LicenseDocument abstract for SCDO description of SCDO's access rights accrualMethod accrualPeriodicity accrualPolicy description of SCDO's audience available the standard(s) to which the SCDO conforms coverage of SCDO isReferencedBy issued language license 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.) no ready for release dc:creator Creator A formal account of the class/term. yes pending vetting by the SCDO developers dc:description 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 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 An administrative note of use for a curator but of no use for a user. IAO:0000232 no organizational term curator note A database cross-reference. An annotation which directs one to information contained within a database. SBO:0000554 metadata complete - requires restrictions and relationships DbXref Xref database cross-reference database_cross_reference db xref hasDbXref database cross reference 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. IAO:0000119 yes metadata complete - requires restrictions and relationships definition source description source SCDO 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 '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 SCDO 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 has age of onset SCDO 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 has cross-cultural adaptation SCDO 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 Staging provided is disease/phenotype specific. has disease stage SCDO 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 has protocol SCDO 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 has recommended procedure SCDO 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 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 SCDO 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 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 SCDO 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 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. metadata complete - requires restrictions and relationships has_application_toward For external terms/classes, the ontology from which the term was imported. IAO:0000412 no metadata complete - requires restrictions and relationships imported from Eventually to be replaced by "is caused by" object property metadata incomplete is caused by SCDO 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 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 SCDO 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 selection criteria met SCDO 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 validated for age ranges SCDO 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 'yes' indicates that the measure is freely available. 'no' indicates that the measure is not freely available. freely available abbre 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 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 Additional information describing the class/term. yes pending vetting by the SCDO developers rdfs:comment A human-readable name for the class/term. yes pending vetting by the SCDO developers rdfs:label Further information about the class/term. yes pending vetting by the SCDO developers rdfs:seeAlso A preferred label. yes pending vetting by the SCDO developers skos:prefLabel 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) Label and description adapted pending vetting by the SCDO developers age of onset modified by SCDO A relationship between a Sickle Cell Disease Variant and a relevant ICD-10-CM Diagnosis Code. pending vetting by the SCDO developers has clinical code Description inherent in name (not provided by source). Every class must have this property. IAO:0000114 organizational term Used only for classes, not properties. For properties, use "property has curation status" annotation property. has curation status SCDO A relation that holds between an entity (device, instrument) or a process (test, assy or method) and a measurement. Requested inclusion of this property into RO. Check details here again after inclusion. Could be replaced by RO property "has output" (RO:0002234): "P has output c iff c is a participant in p, c is present at the end of p, and c is not present at the beginning of p." pending vetting by the SCDO developers has measurement SCDO A relation between a process (test, method, assay, therapy, etc.) and a specific medical device used in the process. Requested inclusion of this property into RO. Check details here again after inclusion. pending vetting by the SCDO developers has medical device 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). If required later, specify as inverse of "phenotype of" in Protege. no metadata complete - requires restrictions and relationships has phenotype SCDO A relationship between a measurement and the test, method or assay used to produce the measurement, or between a device and the test, method or