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. Anyone can access the resource. Manually, based on terms in existing ontologies and in collaboration with sickle cell disease (SCD) experts where necessary. As necessary. Not currently following a fixed frequency. Terms/classes are added as they are identified as necessary by the sickle cell disease (SCD) community. Researchers in Hemoglobinopathy and/or sickle cell disease (SCD), SCD patients and clinicians. First draft was made available in BioPortal in May 2017 OBO Foundry standards. The field of sickle cell disease (SCD) research and care. April 2021 English GPL-3.0 The official definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions. no definition For external terms/classes, the ontology from which the term was imported. no metadata complete - requires restrictions and relationships IAO:0000412 imported from Use on obsolete terms, relating the term to another term that can be used as a substitute. IAO:0100001 term replaced by An administrative note of use for a curator but of no use for a user. no organizational term IAO:0000232 editor_notes curator note 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. yes metadata complete - requires restrictions and relationships IAO:0000119 definition source description source An assertion of whether or not the term/class description is an adaptation of the description in the description source. Requested inclusion of this property into RO. Check details here again after inclusion. metadata complete - requires restrictions and relationships SCDO '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. This property is required unless dc:creator is "SCDO". description adapted from source 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. 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? metadata complete - requires restrictions and relationships SCDO has age of onset A relation between a measure (e.g. a survey) and how the measure has been adapted cross-culturally. Requested inclusion of this property into RO. Check details here again after inclusion. Should be restricted to all measure/questionnaire classes. metadata complete - requires restrictions and relationships SCDO has cross-cultural adaptation A relationship between a condition/disease and a description of how the condition/disease is staged/graded. Requested inclusion of this property into RO. Check details here again after inclusion. metadata complete - requires restrictions and relationships SCDO Staging provided is disease/phenotype specific. has disease stage 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. Requested inclusion of this property into RO. Check details here again after inclusion. To be applied to "Measurement", "Test, Method or Assay", "Therapeutics" metadata complete - requires restrictions and relationships SCDO has protocol A relation between a measure or measurement and the recommended procedure used by the measure or used to obtain the measurement. Requested inclusion of this property into RO. Check details here again after inclusion. metadata complete - requires restrictions and relationships SCDO has recommended procedure 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. Requested inclusion of this property into RO. Check details here again after inclusion. Should be restricted to all measure/questionnaire classes. no metadata complete - requires restrictions and relationships SCDO 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 respondents A relation between a measure (e.g. a survey) and the population that the measure was designed to target. Requested inclusion of this property into RO. Check details here again after inclusion. Should be restricted to all measure/questionnaire classes. metadata complete - requires restrictions and relationships SCDO Possible values used in the SCDO: Healthy Population; Clinic Patients (Children and/or Adults with SCD); Family Members; and/or Health Care Provider has target population An account of known translations of a measure into other languages (other than English). Requested inclusion of this property into RO. Check details here again after inclusion. Should be restricted to all measure/questionnaire classes. metadata complete - requires restrictions and relationships SCDO has translations A relation between a planned process and an objective it can be used to achieve. Requested inclusion of this property into RO. Check details here again after inclusion. This property is originally an object property. metadata complete - requires restrictions and relationships has_application_toward Eventually to be replaced by "is caused by" object property metadata incomplete is caused by A relationship between a condition (a phenotype or disease) and a description of distinctive characteristics or essential features. Requested inclusion of this property into RO. Check details here again after inclusion. metadata complete - requires restrictions and relationships SCDO is characterised by Description inherent in name (not provided by source) Only label adapted organizational term Used for properties, not classes. For classes, use "has curation status" object property. property has curation status A relation between a selected entity and the predefined criteria that were met by the entity and that made it eligible for selection. Requested inclusion of this property into RO. Check details here again after inclusion. Should be restricted to all measure/questionnaire classes. metadata complete - requires restrictions and relationships SCDO selection criteria met A relation between a measure and the age ranges for which the measure has been validated. Requested inclusion of this property into RO. Check details here again after inclusion. Should be restricted to all measure/questionnaire classes. metadata complete - requires restrictions and relationships SCDO validated for age ranges A relation between a measure (e.g. a survey) and an indication of whether the measure is freely available. Requested inclusion of this property into RO. Check details here again after inclusion. Should be restricted to all measure/questionnaire classes. metadata complete - requires restrictions and relationships SCDO 'yes' indicates that the measure is freely available. 'no' indicates that the measure is not freely available. freely available Records the slider label used by REDCap for a data element that uses a slider to collect data. SCDO (Jade Hotchkiss) has slider label curation status - complete curation status - incomplete 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. SCDO (Jade Hotchkiss) requires additional code 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. SCDO (Jade Hotchkiss) 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 existence in other ontologies Records the answer options text for input in Redcap for a data element that provides answer options. SCDO (Jade Hotchkiss) has answer options text Records the field label of a data element. SCDO (Jade Hotchkiss) has field label Records the variable of the associated data element from a REDCap data capture instrument. SCDO (Jade Hotchkiss) has redcap variable Records the section of a CRF in which a data element occurs. SCDO (Jade Hotchkiss) in CRF section Records the calculation used to automatically calculate the value for a data element in REDCap. SCDO (Jade Hotchkiss) has calculation equation Records a data element's field note (a note provided below the answer field). SCDO (Jade Hotchkiss) has field note 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. SCDO (Jade Hotchkiss) order in CRF section Used to provide a list of sections present in a questionnaire/instrument. SCDO (Jade Hotchkiss) has sections Records the type of validation used for a data element in REDCap. SCDO (Jade Hotchkiss) has redcap validation Records the branching logic applied to a data element in REDCap. SCDO (Jade Hotchkiss) has branching logic Records the mainimum value that is accepted for a data element that has validation applied to it in REDCap. SCDO (Jade Hotchkiss) has redcap min number validation Records the maximum value that is accepted for a data element that has validation applied to it in REDCap. SCDO (Jade Hotchkiss) has redcap max number validation Records the field annotations of a data element in REDCap. SCDO (Jade Hotchkiss) has redcap field annotation Used to show if a data element is considered an "identifier" (meaning it contains identifying information). SCDO (Jade Hotchkiss) is identifier Used to show if a data element is a required field. "y" is assigned to it if the data element is a required field. SCDO (Jade Hotchkiss) required field Records the custom alignment of a data element in REDCap. SCDO (Jade Hotchkiss) custom alignment Records a data element's field type, as per REDCap. SCDO (Jade Hotchkiss) has field type Used to record the matrix group that a data element occurs in. SCDO (Jade Hotchkiss) in matrix group An indication of whether or not a data element with a dropdown field should be autocompleted. Annotation is either "yes" or "no". SCDO (Jade Hotchkiss) autocomplete 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". SCDO (Jade Hotchkiss) show slider Used to record the identifier that had been used previously but is no longer in use. SCDO (Jade Hotchkiss) previous identifier 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. yes metadata complete - requires restrictions and relationships abbreviation discarded/obsoleted synonym plural form layperson term A legal document giving official permission to do something with a Resource. no ontology annotation property dc:LicenseDocument License Document A summary of the resource. no ontology annotation property dc:abstract Abstract Information about who can access the resource or an indication of its security status. no ontology annotation property dc:accessRights Access Rights The method by which items are added to a collection. no ontology annotation property dc:accrualMethod Accrual Method The frequency with which items are added to a collection. no ontology annotation property dc:accrualPeriodicity Accrual Periodicity The policy governing the addition of items to a collection. no ontology annotation property dc:accrualPolicy Accrual Policy A class of entity for whom the resource is intended or useful. no ontology annotation property dc:audience Audience Date (often a range) that the resource became or will become available. no ontology annotation property dc:available Date Available An established standard to which the described resource conforms. no ontology annotation property dc:conformsTo Conforms To The spatial or temporal topic of the resource, the spatial applicability of the resource, or the jurisdiction under which the resource is relevant. no ontology annotation property dc:coverage Coverage 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. no ready for release dc:creator Creator A related resource that references, cites, or otherwise points to the described resource. no ontology annotation property dc:isReferencedBy Is Referenced By Date of formal issuance (e.g., publication) of the resource. no ontology annotation property dc:issued Date Issued A language of the resource. no ontology annotation property Recommended best practice is to use a controlled vocabulary such as RFC 4646 [RFC4646]. dc:language Language A legal document giving official permission to do something with the resource. no ontology annotation property dc:license License A related resource from which the described class/term's annotations are derived. yes pending vetting by the SCDO developers dc:source synonym_type_property An alias in which the alias is broader than the primary class name. Example: cell division is a broad synonym of cytokinesis. no pending vetting by the SCDO developers hasBroadSynonym A database cross-reference. An annotation which directs one to information contained within a database. metadata complete - requires restrictions and relationships SBO:0000554 DbXref Xref database cross-reference database_cross_reference db xref hasDbXref database cross reference An alias in which the alias exhibits true synonymy. Example: ornithine cycle is an exact synonym of urea cycle. no pending vetting by the SCDO developers hasExactSynonym 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. no pending vetting by the SCDO developers hasNarrowSynonym 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. no pending vetting by the SCDO developers hasRelatedSynonym An annotation property used to further annotate synonym axioms. has_synonym_type Additional information describing the class/term. yes rdfs:comment A human-readable name for the class/term. yes rdfs:label Further information about the class/term. yes rdfs:seeAlso The annotation property that indicates that a given entity has been deprecated. deprecated A preferred label. yes pending vetting by the SCDO developers skos:prefLabel 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). no metadata complete - requires restrictions and relationships RO:0002200 has phenotype Inverse of "has phenotype" object property. If required later, specify as inverse of "has phenotype" in Protege. no metadata complete - requires restrictions and relationships phenotype of 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). Description adapted from RO. Suggest this description be updated in RO. RO:0002452 has symptom 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. RO:0003302 causes or contributes to condition 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. RO:0003303 results_in causes condition 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. RO:0003306 contributes to frequency of condition 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. RO:0003307 ameliorates condition 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. RO:0003309 exacerbates condition 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. RO:0003310 condition ameliorated by 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. RO:0003311 condition exacerbated by 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) SCDO (Jade Hotchkiss) age of onset modified by A relationship between a condition (phenotype or disease) and a relevant ICD-10-CM Diagnosis Code. None SCDO (Jade Hotchkiss) has clinical code A relation between a device (diagnostic device) and the recording of the output (diagnostic measurement) of the device. SCDO (Jade Hotchkiss) has output measurement A relation between a process (e.g. a form of therapy) and a medical device, where the medical device is used in the process. SCDO (Jade Hotchkiss) uses medical device 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. SCDO (Jade Hotchkiss) caused or contributed to by A relation between a phenotype that is a diagnosis and a diagnostic tool used in making the diagnosis. SCDO (Jade Hotchkiss) diagnosed using tool 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. If required later, specify as inverse of "treats". SCDO (Jade Hotchkiss) treated with A relationship between a phenotype and a disease modifier, where the disease modifier modifies the mortality (due to the phenotype) of the SCD sufferer. SCDO (Jade Hotchkiss) mortality modified by 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) SCDO (Jade Hotchkiss) temporal pattern modified by 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. SCDO (Jade Hotchkiss) Essential measures have been attributed according to information in PhenX. has essential measure 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. SCDO (Jade Hotchkiss) has mode of inheritance 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. SCDO (Jade Hotchkiss) modified by 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. SCDO (Jade Hotchkiss) modifies 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. If required later, specify as inverse of "treated with". SCDO (Jade Hotchkiss) treats 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. SCDO (Jade Hotchkiss) has diagnostic device A relation between a condition (hemoglobinopathy) and the genotype that causes the condition. SCDO (Jade Hotchkiss) has causal genotype An object property that specifies the type of an ICD-10-CM code, whether Billable or Non-Billable. SCDO (Jade Hotchkiss) is ICD-10-CM code type 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. SCDO (Jade Hotchkiss) manifestation of A relation between a phenotype that is a symptom (subjective evidence of disease perceived by the patient) and a disease. SCDO (Jade Hotchkiss) symptom of A relationship between 'a' and 'b', where 'a' has some causal role for 'b'. SCDO (Jade Hotchkiss) causes or contributes to 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. SCDO (Jade Hotchkiss) contributes to genotype A relation between a condition (Hemoglobinopathy) and a form of research (type of study) that the condition was studied in. SCDO (Jade Hotchkiss) studied in A relation between a condition (disease or phenotype) and a type of linking association (e.g. age of onset association). SCDO (Jade Hotchkiss) associated via A relationship between a diagnostic measurement and the diagnostic tool used to produce the measurement. SCDO (Jade Hotchkiss) obtained via diagnostic tool A relationship between a diagnostic device and the diagnostic tool by which the device is used. SCDO (Jade Hotchkiss) used by diagnostic tool 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. SCDO (Jade Hotchkiss) uses diagnostic device A relation between a diagnostic measurement and a diagnostic device, where the diagnostic