation where the glutamic acid in position 22 in the primary sequence of a beta-chain produced by the HBB gene is replaced by glutamine.
curator note: Request inclusion into relevant ontology
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)
dc:source: http://www.omim.org/entry/141900#0063
hasExactSynonym: Beta D-Iran Mutation

HBB, GLU22VAL
type: Class
subclass of: Hemoglobin D Disease Causal Mutation
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype SD
subclass of: Restriction
  on property: contributes to genotype
  some values from: SCDO_1000226
subclass of: Restriction
  on property: contributes to genotype
  some values from: SCDO_1000230
subclass of: Restriction
  on property: causes or contributes to molecular phenotype
  some values from: Hemoglobin D
definition: A mutation where the glutamic acid in position 22 in the primary sequence of a beta-chain produced by the HBB gene is replaced by valine.
curator note: Request inclusion into relevant ontology
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)
dc:source: http://www.omim.org/entry/141900#0061
hasExactSynonym: Beta D-Granada Mutation

HBB, THR87LYS
type: Class
subclass of: Hemoglobin D Disease Causal Mutation
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype SD
subclass of: Restriction
  on property: contributes to genotype
  some values from: SCDO_1000226
subclass of: Restriction
  on property: contributes to genotype
  some values from: SCDO_1000230
subclass of: Restriction
  on property: causes or contributes to molecular phenotype
  some values from: Hemoglobin D
definition: A mutation where the threonine in position 87 in the primary sequence of a beta-chain produced by the HBB gene is replaced by lysine.
curator note: Request inclusion into relevant ontology
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)
dc:source: http://www.omim.org/entry/141900#0062
hasExactSynonym: Beta D-Ibadan Mutation

HBB, GLU121ALA
type: Class
subclass of: Hemoglobin D Disease Causal Mutation
subclass of: Restriction
  on property: contributes to genotype
  some values from: Hemoglobin Genotype SD
subclass of: Restriction
  on property: contributes to genotype
  some values from: SCDO_1000226
subclass of: Restriction
  on property: contributes to genotype
  some values from: SCDO_1000230
subclass of: Restriction
  on property: causes or contributes to molecular phenotype
  some values from: Hemoglobin D
definition: A mutation where the glutamic acid in position 121 in the primary sequence of a beta-chain produced by the HBB gene is replaced by alanine.
curator note: Request inclusion into relevant ontology
existence in other ontologies: Negligable
creator: SCDO (Jade Hotchkiss)
dc:source: http://www.omim.org/entry/141900#0445
hasExactSynonym: Beta D-Neath Mutation

Adja
type: Class
subclass of: Ethnic Group
definition: The Adja ethnic group are mostly farmers and live in the southern part of Benin Republic. They make up 15% of the general country population. This group of people migrated into Benin between the 12th and 13th centuries from River Mono. The primary language is Aja-Gbe with a majority of the people being trilingual.
curator note: Request inclusion into relevant ontology, possibly below "Ethnic Group" in NCIT?
definition source: major-ethnic-groups-of-benin.html
existence in other ontologies: Negigable
dc:source: Demographic and Health Surveys Program (2011-2012)
hasExactSynonym: Adja Ethnic Group

Bariba
type: Class
subclass of: Ethnic Group
definition: Bariba is the ethnic group dominating the northern side of Benin, who constitute 9% of the population. They are the first inhabitants of Benin and are concentrated in the capital city, Nikki. One of their leading practices is horse riding, which is a practice that has been enjoyed from generation to generation. With agriculture being their dominant occupation, Bariba people have a diverse range of produce such as corn, rice and palm oil.
curator note: Request inclusion into relevant ontology, possibly below "Ethnic Group" in NCIT?
definition source: major-ethnic-groups-of-benin.html
existence in other ontologies: Negligable
dc:source: Demographic and Health Surveys Program (2011-2012)
hasExactSynonym: Bariba Ethnic Group

Dendi
type: Class
subclass of: Ethnic Group
existence in other ontologies: Negligable
hasExactSynonym: Dendi Ethnic Group

Fon
type: Class
subclass of: Ethnic Group
definition: The largest ethnic group in Benin is Fon/Dahomey which constitutes 39% of the total population. Established in 1600 by the Fon, a group that came about through the intermarriage between the Adja and local Gedevi.
curator note: Request inclusion into relevant ontology, possibly below "Ethnic Group" in NCIT?
definition source: major-ethnic-groups-of-benin.html
existence in other ontologies: None
dc:source: Demographic and Health Surveys Program (2011-2012)
hasExactSynonym: Fon Ethnic Group