assay in which the device is used. pending vetting by the SCDO developers has diagnostic tool SCDO A relationship between a condition (a phenotype or disease) and an entity (a genotype, genetic variation or environment, which could be an existing condition) where the entity has a causal role for the condition. Requested inclusion of this property into RO. Check details here again after inclusion. metadata complete - requires restrictions and relationships caused by SCDO A relation between a phenotype and one or more diagnostic tools. Requested inclusion of this property into RO. Check details here again after inclusion. metadata complete - requires restrictions and relationships diagnosed by SCDO A relation between a phenotype and a type of treatment or a specific treatment. Requested inclusion of this property into RO. Check details here again after inclusion. If required later, specify as inverse of "treats" in Protege. pending vetting by the SCDO developers treated with SCDO A relationship between a phenotype and a disease modifier, where the disease modifier modifies the mortality (due to the phenotype) of the SCD sufferer. pending vetting by the SCDO developers mortality modified by 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 Description inherent in name (not provided by source) This property is to be split up into two other properties: "has consequences" and "has symptoms". [Could request that the Infectious Disease Ontology (IDO) defines this term explicitly.] IDO:0000660 metadata complete - requires restrictions and relationships results_in 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) Label and description adapted metadata complete - requires restrictions and relationships temporal pattern modified by SCDO 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. pending vetting by the SCDO developers Essential measures have been attributed according to information in PhenX. essential measure SCDO A relationship between a phenotype and a disease modifier, where the phenotype is modified by the disease modifier. If required later, specify as inverse of "modifies" in Protege. pending vetting by the SCDO developers modified by SCDO A relationship between a disease modifier and a phenotype, where the disease modifier modifies the phenotype. If required later, specify as inverse of "modified by" in Protege. pending vetting by the SCDO developers modifies SCDO A relation between a type of treatment or a specific treatment and a phenotype, where the type of treatment or specific treatment treats the phenotype. Requested inclusion of this property into RO. Check details here again after inclusion. If required later, specify as inverse of "treated with" in Protege. pending vetting by the SCDO developers treats has causal mutation has molecular phenotype 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). A type of imaging test used to look at organs in the abdomen, including the liver, gallbladder, spleen, pancreas, and kidneys. The blood vessels that lead to some of these organs, such as the inferior vena cava and aorta, can also be examined with ultrasound. yes Abdominal Sonogram Right Upper Quadrant Sonogram Abdominal Ultrasound The performance of the basic activities of self care, such as dressing, ambulation, or eating. ADL MESH:D000203 Only label adapted ADL Daily Living Activities Daily Living Activity Self Care (Rehabilitation) Self-Care Ability to Carry Out Activities of Daily Living SCDO Abnormality in the structure and function of the oxygen-carrying protein of erythrocytes. Abnormal Hb Structure Consider inclusion of other sub-classes of this term in the Human Phenotype Ontology. - Elevated hemoglobin A1c - Imbalanced Hemoglobin Synthesis (and the 2 terms below this) Methemoglobina Others from MESH?: Hemoglobin E, J, M, Methemoglobin? HP:0011902 Abnormal Hemoglobin Structure Present in SCD Abnormality in structure and function of the Red Blood Cell. Are there other relevant erythrocyte abnormalities that can be included as children here? If not, this class can be removed and just keep "Abnormal Hemoglobin". HP:0001877 yes Abnormality of Erythroid Lineage Cell Abnormality of Red Blood Cells Abnormality of red blood cell Abnormality of Erythrocytes Acetaminophen, also known as paracetamol, is commonly used for its analgesic and antipyretic effects. Its therapeutic effects are similar to salicylates, but it lacks anti-inflammatory, antiplatelet, and gastric ulcerative effects. Acetaminophen 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). Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0001061 no Grade 1, 2, 3, 4. Clogging of the skin pores by dead skin cells, sebum and sometimes bacteria. Blemishes characterized by pustules (pimples), blackheads, whiteheads, papules, nodules, cysts. Acne Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene) and nitrate-rich foods. C98805 no Acquired Methemoglobinemia 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. CMO:0000210 no APTT; Quick Activated Partial Thromboplastin Time 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. Castro et al 1994 Blood; Knight et al 1999 Ped Pulm; Vichinsky et al 2000 NEJM; Ballas et al 2010 Am J Hem; Miller et al 2012 Am J Respir Crit Care Med. ACS Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. further work Castro et al 1994 Blood yes Several possible etiologies including infections by various classes of microorganisms, pulmonary fat emobolism, infarction and pulmonary embolism. Acute onset of respiratory symptoms and signs including fever, cough, dsypnea, chest pain, tachypnea, respiratory distress, crackes and wheezes. Treatments: Curative therapies such as BMT and/or gene therapy; Disease modifying therapies such as hydroxyurea and chronic transfusion; Acutely- antibiotics, oxygen, adequate hydration, bronchodilators when there is airway hyperresponsiveness, transfusion- simple or exchange as appropriate, physical therapy and, when necessary, assisted ventilation. Acute Chest Syndrome A condition that co-exists or follows from sickle cell disease and that has a severe and rapid onset of symptoms with short duration. yes Acute Complications of SCD Acute Complications of Sickle Cell Disease Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). 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. AKI 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. HP:0001919 yes Can occur at any age. "Yes: Stage determined by both serum creatinine and urine output: Stage 1: creatinine elevated 1.5-1.9 times baseline OR >0.3mg/dl (26.5 mmol/l) increase OR urine output <0.5ml/kg/h for 6-12 hours Stage 2: creatinine elevated 2.0-2.9 times baseline OR urine output <0.5ml/kg/h for >=12 hours Stage 3: creatinine elevated >=3.0 times baseline OR elevation to >=4.0 mg/dl (353.6 mmol/l) increase OR urine output <0.5ml/kg/h for 6-12 hours OR Initiation of renal replacement therapy OR in patients <18 years, decrease in eGFR to <35 ml/min per 1.73 m2 OR urine output <0.3 ml/kg/h for >=24 hours OR Anuria for X12 hours". Variety of causes - may be related to profound volume depletion, acute tubular injury, hypoperfusion, sickle cell crisis, interstitial nephritis, rapidly progressive glomerulonephritis, intrinsic renal disease, obstructive renal disease. AKI is defined as the following (Not Graded): Increase in SCr by >=0.3 mg/dl (>=26.5 lmol/l) within 48 hours; or increase in SCr to >=1.5 times baseline, which is known or presumed to have occurred within the prior 7 days; or urine volume <0.5 ml/kg/h for 6 hours. Acute Kidney Failure Acute Renal Failure Acute Kidney Injury An acute onset of wheezing in a person with SCD who has no co-morbid asthma. Cohen et al 2011 Am J Hematol., Glassberg et al 2014 Curr Opin Pediatr., Knight-Madden et al 2014 Ped Resp Rev Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. yes Etiology may be unclear. May be related to inflammation of SCD and/or viral lower respiratory tract infection. Normal Chest X-ray PFTs may be done to asses for airway hyper-responsiveness. Acute Non-Specific Wheezing Episode Sickle cell pain management that aims to heal the acute process. Evidence-Based Management of Sickle Cell Disease, Expert Panel Report, 2014. yes Acute Sickle Cell Pain Treatment Acute Sickle Cell Pain Management Acute injury of renal tubular cells that usually results from prolonged renal ischemia, nephrotoxins, or sepsis. ATN Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0008682 yes Can occur at any age. 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. Renal Tubular Necrosis Acute Tubular Necrosis An acute respiratory illness with no lower respiratory tract signs or infiiltrate on chest radiograph. URTI Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. OAE:0000358 yes Various microorganisms, usually viral. Acute onset of respiratory symptoms and signs including cough, coryza +/- fever. URTI Acute Upper Respiratory Tract Infection The extent to which a person's behaviour - taking medications, following a diet and/or executing life style changes, corresponds to agreed recommendations by a health care provider. MESH:D010349 www.who.int/chp/knowledge/publications/adherence_full_report.pdf no Adherence to Long Term Therapy Patient Adherence Patient Compliance Patient Cooperation Adherence 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. CHEBI:60809 no Adjuvant Medicine Adjuvant The Self-Administered Questionnaire for Migraine is a 20-item questionnaire that assesses the frequency of severe headaches, the level of pain, whether the person is taking medications, and associated complications such as nausea. PX130501 Only label adapted PhenX protocol: Migraine #130501 Adult Migraine Questionnaire ASCQ-Me (Adult Sickle Cell Quality of Life Measurement Information System) is a patient-reported outcome measurement system that assesses the physical, social, and emotional impact of sickle cell disease (SCD). ASCQ-Me includes questions that enable adults with SCD to describe their functioning and well-being. ASCQ-Me 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 – Frequency and Severity. 