measurement is the output of the diagnostic device. SCDO (Jade Hotchkiss) output of diagnostic device A relation between a diagnostic tool and the diagnostic measurement that it measures. SCDO (Jade Hotchkiss) measures A relation between a genotype and a genetic variation (e.g. mutation or genetic recombination), where the genetic variation contributes to the genotype. SCDO (Jade Hotchkiss) has contributing genetic variation A condition (phenotype or disease) or event (adverse event) induced by an entity (e.g. a drug) or activity (e.g. exercise). The "developmentally induced by" object property in RO has the alternative term "induced by". SCDO (Jade Hotchkiss) induced by 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. SCDO (Jade Hotchkiss) caused by 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. SCDO (Jade Hotchkiss) has risk factor 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. SCDO (Jade Hotchkiss) risk factor for 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. SCDO (Jade Hotchkiss) has causal or contributing genetic variation A relation between an entity (genotype) and a molecular phenotype, where the entity has some causal or contributing role that influences the molecular phenotype. SCDO (Jade Hotchkiss) causes or contributes to molecular phenotype 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. SCDO (Jade Hotchkiss) has manifestation A relation between a condition that is a diagnosis and a phenotype used in making the diagnosis. diagnosed by A relation between an Abnormal Phenotype that is a diagnosis and a Diagnostic Measurement or Diagnostic Device Visual Output used in making the diagnosis. SCDO (Jade Hotchkiss) diagnosed using measurement A relation between a genotype and a molecular phenotype, where the genotype has a causal role for the molecular phenotype. SCDO (Jade Hotchkiss) causes molecular phenotype A relation between a condition (disease such as a Hemoglobinopathy) and a molecular phenotype, where the molecular phenotype is evidence of the condition. SCDO (Jade Hotchkiss) has causal molecular phenotype A relationship between a Clinical or Research Assessment Data Element and a Clinical or Research Assessment Question Type. None SCDO (Jade Hotchkiss) is question type 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. None SCDO (Jade Hotchkiss) has answer option A relationship between a data element and the type of information that is collected by that data element. None SCDO (Jade Hotchkiss) collects 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. None SCDO (Jade Hotchkiss) has answer standard unit 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. SCDO (Jade Hotchkiss) has possible finding 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. SCDO (Jade Hotchkiss) diagnosed using finding 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. None SCDO (Jade Hotchkiss) has reference range standard unit 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. SCDO (Jade Hotchkiss) code requires phenotype A relation between an entity (phenotypic, therapeutic or diagnostic concept) and a guideline or directive. SCDO (Jade Hotchkiss) in guideline so:associated_with associated with 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). 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. None has lower limit of normal has lower reference limit has LLN 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. None has upper limit of normal has upper reference limit has ULN 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. SCDO (Jade Hotchkiss) min number of selections allowed 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. SCDO (Jade Hotchkiss) max number of selections allowed 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. None has lower limit of normal for males has LLN male 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. None has lower limit of normal for females has LLN female 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. None has lower limit of normal for children has LLN pediatric 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. None has upper limit of normal for males has ULN male 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. None has upper limit of normal for females has ULN female 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. None has upper limit of normal for children has ULN pediatric A spatiotemporal region encompassing some part of the life cycle of an organism. See specific stages in the "Human Developmental Stages Ontology" http://purl.obolibrary.org/obo/HsapDv_0000000 Sufficient SCDO:0007384 HsapDv:0000000 Developmental Stage Human Life Cycle Stage An information content entity specifying the upper and lower limit of a range of ages of continuants. Sufficient SCDO:1000403 APOLLO_SV:00000241 Age Range Category 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. http://purl.obolibrary.org/obo/ARO_0000006 Sufficient SCDO:0003119 ARO:0000006 Abomacetin Emgel Eritromicina Erymax Erythrocin Erythromycin A Erythromycine Erythromycinum N-methylerythromycin A Erythromycin 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. Sufficient SCDO:0000880 ARO:0000054 PCN Penicillins Penicillin 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. http://purl.obolibrary.org/obo/ARO_0000064 Sufficient SCDO:0002381 ARO:0000064 AMX Amolin Amopenixin Amoxicilina Amoxicilline Amoxicillinum Clamoxyl D-Amoxicillin Moxal Amoxycillin 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. 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". Sufficient SCDO:1000200 CHEBI:23888 Drug 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. http://purl.obolibrary.org/obo/CHEBI_35475 Sufficient SCDO:0005809 CHEBI:35475 Non-Steroidal Anti-Inflammatory Agent Non-Steroidal Anti-Inflammatory Drug A narcotic or opioid substance, synthetic or semisynthetic agent producing profound analgesia, drowsiness, and changes in mood. http://purl.obolibrary.org/obo/CHEBI_35482 Sufficient SCDO:0000836 CHEBI:35482 Opioid Analgesic Opioid 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. http://purl.obolibrary.org/obo/CHEBI_35493 Sufficient SCDO:0005335 CHEBI:35493 Anti-Pyretic Antipyretic 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. http://purl.obolibrary.org/obo/CHEBI_42797 Sufficient SCDO:0007493 CHEBI:42797 1-(Aminomethyl)cyclohexaneacetic acid Neurontin Gabapentin A natural or synthetic analogue of the hormones secreted by the adrenal gland. Sufficient SCDO:0003901 CHEBI:50858 Corticoides Corticosteroides Corticosteroids Corticosteroid 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. http://www.drugbank.ca/drugs/DB00327 Sufficient SCDO:0000577 CHEBI:5790 3-hydroxy-17-methyl-4,5alpha-epoxymorphinan-6-one Hydromorphone 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. http://purl.obolibrary.org/obo/CHEBI_60809 Sufficient SCDO:0000025 CHEBI:60809 Adjuvant Medicine Adjuvant 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. http://www.drugbank.ca/drugs/DB00333 Sufficient SCDO:0000752 CHEBI:6807 6-(dimethylamino)-4,4-diphenylheptan-3-one Physeptone Methadone 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. http://purl.obolibrary.org/obo/CHEBI_6909 Sufficient SCDO:0002912 CHEBI:6909 Satric Trichazol Metronidazole A semisynthetic derivative of codeine that acts as a narcotic analgesic more potent and addicting than codeine. http://www.drugbank.ca/drugs/DB00497 Sufficient SCDO:0000847 CHEBI:7852 14-hydroxy-3-methoxy-17-methyl-4,5alpha-epoxymorphinan-6-one Dihydrone An extended-release (ER) form of oxycodone (Xtampza ER) was approved for the management of daily, around-the-clock pain management in April, 2016. Oxycodone Column chromatography where the mobile phase is a liquid, the stationary phase consists of very small particles and the inlet pressure is relatively high. Perhaps change label to "Hemoglobin by High Performance Liquid Chromatography"? See dc:source provided. http://purl.obolibrary.org/obo/CHMO_0001009 Sufficient SCDO:0000563 CHMO:0001009 HPLC High Performance Liquid Chromatography High Pressure Liquid Chromatography High-Pressure Liquid Chromatography High-Performance Liquid Chromatography A test which produces colour change in the sample. http://purl.obolibrary.org/obo/CHMO_0002580 Sufficient SCDO:0000264 CHMO:0002580 Colorimetric Test Any value resulting from the quantification of a morphological or physiological parameter pertaining to the heart and/or blood vessels. http://purl.obolibrary.org/obo/CMO_0000001 Sufficient SCDO:0000186 CMO:0000001 Cardiovascular Measurement 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. There are many more specific sub-classes in the CMO. Are there any we want to include here? http://purl.obolibrary.org/obo/CMO_0000003 Sufficient SCDO:0000144 CMO:0000003 Blood Pressure Measurement Morphological measurement involving the entire body of an organism. http://purl.obolibrary.org/obo/CMO_0000011 Sufficient SCDO:0001245 CMO:0000011 Whole Body Morphological Measurement The level of heat in an organism. Sufficient SCDO:0000151 CMO:0000015 Body Temperature Measurement of the structure or forms of the entire body or parts of the body of an organism. Include the term "Body Composition" from PhenX? -- -- Any other relevant terms missing as sub-classes here? http://purl.obolibrary.org/obo/CMO_0000021 Sufficient SCDO:0000150 CMO:0000021 Anthropometric Measurement Anthropometrics Morphometry Body Morphological Measurement A quantification of a parameter of the chemical composition of blood. http://purl.obolibrary.org/obo/CMO_0000023 Sufficient SCDO:0000136 CMO:0000023 Blood Chemistry Measurement 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. http://purl.obolibrary.org/obo/CMO_0000025 Sufficient SCDO:0000973 CMO:0000025 Erythrocyte Count Erythrocyte Number Erythrocyte Numbers Red Blood Count Red Blood Cell Count The number of white blood cells in a specified volume of blood. http://purl.obolibrary.org/obo/CMO_0000027 Sufficient SCDO:0001243 CMO:0000027 Leukocyte Count White Corpuscle Count White Blood Cell Count The number of platelets (thrombocytes) in a specified volume of blood, usually expressed as platelets per cubic millimeter of whole blood. http://purl.obolibrary.org/obo/CMO_0000029 Sufficient SCDO:0000906 CMO:0000029 Blood Platelet Number Blood Platelet count Platelet Number Platelet Count 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. Sufficient SCDO:1000442 CMO:0000030 Neutrophil Granulocyte Count Blood Neutrophil Count A measurement of the blood, it's contents, cells or other factors contained within the blood. http://purl.obolibrary.org/obo/CMO_0000035 Sufficient SCDO:0000143 CMO:0000035 Blood Measurement 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. Perhaps include missing sub-classes of "Blood Cell Measurement" from the Clinical Measurement Ontology? http://purl.obolibrary.org/obo/CMO_0000036 Sufficient SCDO:0000135 CMO:0000036 Blood Cell Measurement Percentage of total blood volume that is made up of red blood cells. http://purl.obolibrary.org/obo/CMO_0000037 Sufficient SCDO:0000503 CMO:0000037 Hct Packed Cell Volume Packed Red Blood Cell Volume Hematocrit 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. http://purl.obolibrary.org/obo/CMO_0000038 Sufficient SCDO:0000723 CMO:0000038 MCV Mean Cell Volume Mean Corpuscular Volume The amount of creatinine, a catabolic product of creatine phosphate used in skeletal muscle contraction found in a specified volume of serum. Link to "Glomerular Filtration Rate"... which object property? Create a new one and suggest to RO? "used to calculate"? Sufficient SCDO:0001042 CMO:0000057 Creatinine Level Serum Creatinine Level A measurement to assess the morphological or physiological state of the respiratory system or portion of the respiratory system. http://purl.obolibrary.org/obo/CMO_0000094 Sufficient SCDO:0000995 CMO:0000094 Respiratory System Measurement The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter. Sufficient SCDO:1000441 CMO:0000111 Blood Granulocyte Count The amount of bilirubin found in a specific volume of blood. http://purl.obolibrary.org/obo/CMO_0000123 Sufficient SCDO:0000134 CMO:0000123 Bilirubin Level Blood Bilirubin Level Any measurement of the movement of blood through the heart and blood vessels. 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". Sufficient SCDO:0000142 CMO:0000195 Circulation Measurement Blood Flow Measurement Measurement to assess the sequential process through which multiple factors of the blood interact to form an insoluble fibrin clot. 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)? http://purl.obolibrary.org/obo/CMO_0000204 Sufficient SCDO:0000137 CMO:0000204 Blood Coagulation Measurement 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. Sufficient SCDO:0000014 CMO:0000210 APTT; Quick Activated Partial Thromboplastin Time 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. Sufficient SCDO:0000933 CMO:0000211 PTT Prothrombin Time 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. Sufficient SCDO:1000718 CMO:0000225 Arterial Blood Gas Measurement Any measurement of urine, the fluid waste product excreted by the kidneys, or its components. http://purl.obolibrary.org/obo/CMO_0000256 Sufficient SCDO:0001214 CMO:0000256 Urine Measurement 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. Sufficient SCDO:1000719 CMO:0000283 PaCO2 Partial Pressure of Blood Carbon Dioxide Partial Pressure of Blood Carbon Dioxide (Pco2) Partial Pressure of Carbon Dioxide (PaCO2) Pco2 Partial Pressure of Carbon Dioxide 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. http://purl.obolibrary.org/obo/CMO_0000290 Sufficient SCDO:0000722 CMO:0000290 MCH Mean Cell Hemoglobin Mean Cell Hemoglobin Level Mean Corpuscular Haemoglobin Mean Corpuscular Haemoglobin Level Mean Corpuscular Hemoglobin Mean Corpuscular Hemoglobin Level 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. Add the sub-class "mean corpuscular sickle hemoglobin concentration (MCSHC)"? (see https://www.ncbi.nlm.nih.gov/pmc/articles/PMC290884/pdf/jcinvest00309-0076.pdf) http://purl.obolibrary.org/obo/CMO_0000291 Sufficient SCDO:0000721 CMO:0000291 MCHC Mean Cell Hemoglobin Concentration Mean Corpuscular Haemoglobin Concentration Mean Corpuscular Hemoglobin Concentration The calculation of the cellular elements of the blood, usually including cell counts for white and red blood cells and platelets. http://purl.obolibrary.org/obo/CMO_0000364 PhenX protocol: Complete Blood Count #220501 Sufficient SCDO:0000270 CMO:0000364 Blood Cell Count Blood Cell Number CBC FBC Full Blood Count Complete Blood Count The total number of leukocytes in 1 cubic millimeter of peripheral venous blood. http://purl.obolibrary.org/obo/CMO_0000365 Sufficient SCDO:0001163 CMO:0000365 Total White Blood Cell Count The number of each type of leukocyte present in a specific volume of blood, usually 1 cubic millimeter. Perhaps add sub-classes from "Clinical Measurement Ontology"? http://purl.obolibrary.org/obo/CMO_0000366 Sufficient SCDO:0000140 CMO:0000366 Blood Differential Leukocyte Count Blood Differential WBC Count WBC Differential Count Blood Differential White Blood Cell Count 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. Sufficient SCDO:1000500 CMO:0000376 Total Serum Bilirubin Level 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. Sufficient SCDO:0000523 CMO:0000506 Hbtotal Hemoglobin Level Total Hemoglobin Total Hemoglobin (Hbtotal) ctHB Hemoglobin Concentration 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. Sufficient SCDO:1000249 CMO:0000507 Hemoglobin Absorbance A measure of the oxygen carrying pigment of erythrocytes. http://purl.obolibrary.org/obo/CMO_0000508 Sufficient SCDO:0000543 CMO:0000508 Hemoglobin Measurement Pressure exerted by the heart muscle in its maximally contracted state. http://purl.obolibrary.org/obo/CMO_0000665 Sufficient SCDO:0000499 CMO:0000665 Heart Contraction Pressure 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. http://purl.obolibrary.org/obo/CMO_0000921 Sufficient SCDO:0000907 CMO:0000921 Platelet Measurement Any measurement of a gas or gases dissolved in the blood, including oxygen, nitrogen carbon dioxide and/or hydrogen. Sufficient SCDO:1000312 CMO:0001321 Blood Gas Measurement The amount of oxygen bound to hemoglobin in the blood expressed as a percentage of the maximal binding capacity. Sufficient SCDO:0000848 CMO:0001324 HbO2 Oxyhemoglobin Saturation Oxyhemoglobin Saturation (HbO2) SO2 SaO2 Sats Oxygen Saturation 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. http://purl.obolibrary.org/obo/CMO_0001356 Sufficient SCDO:0000974 CMO:0001356 Erythrocyte Measurement Red Blood Cell Measurement 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. Sufficient SCDO:1000311 CMO:0002079 Body Weight of Neonate Neonatal Body Weight Birth Weight 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. http://purl.obolibrary.org/obo/CMO_0002341 Sufficient SCDO:0001244 CMO:0002341 White Blood Cell Measurement 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. Sufficient SCDO:0000467 CMO:0002520 Haptoglobin Level Haptoglobin Levels Serum Haptoglobin Level The amount of N-terminal (NT)-pro hormone BNP (Nppb) in a specified volume of blood. 