Yoa
type: Class
subclass of: Ethnic Group
existence in other ontologies: None
hasExactSynonym: Yoa Ethnic Group

Betamaribe
type: Class
subclass of: Ethnic Group
existence in other ontologies: None
hasExactSynonym: Betamaribe Ethnic Group

Embu
type: Class
subclass of: Ethnic Group
definition: The Embu are a Bantu-speaking people who are closely related to the Gikuyu of Ndia and Gicugu to the west, the Mbeere and the Kamba to the southeast, and the Chuka and the Meru to the north in Kenya.
curator note: Request inclusion into relevant ontology, possibly below "Ethnic Group" in NCIT?
definition source: embu-0
existence in other ontologies: Negligable
dc:source: Demographic and Health Surveys Program (2015)
hasExactSynonym: Embu Ethnic Group

Kalenjin
type: Class
subclass of: Ethnic Group
definition: The Kalenjin ethnic group are one of the five largest ethnic groups in Kenya. They are a Nilotic ethnic group and they are mainly farmers.
curator note: Request inclusion into relevant ontology, possibly below "Ethnic Group" in NCIT?
definition source: kethnic.htm
existence in other ontologies: None
dc:source: Demographic and Health Surveys Program (2015)
hasExactSynonym: Kalenjin Ethnic Group

Kamba
type: Class
subclass of: Ethnic Group
definition: The Kamba ethnic group, also known as Akamba is one of the five largest ethnic groups in Kenya. They are Bantu-speaking people and primarily agriculturists.
curator note: Request inclusion into relevant ontology, possibly below "Ethnic Group" in NCIT?
definition source: kethnic.htm
existence in other ontologies: None
dc:source: Demographic and Health Surveys Program (2015)
hasExactSynonym: Kamba Ethnic Group

Kikuyu
type: Class
subclass of: Ethnic Group
definition: The Kikuyu are the largest single ethnic tribe in Kenya, making up 22% of the country's population. It is believed that the Kikuyu people migrated from Lake Chad to East Africa in 1000 AD, settling in the fertile central highlands of Kenya and engaging in farming.
curator note: Request inclusion into relevant ontology, possibly below "Ethnic Group" in NCIT?
definition source: who-are-the-kikuyu.html
existence in other ontologies: Few but definitions not freely available
dc:source: Demographic and Health Surveys Program (2015)
hasExactSynonym: Kikuyu Ethnic Group

Kisii
type: Class
subclass of: Ethnic Group
definition: The Kisii tribe (also known as the Gusii tribe) is a Bantu ethnic group who occupy the Kisii highlands in Nyanza, Western Kenya. The Kisiis constitute the sixth largest ethnic group, comprising about seven percent of the national population. Kisii, which is their ethnic language, is also traditionally known as Ekegusii.
curator note: Request inclusion into relevant ontology, possibly below "Ethnic Group" in NCIT?
definition source: kisii-tribe.html
existence in other ontologies: Few but definitions not specific enough
dc:source: Demographic and Health Surveys Program (2015)
hasExactSynonym: Gusii
hasExactSynonym: Kisii Ethnic Group

Luhya
type: Class
subclass of: Ethnic Group
definition: The Luhya ethnic group, also known as the Abaluhya, Baluhya, or Abaluyia, is a Bantu tribe living in Kenya's agriculturally fertile western region. They are the second largest tribe in Kenya and neighbors to some of the Nilotic tribes, including the Luo, Kalenjin, Maasai and Teso (Iteso).
curator note: Request inclusion into relevant ontology, possibly below "Ethnic Group" in NCIT?
definition source: luhya-tribe.html
existence in other ontologies: None
dc:source: Demographic and Health Surveys Program (2015)
hasExactSynonym: Luhya Ethnic Group

Luo
type: Class
subclass of: Ethnic Group
definition: Luo, also called Joluo or Kavirondo constitute the fourth largest ethnic group in Kenya. The Luo speak a Nilotic language of the Nilo-Saharan language family.
curator note: Request inclusion into relevant ontology, possibly below "Ethnic Group" in NCIT?
definition source: Luo-people
existence in other ontologies: Few but definitions not freely available
dc:source: Demographic and Health Surveys Program (2015)
hasExactSynonym: Luo Ethnic Group