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. ASCQ-Me Check and show which source was used for the description and whether the description was adapted from the source. Cross-cultural adaptation underway in Brazil. ASCQ-Me's development using modern measurement theory facilitates cross cultural adaptation. Self Clinic Patients (Adults with SCD) Spanish; Portuguese Rigor in development, using modern measurement theory and aligned with PROMIS measurement development. 18 years and older no ASCQ-Me Adult Sickle Cell Quality-of-Life Measurement Information System Adult Sickle Cell Quality-of-Life Measurement Information System (ASCQ-Me) An adverse event that occurs after a drug administration. ADE Should this be a sub-class of "Environmental Disease Modifier"? OAE:0000005 no ADE ADR Adverse Drug Reaction Drug Adverse Event Adverse Drug Event Electrophoresis in which agar or agarose gel is used as the diffusion medium. D004587 no Gel Electrophoresis Agar Gel Electrophoresis Agarose Gel Electrophoresis How long something has existed; elapsed time since birth. Still must add many sub-classes of "Age" in NCIT. NCIT:C25150 no Aged Chronological Age Postnatal Age Age A rare congenital disorder characterized by a partial or complete absence (agenesis) of an area of the brain that connects the two cerebral hemispheres. ACC Include links to relevant Therapeutics. yes The cause of agenesis of corpus callosum is usually not known, but it can be inherited as either an autosomal recessive trait or an X-linked dominant trait. It can also be caused by an infection or injury during the twelfth to the twenty-second week of pregnancy (intrauterine) leading to developmental disturbance of the fetal brain. Intrauterine exposure to alcohol (Fetal alcohol syndrome) can also result in ACC. In some cases mental retardation may result, but intelligence may be only mildly impaired and subtle psychosocial symptoms may be present. Agenesis of corpus callosum (ACC) may initially become evident through the onset of epileptic seizures during the first weeks of life or within the first two years. However, not all individuals with ACC have seizures. ACC Agenesis of Corpus Callosum produces symptoms during the first two years of life in approximately ninety percent of those affected. It has been thought to be a very rare condition but the increased use of neuro-imaging techniques, such as MRI, is resulting in an increased rate of diagnosis. This condition may also be identified during pregnancy through an ultrasound. Currently, the highest estimate of incidence is 7 in 1000 individuals. Agenesis of Corpus Callosum A test to measures the level of the alanine transaminase (ALT) enzyme in the blood. yes This test is used to determine if a person has liver damage, as ALT is an enzyme found in a high level in the liver and injury to the liver results in release of ALT into the blood. ALT Blood Test Serum ALT Blood Test Alanine Transaminase Blood Test A quantitative measurement of the amount of alanine aminotransferase present in a sample of serum. Only label adapted ALT Level Alanine Aminotransferase Level Alanine Transaminase Level Blood Alanine Transaminase Amount Circulating Alanine Transaminase Level Glutamic-Pyruvic Transaminase Level Serum ALT Measurement Serum Alanine Aminotransferase Measurement Serum Alanine Transaminase Measurement Serum SGPT Measurement Serum concentration is increased in viral hepatitis and myocardial infarction. Alanine Transaminase Level Albinism is a defect of melanin production that results in little or no color (pigment) in the skin, hair, and eyes. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0001022 yes Oculocutaneous, Ocular albinism, Hermansky-Pudlak syndrome. Genetic disorder. Absence of color in the hair, skin, or iris of the eye, lighter than normal skin and hair, patchy, missing skin color. Achromasia Albinism Increased concentration of albumin in the urine; more than 30mg in 24hours or urine albumin creatinine ratio (ACR) >30 mg/g or >3 mg/mmol. Include as sub-class?: macroalbuminuia (possibly now referred to as "high level albuminuria"...see PhenX protocol for " Urinary Microalbumin Assay") HP:0012592 yes When assessed by albuminuria, often presents within second decade of life in sickle cell disease and prevalence increases with age. YES: Categories - A1 (Normal to midly increased, fomerly normalbuminuria - UACR<30mg/g or 3mg/mmol), A2 (moderately increased or microalbuminuria - UACR 30-300 mg/g or 3-30mg/mmol); A3 - (Severely increased or previously macroalbuminuria - >300mg/g or >30mg/mmol). Nonspecific finding of many forms of kidney disease, including diabetes, glomerular disease, sickle cell