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) Sufficient SCDO:0000786 CMO:0002876 BNPT Level Blood NH2-Terminal pro-B-Type Natriuretic Peptide Level N-Terminal Prohormone of Brain Natriuretic Peptide Level NT-proBNP Level NT-proBNP Measurement N-Terminal Pro-Brain Natriuretic Peptide Level A vitamin metabolic disorder that results from low blood levels of vitamin B12. Sufficient SCDO:0005733 DOID:0050731 Cobalamin Deficiency Hypocobalaminemia Vitamin B12 Deficiency A colitis caused by inadequate blood supply to the colon. Is diagnosed by: abdominal computed tomography scan http://purl.obolibrary.org/obo/DOID_0060181 Sufficient SCDO:0002870 DOID:0060181 Ischemic Cholitis 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. Sufficient SCDO:1000282 DOID:0111033 Bantu Siderosis Iron Overload in Africa African Iron Overload A neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve. Sufficient SCDO:0000769 DOID:1188 Single Damaged Nerve Mononeuropathy 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. 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. Sufficient SCDO:0000015 DOID:1584 Acute Chest Syndrome in Sickle Cell Disease 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. Acute Chest Syndrome 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. http://purl.obolibrary.org/obo/DOID_1826 Sufficient SCDO:0008484 DOID:1826 Epilepsy 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. http://purl.obolibrary.org/obo/DOID_2326 Sufficient SCDO:0007198 DOID:2326 Gastroenteritis 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. http://purl.obolibrary.org/obo/DOID_4 Sufficient SCDO:0001365 DOID:4 Disease An arthritis that involves infection by a pathogen located in a joint. http://purl.obolibrary.org/obo/DOID_813 Sufficient SCDO:0002067 DOID:813 Infected Joint Infectious Arthritis Septic Arthritis 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. http://purl.obolibrary.org/obo/DOID_9220 Sufficient SCDO:0000200 DOID:9220 Primary Central Sleep Apnea Central Sleep Apnea 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. http://www.drugbank.ca/drugs/DB06694 Sufficient SCDO:0001254 DRON:00017565 Balminil Otrivin Xylomethazoline Xylometazoline This requirement indicates that use of the data is limited to not-for-profit organizations and not-for-profit use, non-commercial use. Sufficient SCDO:1000413 DUO:0000018 Not for Profit Use Only This requirement indicates that requestor agrees to make results of studies using the data available to the larger scientific community. Sufficient SCDO:1000416 DUO:0000019 Publication Required This could be coupled with a string describing the primary study investigator(s). Sufficient SCDO:1000409 DUO:0000020 Collaboration Required This requirement indicates that the requestor must provide documentation of local IRB/ERB approval. Sufficient SCDO:1000410 DUO:0000021 Ethics Approval Required This should be coupled with an ontology term describing the geographical location the restriction applies to. Sufficient SCDO:1000411 DUO:0000022 Geographical Restriction This should be coupled with a date specified as ISO8601 Sufficient SCDO:1000415 DUO:0000024 Publication Moratorium This should be coupled with an integer value indicating the number of months. Sufficient SCDO:1000418 DUO:0000025 Time Limit on Use This requirement indicates that use is limited to use by approved users. Sufficient SCDO:1000419 DUO:0000026 User Specific Restriction This requirement indicates that use is limited to use within an approved project. Sufficient SCDO:1000414 DUO:0000027 Project Specific Restriction This requirement indicates that use is limited to use within an approved institution. Sufficient SCDO:1000412 DUO:0000028 Institution Specific Restriction This requirement indicates that the requestor must return derived/enriched data to the database/resource. Sufficient SCDO:1000417 DUO:0000029 Return to Database or Resource An environmental system process that results in the introduction of contaminants into an environment. http://purl.obolibrary.org/obo/ENVO_02500036 Sufficient SCDO:0000912 ENVO:02500036 Environmental Pollution Pollution 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. Sufficient SCDO:1000216 EUPATH:0000034 Alpha Thalassemia Genotype A clinical visit that is primarily for a regular examination. Sufficient SCDO:1000848 EUPATH:0000050 Routine Clinical Visit An anemia with hemoglobin levels less than 5 gm/dL. http://purl.obolibrary.org/obo/EUPATH_0000215 Sufficient SCDO:1000055 EUPATH:0000215 Severe Anemia An information content entity that is about a clinical visit. Sufficient SCDO:1000851 EUPATH:0000310 Information on Observation Details A scalar measurement datum of the concentration of urea in blood that is a specified output of a blood test. Sufficient SCDO:1000603 EUPATH:0021227 Serum Urea Concentration Blood Urea Concentration An individual attribute that is the usual or principal work or business of an individual. http://purl.obolibrary.org/obo/ExO_0000034 Sufficient SCDO:0000821 ExO:0000034 Career Employment Job Vocation Occupation 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. Sufficient SCDO:0000167 ExO:0000048 Built Environment A reference to a place on the Earth, by its name or by its geographical location. http://purl.obolibrary.org/obo/GAZ_00000448 Sufficient SCDO:0000451 GAZ:00000448 Geographic Region Geographic Location 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. Sufficient SCDO:1000672 GSSO:000109 Intersex Principles which provide a framework within which ethical dilemmas and other problems may be analyzed. Sufficient SCDO:1000427 GSSO:003239 Ethical Principle The pattern in which a particular genetic trait or disorder is passed from one generation to the next. http://purl.obolibrary.org/obo/HP_0000005 Sufficient SCDO:0001367 HP:0000005 Inheritance Mode of Inheritance 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. Sufficient SCDO:1000140 HP:0000006 Autosomal Dominant Form Autosomal Dominant Inheritance Autosomal Dominant Predisposition Autosomal Dominant 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). http://purl.obolibrary.org/obo/HP_0000007 Sufficient SCDO:0001368 HP:0000007 Autosomal Recessive Form Autosomal Recessive Inheritance Autosomal Recessive Predisposition Autosomal Recessive Absence of any measurable level of sperm in a male's semen. Sufficient SCDO:0000092 HP:0000027 Absent Sperm in Semen Azoospermia 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). Sufficient SCDO:0002903 HP:0000044 Hypogonadotropic Hypogonadism Secondary Hypogonadism Hypogonadotropic Hypogonadism An abnormality of the kidney. http://purl.obolibrary.org/obo/HP_0000077 Sufficient SCDO:0002133 HP:0000077 Abnormal Kidney Anomaly of the Kidney Renal Anomaly Abnormality of the Kidney An abnormality of the genital system. Sufficient SCDO:1000263 HP:0000078 Genital Abnormalities Genital Abnormality Genital Anomalies Genital Defects Abnormality of the Genital System An abnormality of the urinary system. Sufficient SCDO:0001347 HP:0000079 Anomaly of the Urinary System Urinary Tract Abnormalities Urinary Tract Abnormality Urinary Tract Anomalies Urinary Tract Anomaly Abnormality of the Urinary System An abnormal functionality of the genital system. Sufficient SCDO:1000270 HP:0000080 Abnormality of Genital Physiology Abnormality of Reproductive System Physiology 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. http://purl.obolibrary.org/obo/MP_0003606 Variable May be Acute (acute kidney injury) or chronic (chronic kidney disease). Has a variety of causes - dependent upon acuity - see definitions for acute kidney injury (acute renal failure) and chronic kidney disease. Sufficient SCDO:0000674 HP:0000084 Renal Failure Renal Insufficiency Treatment is dependent upon etiology and acuity. If refractory to medical therapy, renal replacement or dialysis may be indicated. Kidney Failure Scarring and fibrosis within the glomerulus. Any form of injury to the kidney can lead to glomerulosclerosis. Histologically noted by scarring and fibrosis in the glomerulus. Sufficient SCDO:0000460 NHLBI 2014 Guidelines HP:0000096 Glomerular Sclerosis Renal Glomerular Fibrosis Glomerulosclerosis Segmental accumulation of scar tissue in individual (but not all) glomeruli. Sufficient SCDO:0009968 HP:0000097 Focal Glomerulosclerosis Focal and Segmental Glomerular Sclerosis Focal and Segmental Glomerulosclerosis Focal Segmental Glomerulosclerosis Inflammation of the renal glomeruli. Provide source for additional info. May occur at any age. 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. 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. Sufficient SCDO:0000458 HP:0000099 GN Glomerular Nephritis Glomerulonephritis A nonspecific term referring to disease or damage of the kidneys. Sufficient SCDO:0000795 HP:0000112 Kidney Damage Kidney Disease Nephropathy A phenotype that shows detectable differences from normal. http://purl.obolibrary.org/obo/FYPO_0001985 Sufficient SCDO:0009818 HP:0000118 Phenotypic Abnormality Abnormal Phenotype The presence of inflammation affecting the kidney. Provide source for additional info. May be caused by autoimmune disease, allergic responses, toxic injury, infectious causes. May be associated with loss of kidney function, pyuria or hematuria, and proteinuria dependent upon cause. Sufficient SCDO:0000793 HP:0000123 Kidney Inflammation Nephritis Prolonged and/or excessive menses at regular intervals in excess of 80 ml or lasting longer than 7 days. Provide source for additional info. http://purl.obolibrary.org/obo/HP_0000132 Sufficient SCDO:0000745 HP:0000132 Abnormally Heavy Bleeding During Menstruation Hypermenorrhea Menorrhagia Hemorrhage affecting the gingiva. http://purl.obolibrary.org/obo/HP_0000225 Sufficient SCDO:0000452 HP:0000225 Bleeding Gums Gingival Hemorrhage Gingivorrhagia Gingival Bleeding An abnormality of the face. http://purl.obolibrary.org/obo/HP_0000271 Sufficient SCDO:0003024 HP:0000271 Facial Abnormality Abnormality of the Face Inflammation or infection of the middle ear. Source needed for additional information. http://purl.obolibrary.org/obo/HP_0000388 Sufficient SCDO:0000846 HP:0000388 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 Otitis Media Any abnormality of the eye, including location, spacing, and intraocular abnormalities. Sufficient SCDO:1000294 HP:0000478 Abnormality of the Eye 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. Sufficient SCDO:1000022 HP:0000505 Impaired Vision Impaired Visual Function Loss of Eyesight Poor Vision Visual Impairment 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. Sufficient SCDO:1000021 HP:0000618 Total Vision Loss Blindness Any abnormality of the nervous system. http://purl.obolibrary.org/obo/HP_0000707 Sufficient SCDO:0009698 HP:0000707 Brain and/or Spinal Cord Issue Neurologic Abnormalities Neurological Abnormality Abnormality of the Nervous System An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. Include "Poor School Performance" as a sub-class. http://purl.obolibrary.org/obo/HP_0000708 Sufficient SCDO:0000105 HP:0000708 Behavioral Abnormality Behavioural Abnormality Behavioural Changes Behavioural Disorders Behavioural Disturbances Behavioural Problems Behavioural Symptoms Behavioural/Psychiatric Abnormalities Behavioural/Psychiatric Abnormality Psychiatric Disorders Psychiatric Disturbances Behavioural Abnormality 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. Check and show which source was used for the description and whether the description was adapted from the source. -- Provide source for additional info. Sufficient SCDO:0000345 HP:0000726 Dementia, Progressive Progressive Dementia Dementia Peripheral neuropathy affecting the sensory nerves. http://purl.obolibrary.org/obo/HP_0000763 Sufficient SCDO:0001038 HP:0000763 Peripheral Sensory Neuropathy Sensory Neuropathy Inability to produce live offspring. Sufficient SCDO:0000639 HP:0000789 Sterility Infertility Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. Sufficient SCDO:0000827 HP:0000798 Low Sperm Count Oligospermia 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. http://purl.obolibrary.org/obo/HP_0000805 Sufficient SCDO:0000434 HP:0000805 Enuresis 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. Provide source for additional info. http://purl.obolibrary.org/obo/HP_0000815 Sufficient SCDO:0000586 HP:0000815 Hypergonadotrophic Hypogonadism Primary Hypogonadism Hypergonadotropic Hypogonadism An abnormality of the endocrine system. Sufficient SCDO:0002780 HP:0000818 Abnormality of the Endocrine System A group of abnormalities characterized by hyperglycemia and glucose intolerance. http://purl.obolibrary.org/obo/HP_0000819 Sufficient SCDO:0000367 HP:0000819 Diabetes Mellitus An abnormality of the thyroid gland. Sufficient SCDO:1000278 HP:0000820 Thyroid Abnormality Abnormality of the Thyroid Gland Deficiency of thyroid hormone. Provide source for additional info. http://purl.obolibrary.org/obo/HP_0000821 Sufficient SCDO:0000603 HP:0000821 Low T4 Underactive Thyroid Hypothyroidism The presence of chronic increased pressure in the systemic arterial system. Sufficient SCDO:0008801 HP:0000822 Hypertension Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Sufficient SCDO:0000342 HP:0000823 Delayed Development of Secondary Sex Characteristics Delayed Onset of Sexual Maturity Delayed Pubertal Development Delayed Sexual Maturation Delayed Sexual Maturity Delayed pubertal growth Pubertal Delay Delayed Puberty 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. Sufficient SCDO:0008218 HP:0000824 Growth Hormone Deficiency An abnormality of the parathyroid gland. Sufficient SCDO:1000279 HP:0000828 Abnormality of the Parathyroid Gland A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. Sufficient SCDO:0007386 HP:0000829 Decreased Parathyroid Hormone Secretion Low Parathyroid Hormone Hypoparathyroidism Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kidneys. Sufficient SCDO:0007437 HP:0000834 Adrenal Abnormalities Adrenal Abnormality Abnormality of the Adrenal Glands 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). Provide source for additional info. http://purl.obolibrary.org/obo/HP_0000836 Sufficient SCDO:0000595 HP:0000836 Overactive Thyroid Hyperthyroidism An increased concentration of insulin in the blood. Provide source for additional info. http://purl.obolibrary.org/obo/HP_0000842 Sufficient SCDO:0000587 HP:0000842 Elevated Insulin Level Hyperinsulinemia Excessive production of parathyroid hormone (PTH) by the parathyroid glands. Provide source for additional info. http://purl.obolibrary.org/obo/HP_0000843 Sufficient SCDO:0000592 HP:0000843 Elevated Blood Parathyroid Hormone Level Hyperparathyroidism Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. http://purl.obolibrary.org/obo/HP_0000855 Sufficient SCDO:0000644 HP:0000855 Body Fails to Respond to Insulin Insulin Resistance 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). http://purl.obolibrary.org/obo/HP_0000873 Sufficient SCDO:0000366 HP:0000873 Diabetes Insipidus Infrequent menses (less than 6 per year or more than 35 days between cycles). Sufficient SCDO:0003158 HP:0000876 Light or Infrequent Menstrual Periods Oligomenorrhea An abnormality of the skeletal system. Sufficient SCDO:0006301 HP:0000924 Skeletal Abnormalities Skeletal Anomalies Abnormality of the Skeletal System 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. Provide source for additional info. http://purl.obolibrary.org/obo/HP_0000938 Sufficient SCDO:0000843 HP:0000938 Decreased Bone Mineral Density Generalized Osteopenia Osteopenia 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). Provide source for additional info. http://purl.obolibrary.org/obo/HP_0000939 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. Bone pain, backache, gradual loss of height, stooped posture, fractures. Sufficient SCDO:0000844 HP:0000939 Osteoporosis An abnormality of the skin. http://purl.obolibrary.org/obo/HP_0000951 Sufficient SCDO:0008348 HP:0000951 Abnormal skin morphology Abnormal skin structure Dermatopathy Dermopathy Skin Abnormality Abnormality of the Skin Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. http://purl.obolibrary.org/obo/HP_0000952 Sufficient SCDO:0000671 HP:0000952 Icterus Yellow Skin Yellowing of the Skin Jaundice A darkening of the skin related to an increase in melanin production and deposition. http://purl.obolibrary.org/obo/HP_0000953 Sufficient SCDO:0000308 HP:0000953 Hyperpigmentation of the Skin Increased Skin Pigmentation Melanoderma Melanodermia Skin Hyperpigmentation Cutaneous Hyperpigmentation Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. Sufficient SCDO:0000309 HP:0000961 Blue Discoloration of the Skin Cyanotic Cyanosis 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. Sufficient SCDO:0000589 HP:0000962 Hyperkeratosis 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. Sufficient SCDO:0000892 HP:0000967 Petechiae An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. http://purl.obolibrary.org/obo/HP_0000969 Sufficient SCDO:0000823 HP:0000969 Dropsy Fluid Retention Hydrops Oedema Water Retention Edema Abnormally pale skin. Sufficient SCDO:0000863 HP:0000980 Pallor Any manifestation of a skin disease associated with the production of pus. Sufficient SCDO:0000946 HP:0000999 Pus-Filled Lesion Pyoderma A reduction of skin color related to a decrease in melanin production and deposition. Sufficient SCDO:0000601 HP:0001010 Hypopigmentation of the Skin Hypopigmented Skin Skin Hypopigmentation Hypopigmentation An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). Sufficient SCDO:0000036 HP:0001022 Achromasia Albinism Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. Sufficient SCDO:0001219 HP:0001025 Hives Urticaria 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). Sufficient SCDO:0000012 HP:0001061 Break Out Breaking Out Acne Hard, pebble-like deposits that form within the gallbladder. Add here "bilirubin gallstones" (see paper "Liver involvement in sickle cell disease" by Emel GÜRKAN et al.). in HP these are called "Pigment Gallstones". http://purl.obolibrary.org/obo/HP_0001081 Sufficient SCDO:0007091 HP:0001081 Gallstones Cholelithiasis An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. Sufficient SCDO:1000262 HP:0001197 Abnormality of Prenatal Development or Birth 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. Provide source for additional info. http://purl.obolibrary.org/obo/HP_0001250 Sufficient SCDO:0001030 HP:0001250 Seizures Seizure A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating. Sufficient SCDO:0003089 HP:0001254 Lethargy 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. - 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 Sufficient SCDO:0000403 HP:0001260 Difficulty Articulating Speech Dysarthric Speech Dysarthria Reduction of neurologic reflexes such as the knee-jerk reaction. Sufficient SCDO:0000602 HP:0001265 Decreased Reflex Response Decreased Reflexes Hyporeflexia 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. http://purl.obolibrary.org/obo/HP_0001269 Sufficient SCDO:0008272 HP:0001269 Weakness of One Side of Body Hemiparesis A generalized disorder of peripheral nerves. http://purl.obolibrary.org/obo/HP_0001271 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. 