Maasai
type: Class
subclass of: Ethnic Group
definition: A smaller ethnic group, accounting for only about 0.7 percent of Kenya's population, with a similar number living in Tanzania. Maasais speak Maa, a Nilotic ethnic language from their origin in the Nile region of North Africa.
curator note: Request inclusion into relevant ontology, possibly below "Ethnic Group" in NCIT?
definition source: maasai-tribe.html
existence in other ontologies: None
dc:source: Demographic and Health Surveys Program (2015)
hasExactSynonym: Maasai Ethnic Group

Peulh
type: Class
subclass of: Ethnic Group
existence in other ontologies: None
hasExactSynonym: Peulh Ethnic Group

Yoruba
type: Class
subclass of: Ethnic Group
definition: Yoruba is an ethnic group coming from Nigeria and well settled along the eastern boundary of Benin. They are more than 18% of the population. The majority of the Yoruba people in Benin are descendants of the Ife tribe, and the Yoruba people are predominantly of the Muslim religion.
curator note: Request inclusion into relevant ontology, possibly below "Ethnic Group" in NCIT?
definition source: major-ethnic-groups-of-benin.html
existence in other ontologies: Few but definitions not specific enough
dc:source: Demographic and Health Surveys Program (2011-2012)
hasExactSynonym: Yoruba Ethnic Group

Meru
type: Class
subclass of: Ethnic Group
definition: The Meru tribe or Merus is a Bantu ethnic group. They reside on Mount Kenya's agriculturally rich northeastern slopes, in Kenya's Eastern Province. The name Meru refers to both the people and the location. Merus are primarily agrarian, raising a few domestic animals.
curator note: Request inclusion into relevant ontology, possibly below "Ethnic Group" in NCIT?
definition source: meru-tribe.html
existence in other ontologies: Not relevant to context of sickle cell
dc:source: Demographic and Health Surveys Program (2015)
hasExactSynonym: Meru Ethnic Group

Mijikenda/Swahili
type: Class
subclass of: Ethnic Group
definition: The Mijikenda tribe is a Kenyan coastal Bantu tribe that consists of nine closely related sub-tribes. "Mijikenda" literally means nine homes or nine homesteads (in Swahili), referring to the common ancestry of the Mijikenda people. The nine Mijikenda sub-tribes are believed to be nine different homes of the same tribe. Each sub-tribe speaks its own dialect of the Mijikenda language.
curator note: Request inclusion into relevant ontology, possibly below "Ethnic Group" in NCIT?
definition source: mijikenda-tribe.html
existence in other ontologies: Negligable
dc:source: Demographic and Health Surveys Program (2015)
hasExactSynonym: Mijikenda
hasExactSynonym: Mijikenda Ethnic Group

Somali
type: Class
subclass of: Ethnic Group
definition: A Cushitic speaking people comprising a small minority of Kenya's population. The Somali tend large herds of cattle, goats, sheep, and camels in the dry, arid lands of Northern Kenya. They are politically well organized and are united by both family allegiances and political treaties. The Somali also produce exquisitely carved headrests and woven artifacts.
curator note: Request inclusion into relevant ontology, possibly below "Ethnic Group" in NCIT?
definition source: kethnic.htm
existence in other ontologies: Few but definitions not freely available
dc:source: Demographic and Health Surveys Program (2015)
hasExactSynonym: Somali Ethnic Group

Taita/Taveta
type: Class
subclass of: Ethnic Group
definition: The Taita people are a Bantu tribe living in the Taita Hills on Kenya's southwest, near the Tanzania border and surrounding plains. Taita tribe actually consists of three separate but closely-related tribes: Wadawida (or Taita), Wasaghala (Sagalla) and Wataveta (Taveta).
curator note: Perhaps change label to "Taveta"? Include the Wadawida (or Taita), Wasaghala (Sagalla) and Wataveta (Taveta) as sub-classes? Request inclusion into relevant ontology, possibly below "Ethnic Group" in NCIT?
definition source: taita-tribe.html
existence in other ontologies: Negligable
dc:source: Demographic Health and Surveys Program (2015)
hasExactSynonym: Taita/Taveta Ethnic Group
hasExactSynonym: Taveta Ethnic Group