disease. Albumin excretion > 30mg in 24hr (Urine ACR >30 mg/gm creatinine or >3 mg/mmol). Albuminuria Record of whether or not the respondent has ever consumed any alcoholic beverage during his or her entire life. yes PhenX protocol: Alcohol - Lifetime Use #030101 The PhenX protocol can be used to assess the participant’s lifetime exposure to alcohol. The question is often used as a prelude to more detailed questions about alcohol use to screen out individuals who have ever consumed alcohol. Alcohol - Lifetime Use A drinking behavior associated with the intake of alcohol. NBO:0000131 Only label adapted Alcohol Consumption Alcohol Intake A description of an individual's current and past experience with alcoholic beverage consumption. Add other terms in the PhenX "Alcohol Use" collection? no Alcohol Use History A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted. MeSH:D017085 no A-Thalassemia Alpha-Thalassemia Alpha Thalassemia A condition in which a person has reduced protein production from one of the four alpha-globin alleles. NCIT:C95536 no Alpha-Thalassemia Silent Carrier Alpha Thalassemia Silent Carrier A condition in which a person has reduced protein production from two of the four alpha-globin alleles. NCIT:C95535 no Alpha-Thalassemia Trait Alpha Thalassemia Trait Drugs that selectively bind to and activate alpha adrenergic receptors. MESH:D000316 no Adrenergic Alpha-Adrenergic Adrenergic Alpha Agonists Alpha Adrenergic Receptor Agonist Alpha-Adrenergic Receptor Alpha-Adrenergic Agents Members of the alpha-globin family. In humans, they are encoded in a gene cluster on chromosome 16. They include zeta-globin and alpha-globin. There are also pseudogenes of zeta (theta-zeta) and alpha (theta-alpha) in the cluster. Adult hemoglobin is comprised of 2 alpha-globin chains and 2 beta-globin chains. MESH:D055542 no Alpha-Globins Amniotic fluid may be tested at 14 to 16 weeks to provide a definitive answer Amniotic Fluid Testing Methods of pain relief that may be used with or in place of analgesics. MeSH:D000698 no Analgesias Includes cognitive behavior therapy, acupuncture for pain, hypnosis, transcutaneous electrical nerve stimulation (TENS) and massage. Analgesia Compounds capable of relieving pain without the loss of consciousness. MESH:D000700 yes Analgesic Agent Analgesic Drugs Anodynes Pain Killers Painkiller Painkillers Antinociceptive Agents Analgesics An adverse drug event that results in unexpected and unwanted events due to anesthetic drug treatment. OAE:0002348 no Anesthetic Complication AE Grayish, brown, or dark red streaks caused by cracks in Bruch’s membrane that are histologically characterized by calcium deposition. Angioid streaks are most characteristic of sickle cell anemia and can occur to a lesser extent in other sickle cell syndromes, but not in sickle cell trait. Nagpal KC, Asdourian G, Goldbaum M, et al. Angioid streaks and sickle haemoglobinopathies. Br J Ophthalmol 1976;60:31-34. Ballas et al 2010 Am J Hematol no Angioid streaks are a phenomenon seen in many retinal diseases including non-proliferative sickle retinopathy (NPSR) and proliferative sickle retinopathy (PSR). Diagnostic Criteria: Eye exam using direct and indirect ophthalmoscopy as well as slit lamp biomicroscopy. The fundus will have red-orange to brown bands in affected areas, and they may emanate from the optic disk. Angioid Streaks A class of drugs whose main indications are the treatment of hypertension and heart failure. They exert their hemodynamic effect mainly by inhibiting the renin-angiotensin system. They also modulate sympathetic nervous system activity and increase prostaglandin synthesis. They cause mainly vasodilation and mild natriuresis without affecting heart rate and contractility. MESH:D000806 no ACE ACE Inhibitors Angiotensin Converting Enzyme Angiotensin Converting Enzyme Inhibitors Angiotensin-Converting Enzyme Inhibitors The respondent's total family income from the last calendar year. Include under QoL? The PhenX protocol is U.S. specific. Is there one relevant to the African setting? PX11100 yes Family income is often associated with the health of those who live in a residence. For example, a family with a total income below the poverty level often does not have access to the same quality of health care; enough money for the basic necessities (food, rent, gas); or live in a safe or desirable neighborhood. "Household" is defined as the entire group of persons who live in the sample unit. It may consist of several persons living together or one person living alone. It includes the household reference person and any relatives living in the unit as well as roomers, employees, or other persons not related to the reference person. "Family" is defined as an individual or a group of two or more related persons who are living together in the same household; for example, the reference person, his or her spouse, foster son, daughter, son-in-law, and