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. Sufficient SCDO:0000914 HP:0001271 Peripheral Nerve Disease Polyneuropathy 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. http://purl.obolibrary.org/obo/HP_0001279 Sufficient SCDO:0008553 HP:0001279 Fainting Spell Syncope Inflammation of the meninges. Sufficient SCDO:0000744 HP:0001287 Meningitis Lack of clarity and coherence of thought, perception, understanding, or action. -- Perhaps move below "Behavioral Abnormality"? Sufficient SCDO:0000273 HP:0001289 Confusion A term that means brain disease, damage, or malfunction. In general, it is manifested by an altered mental state. -- Provide source for additional info. -- -- Specify which Blood Tests and Which Imaging Tests are used to diagnose. Sufficient SCDO:0000429 HP:0001298 Encephalopathy Hemorrhage into the parenchyma of the brain. http://purl.obolibrary.org/obo/HP_0001342 Sufficient SCDO:0000209 HP:0001342 Bleeding in Brain Hemorrhagic Stroke Intracerebral Bleeding Intracerebral Hemorrhage Cerebral Hemorrhage 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. Sufficient SCDO:0000673 HP:0001343 Kernicterus Inflammation of a joint. http://purl.obolibrary.org/obo/HP_0001369 Any age Infection (bacteria), ischemia, joint injury (trauma, surgery), degeneration. Joint pain, joint swelling, stiffness, lack of function. Sufficient SCDO:0000075 HP:0001369 Joint Inflammation Arthritis 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. Provide source for additional info. http://purl.obolibrary.org/obo/MP_0003561 Sufficient SCDO:0001011 HP:0001370 Osteoarthrosis Deformans RA Rheumatoid Arthritis 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. http://purl.obolibrary.org/obo/HP_0001371 Sufficient SCDO:0001324 HP:0001371 Flexion Contractures Flexion Contractures of Joints Joint Contracture Joint Contractures Flexion Contracture The ability of a joint to move beyond its normal range of motion. Provide source for additional info. http://purl.obolibrary.org/obo/HP_0001382 Sufficient SCDO:0000672 HP:0001382 Double-Jointed Hyperextensible Joints Increased Mobility of Joints Joint Hyperextensibility Joint Hypermobility An abnormality of the liver. Sufficient SCDO:1000272 HP:0001392 Complication of the Liver Liver Abnormality Liver Complication Abnormality of the Liver 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. Sufficient SCDO:0001488 HP:0001394 Hepatic Cirrhosis Scar Tissue Replaces Healthy Tissue in the Liver Cirrhosis The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. Sufficient SCDO:0001493 HP:0001395 Hepatic Fibrosis Impairment of bile flow due to obstruction in the small bile ducts within the liver. Is managed by: analgesia, hydration, antibiotics, and in severe cases exchange transfusion may be needed. http://purl.obolibrary.org/obo/HP_0001406 Sufficient SCDO:0009774 HP:0001406 Intrahepatic Cholestasis Simultaneous enlargement of the liver and spleen. Sufficient SCDO:0007326 HP:0001433 Hepatosplenomegaly Abnormality of growth. Sufficient SCDO:1000271 HP:0001507 Abnormal Growth Growth Issue Growth Abnormality Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Sufficient SCDO:0002729 HP:0001508 FTT Faltering Weight Poor Weight Gain Postnatal Failure to Thrive Undergrowth Weight Faltering Failure to Thrive An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Provide source for additional info. http://purl.obolibrary.org/obo/HP_0001511 Sufficient SCDO:0000658 HP:0001511 IUGR Intrauterine Growth Retardation Prenatal Growth Retardation Prenatal-Onset Growth Retardation Small for Gestational Age Infant Intrauterine Growth Restriction 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. http://purl.obolibrary.org/obo/HP_0001513 Sufficient SCDO:0000816 HP:0001513 Having too much body fat Obesity An abnormality of the integument, which consists of the skin and the superficial fascia. Sufficient SCDO:1000274 HP:0001574 Abnormality of the Integument The birth of a baby of less than 37 weeks of gestational age. Provide source for additional info. http://purl.obolibrary.org/obo/HP_0001622 Sufficient SCDO:0000920 HP:0001622 Premature Birth Premature Delivery Premature Delivery of Affected Infants Preterm Birth Preterm Delivery Any abnormality of the cardiovascular system. http://purl.obolibrary.org/obo/HP_0001626 Sufficient SCDO:0002245 HP:0001626 Abnormality of the Cardiovascular System Cardiovascular Abnormality Abnormality of Cardiovascular System 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. Sufficient SCDO:0004877 HP:0001635 CHF Cardiac Insufficiency, Congestive Heart Failure Heart Failure Cardiac Failure Increased size of the heart. http://purl.obolibrary.org/obo/HP_0001640 Sufficient SCDO:0008273 HP:0001640 Enlarged Heart Increased Heart Size Cardiomegaly 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. http://purl.obolibrary.org/obo/HP_0001658 Sufficient SCDO:0007991 HP:0001658 Myocardial Infarction Inflammation of the sac-like covering around the heart (pericardium). Sufficient SCDO:0003765 HP:0001701 Pericarditis Enlargement or increased size of the heart left ventricle. Sufficient SCDO:0002803 HP:0001712 Heart Left Ventricle Hypertrophy Left Ventricular Wall Hypertrophy Left Ventricular Hypertrophy 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. http://purl.obolibrary.org/obo/HP_0001714 Sufficient SCDO:0001231 HP:0001714 Ventricular Hypertrophy An abnormality of the spleen. Sufficient SCDO:1000370 HP:0001743 Abnormality of the Spleen Abnormal increased size of the spleen. http://purl.obolibrary.org/obo/HP_0001744 Sufficient SCDO:0005287 HP:0001744 Increased Spleen Size Results from splenic sequestration Splenomegaly An abnormality of the birth process. Sufficient SCDO:1000372 HP:0001787 Abnormal Delivery The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. http://purl.obolibrary.org/obo/HP_0001789 Sufficient SCDO:0000578 HP:0001789 Hydrops Fetalis An abnormality of the hematopoietic system. Sufficient SCDO:1000264 HP:0001871 Abnormality of the Hematopoietic System Hematological Abnormality Hematopoietic System Abnormality Abnormality of Blood and Blood-Forming Tissues An abnormality of platelets. Platelets, also known as thrombocytes, are non-nucleated disk-shaped cells mainly involved in blood coagulation. Sufficient SCDO:1000616 HP:0001872 Platelet Abnormalities Abnormal Thrombocyte Morphology A reduction in the number of circulating thrombocytes. Sufficient SCDO:0002700 HP:0001873 Thrombocytopenia A neutrophil abnormality. Sufficient SCDO:1000440 HP:0001874 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. Abnormality of Neutrophils An abnormally low number of neutrophils in the peripheral blood. Sufficient SCDO:0009334 HP:0001875 Decreased Neutrophil Count Low Blood Neutrophil Count Low Neutrophil Count Peripheral Neutropenia Neutropenia Any structural abnormality of erythrocytes (red-blood cells). Sufficient SCDO:1000285 HP:0001877 Abnormal Erythrocyte Morphology A type of anemia caused by premature destruction of red blood cells (hemolysis). http://purl.obolibrary.org/obo/HP_0001878 Sufficient SCDO:0003844 HP:0001878 Hemolytic Anemia An abnormal decreased number of leukocytes in the blood. Sufficient SCDO:1000614 HP:0001882 Decreased Blood Leukocyte Number Low White Blood Cell Count Leukopenia Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts). http://purl.obolibrary.org/obo/HP_0001889 Sufficient SCDO:0005864 HP:0001889 Megaloblastic Anemia 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. Sufficient SCDO:1000618 HP:0001894 Increased Number of Platelets in Blood Increased Platelet Count Thrombocytosis A reduced number of reticulocytes in the peripheral blood. Sufficient SCDO:0001423 HP:0001896 Low Reticulocyte Count Reduced Number of Reticulocytes Reduced Reticulocyte Count Reticulocytopenia A reduction in erythrocytes volume or hemoglobin concentration. http://purl.obolibrary.org/obo/HP_0001903 Sufficient SCDO:0005660 HP:0001903 Anemia A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. http://purl.obolibrary.org/obo/HP_0001909 Sufficient SCDO:0000687 HP:0001909 Blood Cancer Leukaemia Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). Further work Provide source for additional info. There is conflicting positioning of this term in different ontologies. Need an expert to decide descriptions and positioning of this and related terms. http://purl.obolibrary.org/obo/HP_0001919 Sufficient SCDO:0000017 HP:0001919 Acute Kidney Failure Acute Renal Failure 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. Acute Kidney Injury The presence of stenosis of the renal artery. Provide source for additional info. 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. May be caused by atherosclerotic disease, fibromuscular dysplasia. Reduced blood flow through the renal arteries, large and branching vessels. Sufficient SCDO:0000982 HP:0001920 Narrowing of Kidney Artery RAS Renal Artery Stenosis An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Sufficient SCDO:0001272 HP:0001923 High Reticulocyte Count Increased Immature Red Blood Cells Increased Number of Immature Red Blood Cells Increased Reticulocyte Count Increased Reticulocytes Reticulocytosis A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes. Sufficient SCDO:0007371 HP:0001931 Hypochromic Anemia A kind of anemia in which the volume of the red blood cells is reduced. Sufficient SCDO:0008538 HP:0001935 In normocytic anemia, the mean corpuscular volume (MCV) is below normal limits (>80 fl in adults). Microcytic Anemia A decreased concentration of glucose in the blood. Provide source for additional info. http://purl.obolibrary.org/obo/HP_0001943 Sufficient SCDO:0000599 HP:0001943 Low Blood Sugar Hypoglycemia A type of diabetic metabolic abnormality with an accumulation of ketone bodies. http://purl.obolibrary.org/obo/HP_0001953 Sufficient SCDO:0000369 HP:0001953 Diabetic Ketosis Diabetic Ketoacidosis A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. Sufficient SCDO:0000652 HP:0001970 Tubulointerstitial Nephritis Interstitial Nephritis An abnormal increase in the number of leukocytes in the blood. Sufficient SCDO:0005790 HP:0001974 Elevated White Blood Count High White Blood Count Increased Blood Leukocyte Number Leukocytosis Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). Sufficient SCDO:1000287 HP:0001977 Abnormal Thrombosis An abnormal morphology (form) of the face or its components. Provide source for additional info. http://purl.obolibrary.org/obo/HP_0001999 Sufficient SCDO:0001314 HP:0001999 Abnormal Morphology of the Face Abnormal facial shape Dysmorphic Facial Features Unusual Facial Appearance Facial Dysmorphisms Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. http://purl.obolibrary.org/obo/HP_0002007 Sufficient SCDO:0001337 HP:0002007 Frontal Protruberance Skull Bossing Frontal Bossing Abnormally increased frequency of loose or watery bowel movements. Sufficient SCDO:0008043 HP:0002014 Diarrhoea Watery stool Diarrhea Infrequent or difficult evacuation of feces. http://purl.obolibrary.org/obo/HP_0002019 Sufficient SCDO:0003263 HP:0002019 Constipation Costiveness Dyschezia Constipation Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. http://purl.obolibrary.org/obo/HP_0002059 Sufficient SCDO:0000203 HP:0002059 Cortical Atrophy Degeneration of Cerebrum Supratentorial Atrophy Atrophy may be progressive over time. Cerebral Atrophy An abnormality of the telencephalon, which is also known as the cerebrum. http://purl.obolibrary.org/obo/HP_0002060 Sufficient SCDO:0008895 HP:0002060 Abnormal Cerebral Morphology Abnormality of the Telencephalon Abnormality of the Cerebrum 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). http://purl.obolibrary.org/obo/HP_0002067 Sufficient SCDO:0000158 HP:0002067 Slow Movements Slowness of Movements Bradykinesia 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). Sufficient SCDO:0001311 HP:0002071 Abnormality of Extrapyramidal Motor Function Extrapyramidal Dysfunction Extrapyramidal Signs Extrapyramidal Syndrome Extrapyramidal Tract Signs Extrapyramidal Symptoms Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Sufficient SCDO:0000759 HP:0002076 Intermittent Migraine Headaches Migraine Headache 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. Migraine An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. Curation completed by the SCDO curator team: Amy and Khuthala. http://purl.obolibrary.org/obo/HP_0002086 Sufficient SCDO:0004899 HP:0002086 Respiratory Abnormality Abnormality of the Respiratory System Inflammation of any part of the lung parenchyma. Sufficient SCDO:0009838 HP:0002090 Pneumonia 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. Is a symptom of acute chest syndrome http://purl.obolibrary.org/obo/HP_0002098 Sufficient SCDO:0009656 HP:0002098 Breathing Difficulties Difficulty Breathing Respiratory Difficulties Respiratory Distress Hemorrhage occurring between the arachnoid mater and the pia mater. Sufficient SCDO:0001118 HP:0002138 Subarachnoid Haemorrhage Subarachnoid hemorrhage may occur spontaneously, usually from a ruptured cerebral aneurysm, or may result from head injury. Subarachnoid Hemorrhage An abnormally high level of uric acid in the blood. Sufficient SCDO:0000596 HP:0002149 High Blood Uric Acid Level Hyperuricaemia Hyperuricemia An increased concentration of nitrogen compounds in the blood. 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. Sufficient SCDO:0000093 HP:0002157 Azotemia Azotaemia The presence of developmental dysplasia of the nail. Sufficient SCDO:0000830 HP:0002164 Dysplastic Nails Onychodysplasia Nail Dysplasia Hemorrhage occurring within the skull. Sufficient SCDO:0000654 HP:0002170 Intracranial Hemorrhage Abnormal accumulation of fluid in the brain. Provide source for additional info. http://purl.obolibrary.org/obo/HP_0002181 Sufficient SCDO:0000207 HP:0002181 Brain Edema Brain Oedema Cerebral Oedema Cerebral Edema 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. Sufficient SCDO:0007912 HP:0002204 Blood Clot in Artery of Lung Pulmonary Embolism Abnormally increased size of the liver. Sufficient SCDO:0005566 HP:0002240 Hepatomegaly 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. http://purl.obolibrary.org/obo/HP_0002341 Sufficient SCDO:0000214 HP:0002341 Cervical Cord Compression Myelopathy Cervical Spondylotic Myelopathy Spinal Cord Compression Cervical Cord Compression Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it. 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 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). Experience difficulties with understanding or expressing language. Sufficient SCDO:0000773 HP:0002427 Broca's Aphasia Expressive Aphasia Loss of Expressive Speech Motor Aphasia An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. http://purl.obolibrary.org/obo/HP_0002516 Sufficient SCDO:0000655 HP:0002516 Increased Intracranial Pressure Intracranial Pressure Elevation Rise in Pressure Inside Skull Intracranial Hypertension An abnormality of the vasculature. Sufficient SCDO:1000373 HP:0002597 Abnormality of the Vasculature The presence of an abnormal lateral curvature of the spine. Provide source for additional info. http://purl.obolibrary.org/obo/HP_0002650 Congenital vertebral anomalies, idiopathic, result of a neuromuscular condition. Spinal tortuosity. Sufficient SCDO:0001026 HP:0002650 Abnormal Curving of the Spine Scoliosis An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Provide source for additional info. http://purl.obolibrary.org/obo/HP_0002653 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. 