Borana
type: Class
subclass of: Ethnic Group
definition: The Borana are a branch of the populous Oromo people found in southern Ethiopia and northern Kenya.
curator note: Request inclusion into relevant ontology, possibly below "Ethnic Group" in NCIT?
definition source: https://www.tandfonline.com/doi/pdf/10.1080/17531050701452598
existence in other ontologies: Negligable
dc:source: Demographic and Health Surveys Program (2015)
hasExactSynonym: Borana Ethnic Group

Maragoli
type: Class
subclass of: Ethnic Group
definition: It is the second largest sub-tribe of the Luhya ethnic group in Kenya.
curator note: Request inclusion into relevant ontology, possibly below "Ethnic Group" in NCIT?
definition source: luhya-tribe.html
existence in other ontologies: None
dc:source: Demographic and Health Surveys Program (2015)
hasExactSynonym: Maragoli Ethnic Group

Pokot
type: Class
subclass of: Ethnic Group
definition: The Pokot are a Kalenjin-speaking people whose language incorporates words from the neighboring Karamojong and Turkana. The Pokot live in an ecologically complex region that extends from the plains of eastern Uganda across the highlands of northwestern Kenya to the plains of Lake Baringo.
curator note: Request inclusion into relevant ontology, possibly below "Ethnic Group" in NCIT?
definition source: pokot
existence in other ontologies: None
dc:source: Demographic Health and Surveys Program (2015)
hasExactSynonym: Pokot Ethnic Group

Turkana
type: Class
subclass of: Ethnic Group
definition: The Turkana tribe is a nomadic pastoralist people that inhabit the Turkana district in Kenya's Rift Valley Province. Turkana tribe is part of the Nilotic tribes and constitutes the second largest pastoralist community in Kenya after the Maasais. They speak the Turkana language, which is Nilotic and similar to the Maasai language.
curator note: Request inclusion into relevant ontology, possibly below "Ethnic Group" in NCIT?
definition source: turkana-tribe.html
existence in other ontologies: None
dc:source: Demographic and Health Surveys Program (2015)
hasExactSynonym: Turkana Ethnic Group

Bassa
type: Class
subclass of: Ethnic Group
definition: Bassa is a Niger-Congo Kru language. Historians have traced the Bassa's origins back to Egypt nearly six thousand years ago. Due to their migration from Egypt to other parts of Africa, the Bassa in Liberia share a similar history with Bassa groups in other parts of the continent such as Nigeria (Bassa Nge), The Democratic Republic of the Congo (Bassaa la Mpasu), Togo (Basa'r), Senegal (Bassa-Ri), and Cameroon (Basaa Mpoo).
curator note: Request inclusion into relevant ontology, possibly below "Ethnic Group" in NCIT?
definition source: Bassa.pdf
existence in other ontologies: Negligable
dc:source: Demographic and Health Surveys Program (2013)
hasExactSynonym: Bassa Ethnic Group

Spectrophotometry
type: Class
subclass of: Physical Detection Method
definition: Spectrophotometry involves the use of a spectrophotometer to measure the amount of light that a sample absorbs. The instrument operates by passing a beam of light through a sample and measuring the intensity of light reaching a detector.
definition source: http://bioportal.bioontology.org/ontologies/BAO/
existence in other ontologies: Sufficient
previous identifier: SCDO:1000142
database cross reference: BAO:0000049
hasExactSynonym: Spectrophotometry Method

Disease Management Guideline
type: Class
subclass of: Guideline
definition: A recommendation on the appropriate treatment and care of people with a specific disease or condition, based on the best available evidence, designed to help healthcare professionals in their work.
definition source: d4e2515
existence in other ontologies: Sufficient
previous identifier: SCDO:1000143
creator: SCDO (Jade Hotchkiss)
database cross reference: FaBiO:d4e2515
hasExactSynonym: Clinical Guideline

Recommendations for the Management of Sickle Cell Disease in South Africa
type: Class
subclass of: Disease Management Guideline
definition: Management protocols for the purposes of consistency and standardisation, which could also facilitate sharing of resources between centers for maximal utility. These recommendations have been developed for the South African setting, and it is intended to update them regularly to meet new demands and challenges.
curator note: Probably not necessary to include in other ontologies.
definition source: N A Alli, M Patel, H D Alli, et al. Recommendations for the management of sickle cell disease in South Africa. SAMJ. 2014, Vol. 104, No. 11.
existence in other ontologies: None
comment: South African Management Guidelines

National Guideline for the Control and Management of Sickle Cell Disease
type: Class
subclass of: Disease Management Guideline
definition: Guidelines for the management of specific clinical problems and protocols for various therapeutic procedures for patients with sickle cell disease and thalassaemia; to facilitate uniformity and standardization of care across different disciplines.
curator note: Probably not necessary to include in other ontologies.
definition source: National guideline for the control and management of sickle cell disease. 2014.
existence in other ontologies: None
comment: A Nigerian document.