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 Sufficient SCDO:0000154 HP:0002653 Bone Pain 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. Provide source for additional info. http://purl.obolibrary.org/obo/HP_0002659 Sufficient SCDO:0000153 HP:0002659 Abnormal Susceptibility to Fractures Frequent Broken Bones Increased Bone Fragility Increased Susceptibility to Fractures Increased Tendency to Fractures Bone Fragility A cancer originating in lymphocytes and presenting as a solid tumor of lymphoid cells. http://purl.obolibrary.org/obo/HP_0002665 Sufficient SCDO:0000707 HP:0002665 Cancer of Lymphatic System Lymphoma An abnormality of the immune system. Include as sub-class: Acquired Immunodeficiency Syndrome (term in NCIT) Sufficient SCDO:1000273 HP:0002715 Abnormality of the Immune System A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. http://purl.obolibrary.org/obo/HP_0002725 Sufficient SCDO:0001137 HP:0002725 Systemic Lupus Erythematosus Exaggerated anterior convexity of the thoracic vertebral column. http://purl.obolibrary.org/obo/HP_0002808 Sufficient SCDO:0000679 HP:0002808 Gibbus Deformity Hunched Back Hyperkyphosis Round Back Kyphosis Joint pain. Provide source for additional info. http://purl.obolibrary.org/obo/HP_0002829 Sufficient SCDO:0000074 HP:0002829 Arthralgias Joint pain Arthralgia 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. http://purl.obolibrary.org/obo/HP_0002870 Sufficient SCDO:0000820 HP:0002870 Obstructive Sleep Apnoea Obstructive Sleep Apnea Microscopic hematuria detected by dipstick or microscopic examination of the urine. http://purl.obolibrary.org/obo/HP_0002907 Sufficient SCDO:0004833 HP:0002907 Microhematuria Occult Hematuria Small Amount of Blood in Urine Microscopic Hematuria Presence of myoglobin in the urine. Sufficient SCDO:0000783 HP:0002913 Increased Urine Myoglobin Level Myoglobinuria Any disease characterized by the formation of numerous granulomas. Source needed for additional information. http://purl.obolibrary.org/obo/HP_0002955 Sufficient SCDO:0000464 HP:0002955 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. Granulomatosis An elevated lipid concentration in the blood. http://purl.obolibrary.org/obo/HP_0003077 Sufficient SCDO:0000590 HP:0003077 Elevated Lipids in Blood Hyperlipidemia An abnormality of the composition of urine or the levels of its components. Sufficient SCDO:1000651 HP:0003110 Abnormal Urine Chemistry Abnormality of Urine Homeostasis Abnormal Urine Homeostasis An abnormality detectable by sonography of the heart (echocardiography). Sufficient SCDO:1000267 HP:0003116 Abnormal ECG Abnormal Echocardiography Abnormal Echocardiogram Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD). http://purl.obolibrary.org/obo/HP_0003126 Sufficient SCDO:0001196 HP:0003126 Low-Molecular-Weight Proteinuria Tubular Proteinuria Abnormally increased serum levels of alkaline phosphatase activity. Sufficient SCDO:1000664 HP:0003155 Blood Alkaline Phosphatase Increased Decreased Circulating Alkaline Phosphatase Level Elevated ALP Elevated Alkaline Phosphatase High Serum Alkaline Phosphatase Increased Alkaline Phosphatase Reduced Circulating ALP Elevated Serum Alkaline Phosphatase An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine. Could this be a synonym for 'Impaired Urinary Concentration' (SCDO:0000621)? http://purl.obolibrary.org/obo/HP_0003158 Sufficient SCDO:0008046 HP:0003158 Urine specific gravity is lower than that of plasma < 1.008. Hyposthenuria A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Provide source for additional info. http://purl.obolibrary.org/obo/HP_0003198 Sufficient SCDO:0000784 HP:0003198 Muscle Tissue Disease Myopathic Changes Myopathies Myopathy A type of hyperbilirubinemia with neonatal onset. Sufficient SCDO:0003776 HP:0003265 High Blood Bilirubin Levels in Neonate Neonatal Hyperbilirubinemia Abnormally reduced serum levels of alkaline phosphatase. Sufficient SCDO:1000667 HP:0003282 Low ALP Low Alkaline Phosphatase Reduced Serum Alkaline Phosphatase Decreased Serum Alkaline Phosphatase Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra. Provide source for additional info. http://purl.obolibrary.org/obo/HP_0003302 Spondylolysis, arthritis, degeneration, trauma, metastases or metabolic bone disease, congenital. Sufficient SCDO:0001102 HP:0003302 Displacement of One Backbone Compared to Another Slipped Backbone Spondylolithesis Spondylolisthesis Sudden and involuntary contractions of one or more muscles. Sufficient SCDO:0000778 HP:0003394 Muscle Spasm Muscle Cramps An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Provide source for additional info. muscle strain, trauma, surgery, fracture, osteoporosis, fibromialgia, spinal disc herniation. Pain in the lower back. Sufficient SCDO:0000095 HP:0003418 Back Pain Abnormal results of investigations using electromyography (EMG). Sufficient SCDO:0000428 HP:0003457 Abnormal EMG Abnormal Electromyography (EMG). Abnormal Electromyography Finding EMG Abnormalities Electromyogram Abnormal EMG Abnormality 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. Provide source for additional info. http://purl.obolibrary.org/obo/HP_0003470 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. 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. Sufficient SCDO:0000865 HP:0003470 Inability to Move Paralysis 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. Sufficient SCDO:0000703 HP:0003563 Decreased Circulating Low-Density Lipoprotein Levels Decreased LDL Decreased LDL Cholesterol Concentration Decreased LDL Cholesterol Level Decreased LDLc Concentration Low Circulating LDL Cholesterol Level Low LDL-Cholestrol Levels Reduced Circulating LDL Cholesterol Level Decreased Circulating LDL Cholesterol Level Increased concentration of total (conjugated and unconjugated) bilirubin in the blood. Sufficient SCDO:1000681 HP:0003573 High Bili Total High Total Bilirubin Increased Bilirubin Increased Total Bilirubin Anomalous concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the blood. Provide source for additional info. http://purl.obolibrary.org/obo/MP_0003949 Sufficient SCDO:0000404 HP:0003611 Abnormal Circulating Lipid Concentration Abnormal Circulating Lipid Level Dyslipidaemia Dyslipidemia The presence of free hemoglobin in the urine. Sufficient SCDO:0000554 HP:0003641 Increased Urine Hemoglobin Level If, following hemolysis, haptoglobins (hemoglobin-binding proteins) are saturated, then free hemoglobin appears in the urine. Hemoglobinuria A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). Sufficient SCDO:0000936 HP:0003765 Psoriasiform Dermatitis Psoriasis 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. Check and show which source was used for the description and whether the description was adapted from the source. -- Provide source for additional info. Variable 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. Elevated serum creatinine, uremia, acidosis, hyperkalemia, hyperphosphatemia, secondary hyperpararthyroidism, anemia, hypertension, fluid retention. Sufficient SCDO:0000430 HP:0003774 ESKD ESRD End Stage Renal Disease End Stage Renal Disease (ESRD) End Stage Renal Failure End-Stage Renal Disease End-Stage Renal Failure Stage 5 Chronic Kidney Disease End Stage Kidney Disease A reticulocyte abnormality. Sufficient SCDO:1000265 HP:0004312 Abnormality of Reticulocytes Any deviation from the normal concentration of a nitrogen compound in the blood circulation. Sufficient SCDO:1000647 HP:0004364 Abnormal Circulating Nitrogen Compound Concentration An abnormality of alkaline phosphatase level. Sufficient SCDO:1000666 HP:0004379 Abnormality Alkaline Phosphatase Level Abnormality of ALP Level Abnormality of Alkaline Phosphatase Activity Alkaline Phosphatase Abnormal 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. Abnormality of Alkaline Phosphatase Level The presence of abnormally shaped erythrocytes. Sufficient SCDO:1000245 HP:0004447 Poikilocytosis Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward. Sufficient SCDO:0000118 HP:0004586 Biconcave Vertebrae Fish Mouth Deformity Fish Vertebrae Step Vertebrae Biconcave Vertebral Bodies A defect in the ability to concentrate the urine. http://purl.obolibrary.org/obo/HP_0004727 Notable within the first decade of life. Can be caused by tubular damage in the kidney; can be seen in sickle cell disease and sickle cell trait. Sufficient SCDO:0000621 HP:0004727 UCD Urine Concentrating Defect Urine Concentration Defect Impaired Renal Concentrating Ability A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms). Sufficient SCDO:0003769 HP:0004756 VT 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. Ventricular Tachycardia An abnormal increase in the binding affinity of hemoglobin for oxygen. Sufficient SCDO:1000248 HP:0004825 Increased Haemoglobin Oxygen Affinity Increased Hemoglobin Oxygen Affinity A chronic form of hemolytic anemia. http://purl.obolibrary.org/obo/HP_0004870 Sufficient SCDO:0001248 HP:0004870 Chronic Hemolytic Anemia 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. http://purl.obolibrary.org/obo/HP_0005162 Sufficient SCDO:0002710 HP:0005162 Impaired Left Ventricular Function Left Ventricular Failure Left Ventricular Impairment Left-Sided Heart Failure Left Ventricular Dysfunction 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. Sufficient SCDO:0001103 HP:0005268 Miscarriage Spontaneous Abortion Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow. Add "Cerebral Venous Sinus Thrombosis" (in the Stroke Ontology) as a sub-class http://purl.obolibrary.org/obo/HP_0005305 Sufficient SCDO:0000211 HP:0005305 Blood Clot in Cerebral Vein Cerebral Thrombosis Cerebral Vein Thrombosis Cerebral Venous Thrombosis Inflammation of the blood vessels within the brain. http://purl.obolibrary.org/obo/HP_0005318 Sufficient SCDO:0000210 HP:0005318 Cerebral Vasculitis 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. Sufficient SCDO:1000626 HP:0005518 Erythrocyte Macrocytosis High MCV Increased MCV Increased Mean Corpuscular Volume 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. http://purl.obolibrary.org/obo/HP_0005560 Sufficient SCDO:0001383 HP:0005560 Imbalanced Hemoglobin Synthesis A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves. Check and show which source was used for the description and whether the description was adapted from the source. -- Provide source for additional info. Sufficient SCDO:0000099 HP:0006689 Infective Endocarditis Bacterial Endocarditis 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. http://purl.obolibrary.org/obo/HP_0007018 Sufficient SCDO:0000090 HP:0007018 ADHD Attention Deficit Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder Attention Deficits Childhood Attention Deficit/Hyperactivity Disorder Attention Deficit Hyperactivity Disorder Weakness of the muscles of the legs. Sufficient SCDO:0000686 HP:0007340 Hind Limb Weakness Hindlimb Weakness Leg Weakness Lower Extremity Weakness Lower Limb Muscle Weakness Lower Limb Weakness Muscle Weakness in Lower Limbs Inability to perform rapid, alternating movements. Leg Weakness Bleeding within the vitreous compartment of the eye. Sufficient SCDO:0001238 HP:0007902 Hemorrage Within the Vitreous Humor Vitreous Haemorrhage Vitreous Hemorrhage A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion. Provide source for additional info. http://purl.obolibrary.org/obo/HP_0008245 Sufficient SCDO:0001028 HP:0008245 TSH Deficient Hypothyroidism Thyroid Stimulating Hormone Deficiency Thyrotropin Deficiency Secondary Hypothyroidism 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. Sufficient SCDO:0000788 HP:0008404 Dystrophic Nails Onychodystrophy Poor nail formation Nail Dystrophy Acute death of renal tubular cells that usually results from prolonged renal ischemia, nephrotoxins, or sepsis. Provide source for additional info. Can occur at any age. The clinical course of acute tubular necrosis may be divided into initiation, maintenance, and recovery phases. 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. Loss of kidney function, reduced urine output, elevated serum creatinine. Sufficient SCDO:0000020 HP:0008682 ATN Renal Tubular Necrosis Acute Tubular Necrosis Rhabdomyolysis induced by exercise. http://purl.obolibrary.org/obo/HP_0009045 Sufficient SCDO:0001308 HP:0009045 Rhabdomyolysis with Exercise Exercise-Induced Rhabdomyolysis Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. http://purl.obolibrary.org/obo/HP_0009830 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. Sufficient SCDO:0000884 HP:0009830 Peripheral Nerve Damage Peripheral Neuritis Peripheral Neuropathy 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. - Provide source for additional info. Sufficient SCDO:0001315 HP:0010628 Bell's Palsy Cranial Nerve VII Palsy Facial Muscle Weakness of Muscles Innervated by CN VII Facial Nerve Paralysis Facial Palsy Facial Paralysis Seventh Cranial Nerve Palsy VIIth Cranial Nerve Palsy Facial Nerve Palsy An abnormal level of a circulating protein in the blood. Sufficient SCDO:1000438 HP:0010876 Abnormality of Circulating Protein Level Blood Protein Disease Serum Protein Abnormality Abnormal Circulating Protein Level A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. 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. Sufficient SCDO:0000841 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0029445 HP:0010885 AVN Aseptic Bone Necrosis Aseptic necrosis Avascular Bone Necrosis Avascular Necrosis Avascular Necrosis (AVN) Bone Infarction Bone Infarcts Bone Necrosis Ischemic Bone Necrosis Osteochondronecrosis 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. Osteonecrosis 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. Provide source for additional info. http://purl.obolibrary.org/obo/HP_0011001 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. An increased whiteness (density) of affected bones. Sufficient SCDO:0000629 HP:0011001 Bone Sclerosis Increased Bone Density Osteosclerosis Osteosclerosis of Bones Increased Bone Mineral Density The age group in which disease manifestations appear. http://purl.obolibrary.org/obo/HP_0011007 Sufficient SCDO:0003913 HP:0011007 Age of Onset Abnormality of glucose homeostasis. Sufficient SCDO:1000283 HP:0011014 Abnormal Glucose Homeostasis Abnormal functionality of the cardiovascular system. Sufficient SCDO:1000368 HP:0011025 Abnormal Cardiovascular System Physiology A decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood. Sufficient SCDO:0003035 HP:0011106 Depleted Blood Volume Hypovolemia Any morphological abnormality of the skin. Sufficient SCDO:1000374 HP:0011121 Abnormality of Skin Morphology Any abnormality of the physiological function of the skin. Sufficient SCDO:1000375 HP:0011122 Abnormality of Skin Physiology 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. Sufficient SCDO:0001071 HP:0011123 Abnormal Tendency to Infections of the Skin Dermatitis Inflammatory Abnormality of the Skin Inflammatory Skin Disease Maculopapular Rash Skin Inflammation Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy). http://purl.obolibrary.org/obo/HP_0011410 Sufficient SCDO:0000168 HP:0011410 Caesarian Section Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex. Sufficient SCDO:0001045 HP:0011413 Shoulder Dystocia 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. http://purl.obolibrary.org/obo/HP_0011675 Sufficient SCDO:0009619 HP:0011675 Abnormal Heart Rate Abnormality of Cardiac Conduction Arrhythmias Cardiac Arrhythmia Cardiac Arrhythmias Cardiac Conduction Abnormalities Cardiac Conduction Defects Cardiac Rhythm Disturbances Heart Rhythm Disorders Irregular Heart Beat Irregular Heartbeat Arrhythmia Hemorrhage into the parenchyma of the cerebellum. Need to include this term mentioned here to the SCDO: -- obstructive hydrocephalus Sufficient SCDO:0000201 HP:0011695 Cerebellar Hemorrhage 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. http://purl.obolibrary.org/obo/HP_0011856 Sufficient SCDO:0000904 HP:0011856 Pica Pain in the lower back and hip radiating in the distribution of the sciatic nerve. Provide source for additional info. Terms to add to therapeutics for linking via "is treated with" obj property: Local heat, acupuncture, physical therapy, surgery http://purl.obolibrary.org/obo/HP_0011868 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. Sufficient SCDO:0001024 HP:0011868 Sciatica 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. Sufficient SCDO:1000617 HP:0011873 Abnormal Platelet Count Bleeding in the anterior chamber of the eye. http://purl.obolibrary.org/obo/HP_0011886 Sufficient SCDO:0000597 HP:0011886 Hyphema Number of leukocytes per volume of blood beyond normal limits. Sufficient SCDO:1000613 HP:0011893 Abnormal White Blood Cell Count Abnormal Leukocyte Count Increased number of neutrophils circulating in blood. Sufficient SCDO:1000447 HP:0011897 Neutrophilia 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. http://purl.obolibrary.org/obo/HP_0011904 Sufficient SCDO:0000888 HP:0011904 Increased Haemoglobin F Persistence of Hemoglobin F Raised Hemoglobin F Increased Hemoglobin F 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. http://purl.obolibrary.org/obo/HP_0011906 Sufficient SCDO:0001709 HP:0011906 Increased Alpha/Beta Synthesis Ratio Reduced Beta/Alpha Synthesis Ratio 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. http://purl.obolibrary.org/obo/HP_0011907 Sufficient SCDO:0006404 HP:0011907 Increased Beta/Alpha Synthesis Ratio Reduced Alpha/Beta Synthesis Ratio Inflammation of the bronchioles. http://purl.obolibrary.org/obo/HP_0011950 Sufficient SCDO:0005490 HP:0011950 Bronchiolitis A deviation from the normal range of neutrophil cell counts in the circulation. Sufficient SCDO:1000446 HP:0011991 Abnormal Neutrophil Cell Number Abnormal Neutrophil Count An abnormal concentration of creatinine in the blood. Sufficient SCDO:1000541 HP:0012100 Abnormal Blood Creatinine Level Abnormal Serum Creatinine Level Creatinine Levels Abnormal Abnormal Circulating Creatinine Level An abnormally reduced amount of creatinine in the blood. Sufficient SCDO:1000648 HP:0012101 Low Blood Creatinine Low Serum Creatinine Reduced Creatinine Levels Decreased Serum Creatinine A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split. Sufficient SCDO:0000831 