Management of Sickle Cell Disease - The United Republic of Tanzania
type: Class
subclass of: Disease Management Guideline
definition: Guidelines for health care professionals for management of sickle cell disease in patients in the Tanzanian context.
curator note: Probably not necessary to include in other ontologies.
definition source: Management of Sickle Cell Disease - The United Republic of Tanzania
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
comment: Tanzania Management Guidelines

A Parental Guide to Managing Sickle Cell Disease
type: Class
subclass of: Disease Management Guideline
definition: A booklet with information and standard guidelines to help parents learn about sickle cell disease and how to take care of their children with sickle cell disease.
curator note: Probably not necessary to include in other ontologies.
definition source: A parent's guide to managing sickle cell disease. Brent Sickle Cell and Thalassaemia Centre. 3rd Edition 2012.
existence in other ontologies: None
comment: A UK document.(for parents)

Standards for Clinical Care of Adults with Sickle Cell Disease in the UK
type: Class
subclass of: Disease Management Guideline
definition: A document that includes standards and guidelines for clinical care and recommendations for how care for adults with sickle cell disease should be delivered.
curator note: Probably not necessary to include in other ontologies.
definition source: Standards for Clinical Care of Adults with Sickle Cell Disease in the UK, 2nd Edition. 2018, Sickle Cell Society.
existence in other ontologies: None
comment: A UK document (for adults with SCD)

Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit
type: Class
subclass of: Disease Management Guideline
definition: The second edition of the Clinical Care Guidelines of the Sickle Cell Unit, containing revised and expanded guidelines for the management of sickle cell disease. It outlines a standard of care that is informed by best practice, taking into account resource limitations locally and regionally. It also contains patient information leaflets.
curator note: Probably not necessary to include in other ontologies.
definition source: Sickle Cell Disease: The Clinical Care Guidelines of the Sickle Cell Unit, 2015
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
comment: Jamaican Management Guidelines

Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada
type: Class
subclass of: Disease Management Guideline
definition: Standard of care guidelines that promote excellence in sickle cell care, and that lead to improved patient experiences around care and treatment.
curator note: Probably not necessary to include in other ontologies.
definition source: Segbefia C, Pendergrast J, Amid A, et al. 2015. Consensus Statement on the Care of Patients with Sickle Cell Disease in Canada. The Canadian Haemoglobinopathy Association.
existence in other ontologies: None
comment: A Canadian document.

Sickle Cell Disease in Children, Standards and Guidelines for Clinic Care
type: Class
subclass of: Disease Management Guideline
definition: A document that include standards and guidelines for clinical care and recommendations for how care for children with sickle cell disease should be delivered.
curator note: Probably not necessary to include in other ontologies.
definition source: Sickle cell disease in children, standards and guidelines for clinic care. 2nd edition. October 2010
existence in other ontologies: None
comment: A UK document (for children with SCD)

Evidence-Based Management of Sickle Cell Disease
type: Class
subclass of: Disease Management Guideline
definition: Guidelines providing the best science-based recommendations to guide practice decisions for primary care providers and other clinicians, nurses, and staff who provide emergency or continuity care to individuals with sickle cell disease (SCD). They assist health care professionals in the management of common issues, including routine health maintenance, the recognition and treatment of common acute and chronic complications and comorbidities of SCD, as well as the indications for and monitoring of hydroxyurea and blood transfusion therapy. The guidelines address the care of infants, children, adolescents, and adults with SCD, with the goal of facilitating high-quality and appropriate care for all individuals with this disease.
curator note: Probably not necessary to include in other ontologies.
definition source: Evidence-Based Management of Sickle Cell Disease: Expert Panel Report, 2014
existence in other ontologies: None
comment: USA Management Guidelines Children

Management of Children with Sickle Cell Disease in Europe: Current Situation and Future Perspectives
type: Class
subclass of: Disease Management Guideline
definition: A review of service delivery across Europe to children with sickle cell disease (SCD), reporting on the available minimum standards of care and future perspectives.
curator note: Probably not necessary to include in other ontologies.
existence in other ontologies: None
dc:source: Colombatti R and Sainati L. Management of children with sickle cell disease in Europe: current situation and future perspectives. EMJ Hematol. 2016;4[1]:129-135.
comment: European document (Colombatti)

ENERCA Clinical Recommendations for Disease Management and Prevention of Complications of Sickle Cell Disease in Children
type: Class
subclass of: Disease Management Guideline
definition: A document that describes various ways in which sickle cell disease can be managed and its complications can be prevented in children.
curator note: Probably not necessary to include in other ontologies.
existence in other ontologies: None
dc:source: Am J Hematol. 2011 Jan;86(1):72-5. doi: 10.1002/ajh.21865.
comment: European document for children with SCD (Montalambert)

Family Study
type: Class
subclass of: Epidemiologic Studies
definition: Research conducted on members of families, examining the affects of genetics, the environment, or twin offspring.
definition source: https://bioportal.bioontology.org/ontologies/EDDA/
existence in other ontologies: Sufficient
previous identifier: SCDO:1000155
database cross reference: EDDA:familial_study
hasExactSynonym: Familial Studies
hasExactSynonym: Familial Study
hasExactSynonym: Family Based Study
hasExactSynonym: Family Study

Quality of Life Related Personal Attribute
type: Class
subclass of: Quality of Life
definition: The distinguishing qualities or prominent aspects of an individual person that have some relation with quality of life.
curator note: Probably too specific to SCDO to be included in other ontologies?
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Crystallised Hemoglobin
type: Class
subclass of: Abnormal Hemoglobin
definition: Hemoglobin that has undergone conformational changes resulting in increased hydrophobicity that results in the formation of solid crystals consisting of hemoglobin particles.
curator note: Request inclusion into the HPO, below "Abnormal Hemoglobin".
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)
hasExactSynonym: Crystallised Haemoglobin
hasExactSynonym: Crystallized Haemoglobin
hasExactSynonym: Crystallized Hemoglobin
hasExactSynonym: Haemoglobin Crystals
hasExactSynonym: Hemoglobin Crystals

Hemoglobin Genotype S/Beta Minus Thalassaemia
type: Class
subclass of: Hemoglobin Genotype S/Beta Thalassemia
subclass of: Restriction
  on property: causes condition
  some values from: Sickle Cell Disease-S Beta Minus Thalassemia
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: Beta-Minus Thalassemia Mutation
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU6VAL
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Hemoglobin S
subclass of: Restriction
  on property: causes molecular phenotype
  some values from: Reduced Hemoglobin A
definition: When one beta-globin gene carries the hemoglobin S mutation (beta6Glu>Val) whereas the other carries a mutation that reduces the amount of beta-globin chain synthesised.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO (Jade Hotchkiss)

Guideline
type: Class
subclass of: SCDO
definition: Work consisting of a set of statements, directions, or principles presenting current or future rules or policy. Guidelines may be developed by government agencies at any level, institutions, organizations such as professional societies or governing boards, or by the convening of expert panels. The text may be cursive or in outline form, but it is generally a comprehensive guide to problems and approaches in any discipline or activity. This concept relates to the general conduct and administration of health care activities rather than to specific decisions for a particular clinical condition.
curator note: Do we rather want to use the more specific MESH term "Practice Guideline"?
definition source: D016431
existence in other ontologies: Sufficient
previous identifier: SCDO:1000160
database cross reference: MESH:D016431

Hemoglobin Genotype AS
type: Class
subclass of: SCD Genotype
subclass of: Restriction
  on property: causes condition
  some values from: Sickle Cell Trait
subclass of: Restriction
  on property: has contributing genetic variation
  some values from: HBB, GLU6VAL
definition: A genotype whereby one HBB allele produces hemoglobin beta chains for normal adult hemoglobin and the other produces the abnormal hemoglobin beta chains of hemoglobin S. Individuals with this genotype are known to be carriers of the sickle cell trait.
curator note: Request inclusion into relevant ontology
existence in other ontologies: None
creator: SCDO
hasExactSynonym: Haemoglobin Genotype AS
hasExactSynonym: Sickle Cell Trait Genotype