Medscape: Onychomycosis: Author: Antonella Tosti, MD; Chief Editor: Dirk M Elston, MD et al.. HP:0012203 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. Onychomycosis An increased white blood cell count in the cerebrospinal fluid. http://purl.obolibrary.org/obo/HP_0012229 Sufficient SCDO:0000212 HP:0012229 CSF Pleocytosis Increased Leukocyte Count in CSF Cerebrospinal Fluid Pleocytosis A structural or developmental anomaly of any of the tissues involved in the genital system. Sufficient SCDO:0009817 HP:0012243 Abnormal Genital System Morphology Abnormal Reproductive System Morphology 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. Sufficient SCDO:0000770 HP:0012282 A morbilliform rash is said to resemble the rash of measles, rubella or scarlet fever, thus mimicking viral and bacterial exanthemas. Morbilliform Rash An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. http://purl.obolibrary.org/obo/HP_0012330 Sufficient SCDO:0005758 HP:0012330 Pyelonephritis An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme. Sufficient SCDO:1000665 HP:0012379 Abnormal Enzyme/Coenzyme Activity An abnormally low level of blood oxygen. http://purl.obolibrary.org/obo/HP_0012418 Sufficient SCDO:0000604 HP:0012418 Decreased Partial Pressure of Oxygen Low Blood Oxygen Level Hypoxemia Partial or complete wasting (loss) of brain tissue that was once present. Sufficient SCDO:0000089 HP:0012444 Brain Atrophy Brain Degeneration Brain Wasting Atrophic Brain An increased level of iron in liver tissues. http://purl.obolibrary.org/obo/HP_0012465 Sufficient SCDO:0000425 HP:0012465 Increased Iron Concentration in Liver Increased Liver Iron Level This abnormality can be measured by liver biopsy or by hepatic magnetic resonance imaging. Equivalents Elevated Hepatic Iron Concentration Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months. Sufficient SCDO:0001415 HP:0012532 Long-Lasting Pain Chronic Pain Increased numbers of mesangial cells per glomerulus, defined as four or more nuclei in a peripheral mesangial segment. Sufficient SCDO:0006481 HP:0012574 Mesangial Proliferation Mesangial Hypercellularity Hematuria that is visible upon inspection of the urine. http://purl.obolibrary.org/obo/HP_0012587 Sufficient SCDO:0008145 HP:0012587 Bloody Urine Gross Hematuria Macroscopic Hematuria The presence of mildly increased concentrations of albumin in the urine (in adults, 30-150 mg per day). http://patient.info/doctor/microalbuminuria Sufficient SCDO:0000764 Chronic kidney disease: early identification and management of chronic kidney disease in adults in primary and secondary care; NICE Clinical Guidelines (July 2014) HP:0012594 Micro-albuminuria Microalbuminuria Mildly Increased Albuminuria Moderately Increased Albuminuria 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. Low Level Albuminuria A functional anomaly of the nervous system. Sufficient SCDO:1000765 HP:0012638 Abnormality of Nervous System Physiology Abnormal Nervous System Physiology A structural anomaly of the nervous system. Sufficient SCDO:1000764 HP:0012639 Abnormal Shape of Nervous System Abnormality of Nervous System Morphology Abnormal Nervous System Morphology A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Sufficient SCDO:0004069 HP:0012735 Cough 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. http://purl.obolibrary.org/obo/HP_0012759 Sufficient SCDO:0000800 HP:0012759 Neurodevelopmental Abnormality Inflammation of the myocardium. Sufficient SCDO:0004203 HP:0012819 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. Myocarditis Any functional abnormality of erythrocytes (red-blood cells). Sufficient SCDO:1000286 HP:0020054 Abnormal Erythrocyte Physiology Any deviation from the normal number of red blood cells per volume in the circulation. Sufficient SCDO:1000608 HP:0020058 Abnormal RBC Count Abnormal Red Blood Cell Count An abnormal elevation above the normal number of red blood cells per volume in the circulation. Sufficient SCDO:1000610 HP:0020059 Increased RBC Count Increased Red Blood Cell Count An abnormal reduction below the normal number of red blood cells per volume in the circulation. Sufficient SCDO:1000609 HP:0020060 Decreased RBC Count Decreased Red Blood Cell Count Any deviation from the normal concentration of hemoglobin in the blood. 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"? Sufficient SCDO:1000186 SCDO (Jade Hotchkiss) HP:0020061 Abnormal Hemoglobin Concentration An abnormal reduction below normal hemoglobin concentration in the circulation. Sufficient SCDO:1000377 HP:0020062 Decreased Hemoglobin Concentration An abnormal elevation above normal hemoglobin concentration in the circulation. Sufficient SCDO:1000378 HP:0020063 Increased Hemoglobin Concentration 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. 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. http://purl.obolibrary.org/obo/HP_0025031 Sufficient SCDO:0000335 HP:0025031 Abnormality of the Digestive System 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. Sufficient SCDO:1000624 HP:0025065 Abnormal Erythrocyte Volume Abnormal MCV Abnormal Mean Corpuscular Volume 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). Sufficient SCDO:1000625 HP:0025066 Decreased MCV Low MCV Microcytosis Reduced Erythrocyte Volume Decreased Mean Corpuscular Volume 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. Sufficient SCDO:1000269 HP:0025142 Systemic Symptom Constitutional Symptom An elevated level of the enzyme lactate dehydrogenase in serum. Sufficient SCDO:1000652 HP:0025435 High Lactate Dehydrogenase Level Increased Lactate Dehydrogenase Level 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. Sufficient SCDO:1000631 HP:0025546 Abnormal MCHC Abnormal Mean Cell Haemoglobin Concentration Abnormal Mean Cell Hb Concentration Abnormal Mean Cell Hemoglobin Concentration Abnormal Mean Corpuscular Haemoglobin Concentration Abnormal Mean Corpuscular Hb Concentration Abnormal Mean Corpuscular Hemoglobin Concentration 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. Sufficient SCDO:1000635 HP:0025547 Decreased MCHC Decreased Mean Corpuscular Haemoglobin Concentration Low MCHC Low Mean Corpuscular Haemoglobin Concentration Low Mean Corpuscular Hemoglobin Concentration Reduced Mean Corpuscular Haemoglobin Concentration Reduced Mean Corpuscular Hemoglobin Concentration Decreased Mean Corpuscular Hemoglobin Concentration 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. Sufficient SCDO:1000636 HP:0025548 High MCHC High Mean Corpuscular Haemoglobin Concentration High Mean Corpuscular Hemoglobin Concentration Increased MCHC Increased Mean Corpuscular Haemoglobin Concentration Increased Mean Corpuscular Hemoglobin Concentration Inflammation of the inner lining of the uterus Local accumulation of fluid, plasma proteins, and leukocytes in the endometrium. Provide source for additional info. http://purl.obolibrary.org/obo/MP_0009360 Sufficient SCDO:0000433 HP:0025636 Endometrial Inflammation Endometrium Inflammation Endometritis A collection of pus, immune cells, and other material in the brain. http://purl.obolibrary.org/obo/HP_0030049 Sufficient SCDO:0000159 HP:0030049 Brain abscess usually results from a bacterial or fungal infection. Brain Abscess 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. Sufficient SCDO:0000790 HP:0030050 Narcolepsy 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). Sufficient SCDO:1000246 HP:0030058 Banana Cell Drepanocyte Sickle Cell Sickled Erythrocyte Sickled Red Blood Cell Sickled Erythrocyte The growth of endometrial tissue outside the uterus. Provide source for additional info. http://purl.obolibrary.org/obo/HP_0030127 Sufficient SCDO:0000432 HP:0030127 Endometriosis An obstruction in the veins of the liver caused by a blood clot (thrombosis). http://purl.obolibrary.org/obo/HP_0030243 Sufficient SCDO:0001673 HP:0030243 Blood Clot in Liver Vein Hepatic Vein Thrombosis Blood Clot in Liver Vein 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). Sufficient SCDO:0004437 HP:0030248 Blood Clot in Mesenteric Vein Mesenteric Venous Thrombosis Any structural anomaly of the heart and great vessels. Sufficient SCDO:1000369 HP:0030680 Abnormal Cardiovascular System Morphology A hole (perforation) in the wall of the intestine. Sufficient SCDO:1000434 HP:0031368 Intestinal Perforation A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube). Sufficient SCDO:0000413 HP:0031456 Ectopic Pregnancy An abnormally high concentration in the circulation of aspartate aminotransferase (AST). Sufficient SCDO:1000661 HP:0031956 Aspartate Aminotransferase Increased Elevated Serum AST Elevated Serum Glutamic Oxaloacetic Transaminase Increased Aspartate Aminotransferase Elevated Serum Aspartate Aminotransferase 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. Sufficient SCDO:1000659 HP:0031964 Alanine Aminotransferase Increased Elevated Serum Glutamic-Pyruvic Transaminase Elevated serum ALT Elevated Serum Alanine Aminotransferase An abnormal level of an analyte measured in the blood. Sufficient SCDO:1000437 HP:0032180 Abnormal Circulating Metabolite Concentration 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. Sufficient SCDO:1000581 HP:0032224 ABO Blood Group A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate. Sufficient SCDO:1000683 HP:0045040 Abnormal Lactate Dehydrogenase Level 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. http://purl.obolibrary.org/obo/HP_0045048 Sufficient SCDO:0000630 HP:0045048 Increased HbA2 Hemoglobin Increased Hemoglobin A2 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. Sufficient SCDO:0000411 HP:0100601 Eclampsia Pregnancy-induced hypertension in association with significant amounts of protein in the urine. http://purl.obolibrary.org/obo/HP_0100602 Sufficient SCDO:0000918 HP:0100602 Pre-Eclampsia Preeclampsia A general term for inflammation of the muscles without respect to the underlying cause. Provide source for additional info. http://purl.obolibrary.org/obo/HP_0100614 Sufficient SCDO:0000785 HP:0100614 Muscle Inflammation Myositis An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. Sufficient SCDO:0001988 HP:0100749 Thoracic Pain Chest Pain Excessive growth or abnormal thickening of bone tissue. http://purl.obolibrary.org/obo/HP_0100774 Sufficient SCDO:0000591 HP:0100774 Bone Hypertrophy Bone Overgrowth Hyperostosis Severe systemic inflammatory response to infection. 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)? http://purl.obolibrary.org/obo/HP_0100806 Sufficient SCDO:0001039 HP:0100806 caused by: Bacteria and fungus mainly characterised by: Systematic manifestations of inflammation has disease stage: Mild, moderate, severe Sepsis Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. http://purl.obolibrary.org/obo/HP_0100820 Sufficient SCDO:0000459 HP:0100820 Diseased Glomeruli Glomerulopathies Glomerulopathy A discontinuity of the skin exhibiting loss of the epidermis and often portions of the dermis and subcutaneous fat. Find source for additional info http://purl.obolibrary.org/obo/HP_0200042 Sufficient SCDO:0001074 HP:0200042 Open Skin Sore Skin Ulcers Skin Ulcer Abnormal test result of cardiovascular physiology. Sufficient SCDO:1000266 HP:0500015 Abnormal Cardiac Test A date specification that designates when an informed consent form was signed. Sufficient SCDO:1000531 ICO:0000036 Date Subject Signed Consent Informed Consent Form Signing Date Date of Signing Consent 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. Sufficient SCDO:0009293 ICO:0000157 Parental Informed Consent Process Parental Permission Parental Permission Consent Parental Consent An informed consent for an unspecified range of future research subject to a few content and/or process restrictions. Sufficient SCDO:0008115 ICO:0000179 Broad Consent A planned process in which data possessed by one person or organization is shared with one or more other persons or organizations. Sufficient SCDO:0009586 ICO:0000228 Act of Data Sharing Data Sharing A directive information entity that prescribes some process for withdraw from another planned process. Sufficient SCDO:1000428 ICO:0000255 Withdrawal from Participation Directive Participant Withdrawal Process A descriptive information content entity that describes how biospecimens will be used. Sufficient SCDO:1000456 ICO:0000278 Description of Future Biospecimen Use A directive information entity that prescribes the information that is permitted to be shared or the processes for sharing that information. Sufficient SCDO:1000407 ICO:0000293 Data Sharing Directive Data Sharing Agreement A descriptive information content entity that describes how data will be used. Sufficient SCDO:1000453 ICO:0000304 Description of Future Data Use A descriptive information content entity that describes future use of material or information. Sufficient SCDO:1000454 ICO:0000305 Description of Future Use The use of antimalarial drugs for the prevention of infection. Sufficient SCDO:1000668 IDOMAL:0000122 Malaria Chemoprophylaxis Any process carried out to determine the condition of a patient's spleen. Needs relating to Splenomegaly phenotype. http://purl.obolibrary.org/obo/IDOMAL_0000592 Sufficient SCDO:0001101 IDOMAL:0000592 Spleen Examination A permanent change in the DNA sequence of a gene that alters the genetic message carried by that gene. 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" http://purl.obolibrary.org/obo/IDOMAL_50000026 Sufficient SCDO:0001370 IDOMAL:50000026 Mutation An organism population whose members are particpating in non-parasitic symbiosis with a particular host. http://purl.obolibrary.org/obo/IDO_0000515 Sufficient SCDO:0000755 IDO:0000515 Normal Resident Microbiota Population Normal Resident Microflora Population Microbiome A material entity bearing an antifungal disposition. http://purl.obolibrary.org/obo/IDO_0000560 Sufficient SCDO:1000019 IDO:0000560 Antifungal 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. 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.) Sufficient SCDO:0000635 IDO:0000586 Infection Focal pathological and/or inflammatory changes characterized by alteration in the size, shape and organization of the cellular components of the skin. Sufficient SCDO:0001072 MP:0001212 Skin Lesions Anomalies in the average levels of hemoglobin contained in an erythrocyte. Sufficient SCDO:1000632 MP:0001589 Abnormal MCH Abnormal Mean Cell Hemoglobin Abnormal Mean Cell Hemoglobin Level Abnormal Mean Corpuscular Hemoglobin Level Abnormal Mean Corpuscular Hemoglobin Increased volume of urine produced and excreted. Provide source for additional info. http://purl.obolibrary.org/obo/MP_0001762 Sufficient SCDO:0000395 MP:0001762 Increased Urine Output Increased Urine Volume Polyuria 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. Diuresis Reduced ability or inability to self-repair and close wounds. Sufficient SCDO:0000622 MP:0001792 Delayed Wound Healing Impaired Wound Repair Impaired Wound Healing Death anytime within the perinatal period. Sufficient SCDO:0000883 MP:0002081 Perinatal Lethality Perinatal Death Anomaly in the processes involved in the maintenance of an internal equilibrium of lipids in the fluids and tissues. Sufficient SCDO:1000284 MP:0002118 Abnormal Lipid Homeostasis Anomaly in the amount of oxygen and carbon dioxide in the blood. Sufficient SCDO:1000810 MP:0002329 Abnormal Blood Gas Level Greater likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria. http://purl.obolibrary.org/obo/MP_0002412 Sufficient SCDO:0000632 MP:0002412 Decreased Resistance to Bacterial infection Characterised by: Repeated/recurrent local or systemic bacterial infections. Caused by: Multifactorial generally factors ultimately cause impaired immunity. Increased Susceptibility to Bacterial Infection A retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses. Provide source for additional info. Usually in the elderly persons. Aging associated with most disorders Multifactorial causes such as program cell death, genetic mutations, protein misfolding and intracellular mechanisms Multiple disease entities such as alzhiemers disease, parkinsons disease , huntington's disease and amylotrophic lateral sclerosis Sufficient SCDO:0000802 http://www.neurodegenerationresearch.eu/about/what/ MP:0003224 Nerve Degeneration Nerve Degenerations Neuron Degenerations Neuron Degeneration 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. Sufficient SCDO:1000811 MP:0005376 Homeostasis Phenotype Homeostasis/Metabolism Phenotype Metabolism/Homeostasis Phenotype Greater than the level of heat natural to a living being. Sufficient SCDO:1000761 MP:0005533 Raised Body Temperature Increased Body Temperature Less than the level of heat natural to a living being. Sufficient SCDO:1000762 MP:0005534 Reduced Body Temperature Decreased Body Temperature Deviation in the level of heat natural to a living being. Sufficient SCDO:1000760 MP:0005535 Abnormal Body Temperature Greater than the average levels of hemoglobin contained in an erythrocyte. Sufficient SCDO:1000634 MP:0005561 High MCH High Mean Corpuscular Hemoglobin Increased MCH Increased Mean Cell Hemoglobin Increased Mean Corpuscular Hemoglobin Less than the average levels of hemoglobin contained in an erythrocyte. Sufficient SCDO:1000633 MP:0005562 Decreased MCH Decreased Mean Cell Hemoglobin Low MCH Low Mean Corpuscular Hemoglobin Decreased Mean Corpuscular Hemoglobin 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. Sufficient SCDO:1000277 MP:0009568 Abnormal Red Blood Cell Deformability Anomaly in the processes involved in the maintenance of an internal equilibrium of various functions or chemical or protein composition of the blood. Sufficient SCDO:1000809 MP:0009642 Abnormal Blood Chemistry Blood Chemistry Abnormalities Abnormal Blood Homeostasis An anomaly in the coefficient of variance (reference range) of the red blood cell volume for an organism. Sufficient SCDO:1000639 MP:0010066 Abnormal Erythrocyte Distribution Width Abnormal RDW Abnormal Red Blood Cell Distribution Width Higher than normal coefficient of variance (reference range) of the red blood cell volume for an organism. Sufficient SCDO:1000641 MP:0010067 High RCDW High RDW High Red Blood Cell Distribution Width Increased Erythrocyte Distribution Width Increased RCDW Increased RDW Increased Red Blood Cell Distribution Width Lower than normal coefficient of variance (reference range) of the red blood cell volume for an organism. Sufficient SCDO:1000640 MP:0010068 Decreased Erythrocyte Distribution Width Decreased RCDW Decreased RDW Low RCDW Low RDW Low Red Blood Cell Distribution Width Reduced RCDW Reduced RDW Reduced Red Blood Cell Distribution Width Decreased Red Blood Cell Distribution Width 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. Sufficient SCDO:0009017 MP:0010163 Erythrocytolysis Erythrolysis Haematolysis Haemolysis Hematolysis Hemolyses Hemolysis Any anomaly in the amount in the urine of a carboxylic acid containing one or more amino groups (-NH2) and a carboxyl (-COOH) group. Sufficient SCDO:1000653 MP:0011468 Abnormal Urine Amino Acid Level Any change in the amount of creatinine in the urine Sufficient SCDO:1000654 MP:0011469 Abnormal Urine Creatinine Level An increased amount of creatinine in the urine compared to the normal state. Sufficient SCDO:1000656 MP:0011470 Increased Urine Creatinine Level a reduced amount of creatinine in the urine compared to the normal state Sufficient SCDO:1000655 MP:0011471 Low Urine Creatinine Level Reduced Urine Creatinine Level Decreased Urine Creatinine Level 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. http://purl.obolibrary.org/obo/MP_0013305 Sufficient SCDO:0000667 MP:0013305 Impaired Urine-Concentrating Ability Urine Concentrating Defect Urine specific gravity is similar to that of plasma (1.008-1.012). Isosthenuria A drinking behavior associated with the intake of alcohol. http://purl.obolibrary.org/obo/NBO_0000131 Sufficient SCDO:0000039 NBO:0000131 Alcohol Consumption Alcohol Intake 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. http://purl.obolibrary.org/obo/NCIT_C65495 Sufficient SCDO:0006467 NCIT:65495 Cymbalta Duloxetine HCl N-methyl-3-(1-naphthalenyloxy)-3-(2-thiophene)propanamide Duloxetine An examination of the retina of the eye using an ophthalmoscope. http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C101217 Sufficient SCDO:0001009 NCIT:C101217 Fundoscopy Retinal Examination A finding indicating the presence of an inflammatory or neoplastic cellular infiltrate in the lung parenchyma. Sufficient SCDO:0007383 NCIT:C102531 Lung Infiltrate Pulmonary Infiltrate 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. Sufficient SCDO:0000871 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. 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. 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. NCIT:C102988 PROMIS Patient Reported Outcomes Measurement Information System Patient Reported Outcomes Measurement Information System (PROMIS) The kind of visit undertaken by the subject within a study, such as inpatient, outpatient, telephone, etc. Sufficient SCDO:1000852 NCIT:C103165 Subject Visit Type 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. Sufficient SCDO:0005773 International Ethical Guidelines for Health-related Research Involving Humans, Fourth Edition. Geneva. Council for International Organizations of Medical Sciences (CIOMS); 2016. NCIT:C103270 Consent Waiver Waiver Of Informed Consent 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. Waiver of Consent 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. Sufficient SCDO:0000870 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. NCIT:C103526 PHQ-9 PHQ01 Patient Health Questionnaire - 9 Item Patient Health Questionnaire-9 Patient Health Questionnaire-9 (PHQ-9) Hemoglobin that has a nitric oxide bound to the cysteine at position 93 in the beta-globin chain. Sufficient SCDO:1000169 NCIT:C107564 S-Nitrosated Hemoglobin S-Nitrosohemoglobin S-Nitroso-Hemoglobin The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal. Sufficient SCDO:0001447 NCIT:C113340 Secondary Amenorrhea 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. Sufficient SCDO:1000168 NCIT:C114300 COHb Carboxyhemoglobin COHb A severe hypersensitivity-like reaction occurring during dialysis due to exposure to the dialysis membrane. Sufficient SCDO:1000387 NCIT:C114714 Dialyzer Reaction Dialysis Membrane Reaction A crack or break in a dialysis catheter caused by material weakness or mechanical compression. Sufficient SCDO:1000386 NCIT:C114717 Dialysis Catheter Fracture Any heart or vascular disorder occurring as a consequence of injury to the cardiovascular system. Sufficient SCDO:1000390 NCIT:C115199 Cardiovascular Complication Any disorder of the liver occurring as a consequence of injury to the liver parenchyma. Sufficient SCDO:1000382 NCIT:C115224 Liver Complication Hepatic Complication Any eye disorder occurring as a consequence of injury to the eye. Sufficient SCDO:0000832 NCIT:C115319 Ophthalmologic Manifestations Ophthalmologic Complication Any issue that arises as a consequence of a problem with a patient's dialysis access. Sufficient SCDO:1000391 NCIT:C116081 Dialysis Access Complication 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. Sufficient SCDO:0003929 NCIT:C116161 MLPA Multiplex Ligation-Dependent Probe Amplification Failure to meet, or late achievement of developmental milestones. 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. Sufficient SCDO:0001293 http://www.med.umich.edu/yourchild/topics/devdel.htm NCIT:C116942 Developmental Delay Tissue death resulting from an interruption to the blood supply. 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. http://purl.obolibrary.org/obo/NCIT_C118385 Sufficient SCDO:0004832 NCIT:C118385 AVN deprecated-Avascular Necrosis true 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. Life stage: Adolescent, Adult 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. http://www.phenxtoolkit.org/index.php?pageLink=browse.protocoldetails&id=820501 PhenX protocol: Intelligence Scale - 16 to 90 years #820501 Sufficient SCDO:0000646 NCIT:C120254 WAIS-IV Wechsler Adult Intelligence Scale - Fourth Edition Wechsler Adult Intelligence Scale 4th Edition Wechsler Adult Intelligence Scale, Fourth Edition Wechsler Adult Intelligence Scale, Fourth Edition (WAIS-IV) Intelligence Scale - 16 to 90 years A battery of tests that allow an investigator to conduct a comprehensive evaluation of a child or adolescent's cognitive ability. 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. Life stage: Child, Adolescent 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. http://www.phenxtoolkit.org/index.php?pageLink=browse.protocoldetails&id=820503 PhenX protocol: Intelligence Scale - 6 to 16 years 11 months #820503 Sufficient SCDO:0000648 NCIT:C120255 WISC-V Wechsler Intelligence Scale for Children-Fifth Edition Wechsler Intelligence Scale for Children-Fifth Edition (WISC-V) Intelligence Scale - 6 to 16 years 11 months 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. Life stage: Toddler, Child 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. http://www.phenxtoolkit.org/index.php?pageLink=browse.protocoldetails&id=820502 PhenX protocol: Intelligence Scale - 2 years, 6 months to 7 years, 7 months #820502 Sufficient SCDO:0000647 NCIT:C120256 WPPSI-IV Wechsler Preschool & Primary Scale of Intelligence 4th Edition Wechsler Preschool and Primary Scale of Intelligenc-Fourth Edition Wechsler Preschool and Primary Scale of Intelligenc-Fourth Edition (WPPSI-IV) Wechsler Preschool and Primary Scale of Intelligence IV Intelligence Scale - 2 years, 6 months to 7 years, 7 months 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. Sufficient SCDO:0000645 NCIT:C122920 Intelligence Test Intelligence Scale 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. http://purl.obolibrary.org/obo/NCIT_C122931 Sufficient SCDO:0000613 NCIT:C122931 TCDi Imaging Transcranial Doppler Ultrasonography 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. http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C123446 Sufficient SCDO:0000281 NCIT:C123446 Continuous Ambulatory ECG 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 PhenX protocol: Global Mental Status Screener - Adult #130701 Sufficient SCDO:1000335 NCIT:C123667 MOCA MOCA01 Montreal Cognitive Assessment Montreal Cognitive Assessment Functional Test Montreal Cognitive Assessment Questionnaire Global Mental Status Screener - Adult 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. Described in the Tanzania guidelines as 'reduced air entry, increased tactile vocal fremitus, and dull percussion at lung bases, usually bilateral'. http://purl.obolibrary.org/obo/NCIT_C124059 Sufficient SCDO:0006222 NCIT:C124059 Air Space Opacificatio Air-Space Shadowing Airspace Consolidation Airspace Opacification Consolidation Pulmonary Consolidation A measurement of the concentration of iron in the liver as an estimate of body iron load. http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C124065 Sufficient SCDO:0000555 NCIT:C124065 Hepatic Iron Liver Iron Liver Iron Concentration Hepatic Iron Concentration A circumferential measurement of the largest part of the upper arm. http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C124475 Sufficient SCDO:0000758 NCIT:C124475 MUAC MUARMCIR Mid-Upper Arm Circumference Mid Upper Arm Circumference 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. Sufficient SCDO:1000275 NCIT:C126120 HbO2 Oxyhemoglobin Oxygenated Hemoglobin 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. Sufficient SCDO:1000057 NCIT:C126121 Deoxyhemoglobin Deoxygenated Hemoglobin An abscess within the abdomen. http://purl.obolibrary.org/obo/NCIT_C128326 Sufficient SCDO:0008079 NCIT:C128326 Intra-Abdominal Abscess 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. Sufficient SCDO:0000560 NCIT:C129072 HPFH Hereditary Persistence of Foetal Haemoglobin This is a benign condition. Hereditary Persistence of Fetal Hemoglobin 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. Sufficient SCDO:0000549 NCIT:C131682 Hb SS Disease Hb SS-Disease Hemoglobin SS Disease Homozygous Sickle Cell Disease SCA SS and S/Beta-Zero Thalassemia Severe SCD Sickle Cell Anemia Sickle Cell Disease SS Sickle Cell Hemoglobin S Disease Sickle Cell-SS Disease Sickle Cell Disease-SS 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). Sufficient SCDO:1000380 NCIT:C133543 Adakveo SEG101 SelG1 Crizanlizumab 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. http://en.wikipedia.org/wiki/Hemoglobin_Lepore_syndrome Sufficient SCDO:0000538 NCIT:C141366 Hb Lepore Hb Lepore Syndrome Homozygous Hb Lepore Homozygous Hemoglobin Lepore Hemoglobin Lepore Syndrome 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). Sufficient SCDO:1000420 NCIT:C142494 Data Storage 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. Sufficient SCDO:0009748 NCIT:C142541 Ethics Committee Human Subject Protection Committee REC Research Ethics Committee Research Ethics Committee The interval of time during which subjects are to be enrolled in a clinical study. Sufficient SCDO:1000400 NCIT:C142664 Recruitment Period 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. Sufficient SCDO:1000381 NCIT:C152089 GBT-440 GBT440 Oxbryta Is an accepted therapy for adults and pediatric patients 12 years of age and older with sickle cell disease. Voxelotor Application of genetic material (usually DNA) into cells in order to permanently correct an inherited disease or acquired disease. http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C15238 Sufficient SCDO:0001344 NCIT:C15238 DNA Therapy Gene Therapy 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. Review current sub-classes in light of and include relevant classes from "EDDA Study Designs Taxonomy" to be added as sub-classes. Sufficient SCDO:0001115 NCIT:C15320 Experiment Design Experimental Design Research Design STYPE Study Design A patient-reported outcome measurement system designed to evaluate and monitor the physical, mental, and social well-being of adults with sickle cell disease. Cross-cultural adaptation underway in Brazil. ASCQ-Me's development using modern measurement theory facilitates cross cultural adaptation. PhenX protocol: Adult Sickle Cell Quality of Life Measurement Information System (ASCQ-Me) #820201 Self Clinic Patients (Adults with SCD) Spanish; Portuguese 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). Rigor in development, using modern measurement theory and aligned with PROMIS measurement development. 18 years and older no Sufficient SCDO:0000027 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. NCIT:C154481 ASCQ-Me Adult Sickle Cell Quality of Life Measurement Information System Adult Sickle Cell Quality-of-Life Measurement Information System 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. Adult Sickle Cell Quality-of-Life Measurement Information System (ASCQ-Me) An evaluation of the perfusion of blood through the brain. Sufficient SCDO:0000204 NCIT:C154865 Cerebral Blood Flow Assessment Cerebral Blood Flow Measurement Stroke Risk Test Cerebral Blood Flow Assay 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. Sufficient SCDO:0001060 NCIT:C155310 Haemoglobin S-D Disease Hb SD-Disease Hemoglobin S-D Disease Hemoglobin Sickle D Disease Sickle Cell Disease SD Sickle Cell Hemoglobin D Disease Sickle Cell-Haemoglobin D Disease Sickle Cell-Hemoglobin D Disease Sickle Cell Disease-SD A pulmonary complication of sickle cell disease characterized by radiographic interstitial abnormalities and impaired pulmonary function. In severe cases, pulmonary hypertension is present. Restricive lung disease often associated with chest pain and hypoxemia. May also be associated with pulmonary hypertension. Sufficient SCDO:0001046 Powars et al 1988 Medicine (Baltimore), Knight-Madden et al 2010 Lung. NCIT:C155312 Sickle Cell Chronic Restrictive Lung Disease Sickle Cell Chronic Lung Disease 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. PhenX protocol: Global Mental Status Screener - Older Children and Adolescents #130703 Sufficient SCDO:1000334 NCIT:C155932 CGAS Children’s Global Assessment Scale Children’s Global Assessment Scale (CGAS) Global Mental Status Screener - Older Children and Adolescents A person who is separated from their spouse, whether or not there is a legal arrangement. Sufficient SCDO:1000677 NCIT:C156541 Separated 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. Note: "Genetic Test" is a SNOMED CT term. Include NCIT's "Presymptomatic Testing" as a sub-class? http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C15709 Sufficient SCDO:0000449 NCIT:C15709 Genetic Analysis Genetic Examination Genetic Test Genetic Testing 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. Sufficient SCDO:1000006 NCIT:C15900 Lifestyle Therapy 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. http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C1643&jump_to_nav=true Sufficient SCDO:0000915 NCIT:C1643 PPSV Pneumococcal Polysaccharide Vaccine Pneumococcal Polyvalent Vaccine Polyvalent Pneumococcal Vaccine The date on which a diagnosis of disease was made. Sufficient SCDO:1000557 NCIT:C164339 Date of Diagnosis 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. Sufficient SCDO:0000266 NCIT:C16453 Community The statistical characterization of human populations or segments of human populations (e.g., characterization by age, sex, race, or income). Sufficient SCDO:1000468 NCIT:C16495 Demographic Factors Demographics Demography Population Studies / Demography Demographic Factor 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. Include other Ethnic groups that are sub-classes of "Ethnic Group" in ERO. http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C16564 Sufficient SCDO:0001298 NCIT:C16564 Ethnic Origin Ethnic Origins Ethnicity Ethnic Group Activity that requires physical or mental exertion, especially when performed to develop or maintain fitness. Sufficient SCDO:0001305 NCIT:C16567 Exercise 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. Sufficient SCDO:1000560 NCIT:C16576 Female 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. Sufficient SCDO:1000359 NCIT:C16612 Gene Any demarcated area of the Earth; may be determined by both natural and human boundaries. Sufficient SCDO:1000367 NCIT:C16632 Geographic Location Geographic Region Geographic Area 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. Sufficient SCDO:0009453 NCIT:C16676 Hb Hgb Hemoglobin Laboratory test involving interaction of antigens with specific antibodies. Sufficient SCDO:0000617 NCIT:C16723 Immunoassay Immunological Laboratory Method Immunology Test Immunological Assay A systematic means of communicating by the use of sounds, symbols, or gestures. http://purl.obolibrary.org/obo/NCIT_C16779 Sufficient SCDO:0005364 NCIT:C16779 Language 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. http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C16809 Sufficient SCDO:0000708 NCIT:C16809 MIR Scan MRI MRT Magnetic Resonance Imaging Scan Magnetic Resonance Tomography NMR Imaging NMRI Nuclear Magnetic Resonance Imaging Magnetic Resonance Imaging The year when a diagnosis was assigned to an individual's condition. Sufficient SCDO:1000567 NCIT:C168823 Year of Diagnosis 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. Sufficient SCDO:0004047 NCIT:C17004 Genetic Polymorphism 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. Sufficient SCDO:0000949 NCIT:C17047 Health Related Quality of Life QOL Quality of Life 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. 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? http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C17049 Sufficient SCDO:0000962 NCIT:C17049 Racial Group Race 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. http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C17230 Sufficient SCDO:0000614 NCIT:C17230 Immaging by Ultrasonography Ultrasonography Ultrasound Ultrasound Imaging Ultrasound Test 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. Other urine tests to be added as sub-classes? There are many in the NCIT. Sufficient SCDO:0001216 NCIT:C17241 Urinalysis Urine Analysis Urine Test The rate of blood flow through the cerebral arteries. Sufficient SCDO:0000205 NCIT:C173396 CBF Velocity CBFV Transcranial Doppler Velocity Cerebral Blood Flow Velocity The assemblage of properties that distinguish people on the basis of the societal roles expected for the two sexes. Sufficient SCDO:0001341 NCIT:C17357 Gender 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. Sufficient SCDO:1000346 NCIT:C17655 Reproductive History Having to do with the physical, psychological, cognitive, and social consequences of disease, including stigmatization of persons affected. http://bioportal.bioontology.org/ontologies/NCIT?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C17873 Sufficient SCDO:0000939 NCIT:C17873 Psychosocial Effects Psychosocial Effects/Treatment Psychosocial Effect 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. Sufficient SCDO:0004314 NCIT:C18133 Missense Mutation 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. Sub-classes in NCIT to be added here. http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C18772 Sufficient SCDO:0000891 NCIT:C18772 General Medical History Medical History PMH Past Medical History Personal Medical History An instrument used to measure an event involving emission, absorption, or refraction of light. http://purl.obolibrary.org/obo/NCIT_C19228 Sufficient SCDO:0000837 NCIT:C19228 Optical Instrument 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. http://purl.obolibrary.org/obo/NCIT_C19296 Sufficient SCDO:0001371 NCIT:C19296 Deletion Abnormality Deletion Mutation The distinguishing qualities or prominent aspects of an individual person. 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. http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C19332 Sufficient SCDO:0000890 NCIT:C19332 Subject Characteristics Personal Attribute Analysis of the RNA expression pattern in a tissue sample using molecular techniques. Sufficient SCDO:0000768 NCIT:C19771 Expression Profiling Molecular Fingerprinting Molecular Profiling Molecular Profiling Assay 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. Sufficient SCDO:1000559 NCIT:C20197 Male A point mutation occurring within the protein-coding region of a gene, and which codes for the same amino acid as expected. Sufficient SCDO:0005439 NCIT:C20629 Exon Synonymous Mutation Exonic Synonymous Mutation Synonymous Mutation Silent Mutation This gene plays a role in transcriptional regulation and is involved in several signal transduction pathways. Sufficient SCDO:1000393 NCIT:C20711 SP1 Sp1 Transcription Factor Gene SP1 Gene How long something has existed; elapsed time since birth. Could add many sub-classes of "Age" from NCIT. http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C25150 Sufficient SCDO:0000030 NCIT:C25150 Aged Chronological Age Postnatal Age Age 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. Sufficient SCDO:1000859 NCIT:C25191 Contact Name Individual's Name Name Name of Person Person.name Person Name The maximum pressure exerted into the systemic arterial circulation during the contraction of the left ventricle of the heart. Sufficient SCDO:1000892 NCIT:C25298 SYSBP Systolic Pressure systolic bp Systolic Blood Pressure The minimum pressure exerted into the systemic arterial circulation during cardiac ventricular relaxation and filling. Sufficient Vital Signs 6 SCDO:1000893 NCIT:C25299 DIABP Diastolic Pressure Diastolic Blood Pressure Permission to do something. http://purl.obolibrary.org/obo/NCIT_C25460 Sufficient SCDO:0001466 NCIT:C25460 Consent 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. http://purl.obolibrary.org/obo/NCIT_C25464 Sufficient SCDO:0004140 NCIT:C25464 deprecated Country true A collection or single item of factual or reported information, derived from measurement or research, from which conclusions may be drawn. Sufficient SCDO:0006670 NCIT:C25474 Data 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. http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C258 Sufficient SCDO:0000059 NCIT:C258 Antibiotic Agents Antibiotic Drug Antibiotic Drugs Antibiotics Antimicrobial Antimicrobial Agent Antibiotic A protein, RNA or a complex that contains proteins and/or RNA. 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) http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C26548 Sufficient SCDO:0001343 NCIT:C26548 Genome Encoded Entity Gene Product 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. Perhaps add "Cerebellar Ataxia" subclass? Sufficient SCDO:0000087 NCIT:C26702 Ataxia Abnormally high level of bilirubin in the blood. Excess bilirubin is associated with jaundice. Sufficient SCDO:0003118 NCIT:C27088 High Blood Bilirubin Levels Hyperbilirubinemia A balloon type pouch or bulge in the wall of a cerebral blood vessel. Sufficient SCDO:0000202 NCIT:C27222 Brain Aneurysm Cerebral Artery Aneurysm Dilatation of the Cerebral Artery Intracranial Aneurysm Cerebral Aneurysm System of classification based on nation from which a person originates, regardless of the nation in which he/she currently resides. Include list of nations below. http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C28407 Sufficient SCDO:0000792 NCIT:C28407 Birth Country Country of Birth Country of Origin National Origin The totality of characteristics of reproductive structure, functions, phenotype, and genotype, differentiating the male from the female organism. Sufficient SCDO:1000671 NCIT:C28421 Participant Sex Participant's Sex Respondent's Sex Sex of Participant Sex 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. http://purl.obolibrary.org/obo/NCIT_C28516 Sufficient SCDO:0000477 NCIT:C28516 Sickle Cell Dactylitis An acute infectious disorder caused by gram positive or gram negative bacteria. Representative examples include pneumococcal, streptococcal, salmonella and meningeal infections. Perhaps use as Disease Modifier? http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C2890 Sufficient SCDO:0000100 NCIT:C2890 Bacterial Infection Increase in the number of hematopoietic cells in the bone marrow. It may involve all or individual hematopoietic cell lines. http://purl.obolibrary.org/obo/NCIT_C2905 Sufficient SCDO:0007438 NCIT:C2905 Hyperplasia of Bone Marrow Marrow Hyperplasia Bone Marrow Hyperplasia 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. http://purl.obolibrary.org/obo/NCIT_C29091 Sufficient SCDO:0008062 NCIT:C29091 ENGERIX-B Hepatitis B Vaccine (Recombinant) RECOMBIVAX HB Recombinant Hepatitis B Vaccine Hepatitis B Vaccine 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. http://purl.obolibrary.org/obo/NCIT_C29107 Sufficient SCDO:0005247 NCIT:C29107 Intravenous Fluid IV fluids Any disease or disorder that occurs during the course of, or because of, another disease, treatment, or procedure. Sufficient SCDO:1000384 NCIT:C2959 Complications Medical Complication Complication 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. http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C29719 Sufficient SCDO:0001081 NCIT:C29719 Tobacco Smoking History Smoking History An account of all experiences related to the receipt of blood, WBC, platelets, and/or other blood components. Sufficient SCDO:0000569 NCIT:C30142 Transfusion History History of Transfusion An infection caused by a fungus. Sufficient SCDO:1000349 NCIT:C3245 Fungal Infection Any disease caused by a virus. 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) http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C3439 Sufficient SCDO:0001233 NCIT:C3439 Viral Disease Virus Disease Viral Infection An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones. http://purl.obolibrary.org/obo/NCIT_C34465 Sufficient SCDO:0007856 NCIT:C34465 Cholecystitis A sensation of discomfort secondary to surgery. Sufficient SCDO:1000451 NCIT:C34887 Perioperative Pain Post Surgery Pain Post-Operative Pain Postoperative Pain Peri-Operative Pain 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. Sufficient SCDO:1000399 NCIT:C34941 Complication Related to Pregnancy Pregnancy Complication 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. Sufficient SCDO:0001144 NCIT:C35069 Thalassemia Cholecystitis that is persistent and long-standing. http://purl.obolibrary.org/obo/NCIT_C35146 Sufficient SCDO:0009201 NCIT:C35146 Chronic Cholecystitis Acute inflammation of the gallbladder. http://purl.obolibrary.org/obo/NCIT_C35152 Sufficient SCDO:0008927 NCIT:C35152 Acute Cholecystitis Acute infection of the bile ducts caused by bacteria ascending from the small intestine. http://purl.obolibrary.org/obo/NCIT_C35372 Sufficient SCDO:0008766 NCIT:C35372 Ascending Cholangitis Necrotic changes in the bone tissue of the femoral head due to interruption of blood supply. 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 http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C35447 Sufficient SCDO:0000842 NCIT:C35447 Avascular Necrosis of Femoral Head Avascular Necrosis of the Capital Femoral Epiphysis Avascular Necrosis of the Femoral Head Avascular Necrosis of the Head of Femur ONFH Osteonecrosis of the Femoral Head Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. Sufficient SCDO:1000435 NCIT:C3671 Trauma Wound Injury 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. http://purl.obolibrary.org/obo/NCIT_C38060 Sufficient SCDO:0001313 NCIT:C38060 Eye Exam Eye Examination A non-invasive method that provides estimates of arterial oxyhemoglobin saturation by utilizing selected wavelengths of light to determine the saturation of oxyhemoglobin. Sufficient SCDO:1000351 NCIT:C38085 Pulse Oximetry 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. http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C38141 Sufficient SCDO:0000911 NCIT:C38141 7 Valent PncOMPC Vaccine 7-Valent PncOMPC Vaccine Heptavalent Pneumococcal Conjugate Vaccine PCV 7 PCV7 Vaccine Pneumococcal 7-Valent Conjugate Vaccine (Diphtheria CRM197 Protein) Prevenar Prevnar Seven Valent Pneumococcal PS Meningococcal OMPC Conjugate Vaccine Seven-Valent Pneumococcal PS-Meningococcal OMPC Conjugate Vaccine Pneumococcal 7-Valent Conjugate Vaccine Without clinical signs or indications that raise the possibility of a particular disorder or dysfunction. Sufficient SCDO:0004802 NCIT:C3833 No Symptoms Asymptomatic 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. http://purl.obolibrary.org/obo/NCIT_C38698 Sufficient SCDO:0002771 NCIT:C38698 Blood Hyperviscosity Hypercoagulability Thrombophilia Hyperviscosity 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. 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. SCD Management guidelines - Tanzania Sufficient SCDO:0004183 NCIT:C3890 Hypoxia 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. Sufficient SCDO:1000156 NCIT:C39547 Clinical Efficacy Treatment Efficacy 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. http://purl.bioontology.org/ontology/MESH/D004989 Sufficient SCDO:0300001 NCIT:C39796 Moral Philosophy Natural Law Ethics 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. 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. Multiple countries and cultural groups Self Clinic Patients Spanish 13 years and older yes Sufficient SCDO:0000103 NCIT:C40438 BDI-II Beck Depression Inventory Beck Depression Inventory-II Beck Depression Inventory-II (BDI-II) A sequence of decimal digits (0-9) that is used for identifying a destination telephone line or other device in a telephone network. Sufficient SCDO:1000881 NCIT:C40978 Phone Phone Number Telephone Telephone Number 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. It didn't have sense to have this term as a sub-class of "Major Area", which has also been deprecated. http://purl.obolibrary.org/obo/NCIT_C41129 Sufficient SCDO:0006934 NCIT:C41129 deprecated Region true 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. Sufficient SCDO:1000713 NCIT:C42559 C Celsius Celsius Degree Celsius Temperature Degree C Degree Centigrade Degrees C Degrees Celsius Degree Celsius 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. Sufficient SCDO:0005031 NCIT:C43646 Association Determination of a value is not relevant in the current context. Sufficient SCDO:1000770 NCIT:C48660 Not Applicable NA 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. Sufficient SCDO:0004740 NCIT:C49131 Histologic Test Diagnostic Histology Test The number of breaths (inhalation and exhalation) taken per minute time. Sufficient SCDO:1000716 NCIT:C49674 Breaths/Minute bpm breaths/min {BREATHS}/min {breaths}/min Breaths per Minute Abnormal decrease of rate of breathing. Sufficient SCDO:1000293 NCIT:C50474 Decreased Respiratory Rate Bradypnea Abnormal increase of rate of breathing. Sufficient SCDO:1000347 NCIT:C50767 Fast Breathing Increased Respiratory Rate Tachypnea 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. http://purl.obolibrary.org/obo/NCIT_C50791 Sufficient SCDO:0007744 NCIT:C50791 Urinary Tract Infection Removal of tissue from the liver for microscopic examination. Use relevant object property to link to "Elevated Hepatic Iron Concentration". http://purl.obolibrary.org/obo/NCIT_C51677 Sufficient SCDO:0000693 NCIT:C51677 Liver Biopsy 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. Sufficient SCDO:1000674 NCIT:C51773 Married Status Married Indicates a person who has never been married or whose marriages have been annulled. Sufficient SCDO:1000678 NCIT:C51774 Never Been Married/Annulled Never Married Never Married Status Never Been Married Indicates a person who is no longer married because of the death of his/her spouse and has not remarried. Sufficient SCDO:1000675 NCIT:C51775 Widowed Status Widowed Indicates a person whose marriage has been legally dissolved and has not remarried. Sufficient SCDO:1000676 SCDO (Jade Hotchkiss) NCIT:C51776 Divorced 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. http://purl.obolibrary.org/obo/NCIT_C519 Sufficient SCDO:0001259 NCIT:C519 Garamicin Garamycin Genoptic Genoptic S.O.P. Gentamycin Gentamycin Complex U-Gencin Gentamicin Administration of antibiotics with the intent of preventing bacterial infection. http://purl.obolibrary.org/obo/NCIT_C51993 Sufficient SCDO:0006790 NCIT:C51993 Is recommended, particularly up to the age of 5 years, to prevent bacterial infections in SCD patients. Antibiotic Prophylaxis 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. http://purl.obolibrary.org/obo/NCIT_C52009 Sufficient SCDO:0000048 NCIT:C52009 Amniotic Fluid Testing Amniocentesis 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. Sufficient SCDO:0000606 http://www.drugbank.ca/drugs/DB01050 NCIT:C561 2-[4-(2-methylpropyl)phenyl]propanoic acid Advil Ibuprophen Motrin Ibuprofen 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. Sufficient SCDO:1000450 NCIT:C61797 Ketamine 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. Used to treat neuropathic pain http://purl.obolibrary.org/obo/NCIT_C62005 Sufficient SCDO:0004190 NCIT:C62005 Amitriptyline A point mutation occurring within the protein-coding region of a gene, and which codes for a stop that can truncate the protein. Sufficient SCDO:0003789 NCIT:C62198 Premature Termination Abnormality Premature Termination Mutation Nonsense Mutation A small scale mutation caused by the substitution of a single nucleotide for another nucleotide. http://purl.obolibrary.org/obo/NCIT_C62200 Sufficient SCDO:0001372 NCIT:C62200 Point Mutation A way of denoting the collective genotype of a number of closely linked loci on a chromosome. Sufficient SCDO:0007716 NCIT:C63547 Haplotype A unit of concentration (molarity unit) equal to one millimole of solute per liter of solution. Sufficient SCDO:1000899 NCIT:C64387 Millimolar mM mmol/L Millimole per Liter 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. Sufficient SCDO:1000505 NCIT:C64572 Gram per Cubic Meter Microgram per Milliliter Microgram/Milliliter Milligram per Cubic Decimeter Milligram per Liter Nanogram per Microliter g/m3 gram(s)/cubic meter gram/cubic meter mcg/mL mg/L mg/dm3 mg/l microgram per milliliter microgram per millilitre microgram(s)/millilitre microgram/millilitre milligram per liter milligram(s)/litre ng/uL ug/mL ug/ml µg/mL microgram per millilitre 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. http://purl.obolibrary.org/obo/NCIT_C64625 Sufficient SCDO:0008454 NCIT:C64625 3-(Aminomethyl)-5-methyl-hexanoic Acid 3-Isobutyl GABA CI 1008 Lyrica PD 144723 Pregabalin 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. Sufficient SCDO:1000620 NCIT:C64783 Gram per Deciliter Gram/Deciliter g/dl gram per deciliter g/dL