their children, and the wife’s uncle. Also, unmarried couples (same-sex and opposite-sex couples) are considered as belonging to the same family. Additional groups of persons living in the household who are related to each other but not the reference person are considered to be separate families. There can be more than one family living in the same household. Each family is considered a separate case and should be interviewed separately. "Reference Person (Family)" is the person or one of the persons in the family, equal to or greater than the age of others who live at the residence, who is generally the first person mentioned in the family roster. Generally, this person is age 18 years or older and the same person that owns or rents the housing unit. A reference person is designated to provide information about family members who live in the household. However, if the reference person is not available, the information can be obtained for another family member age 18 years or older. Annual Family Income Substance that reduces or suppresses inflammation. MESH:D000893 no Anti Inflammatories Anti Inflammatory Agents Anti-Inflammatories Anti-Inflammatory Agents Anti-Inflammatory Drug Antiinflammatories Antiinflammatory Agents Anti-Inflammatory Agent 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. no Antibiotic Agents Antibiotic Drugs Antibiotics Antimicrobial Antimicrobial Agent Antibiotic Drugs that bind to but do not activate histamine receptors, thereby blocking the actions of histamine or histamine agonists. Classical antihistaminics block the histamine H1 receptors only. MESH:D006633 Only label adapted Histamine Antagonist Antihistamine Used in the treatment of acute or chronic vascular hypertension regardless of pharmacological mechanism. Among the antihypertensive agents are diuretics; (especially Diuretics, Thiazide); Adrenergic Beta-Antagonists; Adrenergic Alpha-Antagonistics; Angiotensin-Converting Enzyme Inhibitors; Calcium Channel Blockers; Ganglionic Blockers; and Vasodilator Agents. MESH:D000959 no Agents, Antihypertensive Anti-Hypertensives Antihypertensives Antihypertensive Agents A neurological and physiological symptom characterized by a painful or apprehensive uneasiness of mind usually over an impending or anticipated ill. Physical symptoms include increased blood pressure (rapid heartbeat), trembling or dizziness. SYMP:0000412 yes Anxiety symptoms Panic Worry Anxiety and anxious symptoms are more prevalent among children and adults with SCD compared with the general population People with anxiety disorders usually have recurring intrusive thoughts or concerns. Anxiety This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. APOL1 yes APOL1 Official Full Name: apolipoprotein L1; Gene ID: 8542; Chromosome: 22; Position: 36253071..36267531 (GRCh38.p2); Variants Apolipoprotein L1 APOL1 Exercises performed in or underwater for conditioning or rehabilitation (e.g., in injured athletes or patients with joint diseases). Evidence-Based Management of Sickle Cell Disease, Expert Panel Report, 2014 no Aqua Therapy Hydrotherapy Aquatic Rehabilitation A blood test that measures the pH of the blood, the partial pressure of arterial carbon dioxide and oxygen, the bicarbonate level. PX90200 yes PhenX protocol: Arterial Blood Gas (ABG) #090201 An ABG test measures the blood gas tension values of arterial oxygen tension (PaO2), arterial carbon dioxide tension (PaCO2), and acidity (pH). In addition, arterial oxygen saturation (SaO2) can be determined. Such information is vital when caring for patients with critical illness or respiratory disease. ABG Test An ABG test involves puncturing an artery with a thin needle and syringe and drawing a small volume of blood. The most common puncture site is the radial artery at the wrist, but sometimes the femoral artery in the groin or other sites are used. The blood can also be drawn from an arterial catheter. Arterial Blood Gas Test Abnormal formation of blood vessels that shunt arterial blood directly into veins without passing through the CAPILLARIES. They usually are crooked, dilated, and with thick vessel walls. A common type is the congenital arteriovenous fistula. The lack of blood flow and oxygen in the capillaries can lead to tissue damage in the affected areas. MESH:D001165 Only label adapted Arteriovenous Malformations Arteriovenous Malformation Artesunate is part of the artemisinin group of drugs that treat malaria. It is a semi-synthetic derivative of artemisinin that is water-soluble and may therefore be given by injection. It is on the World Health Organization’s List of Essential Medicines. DB09274 no Artesunate Joint pain. Provide source for additional info. HP:0002829 no Inflammatory diseases, autoimmune diseases, infection, trauma. Pain in one or more joints. Arthralgias Joint pain Arthralgia Inflammation of a joint. Provide source for additional info. HP:0001369 no Infection (bacteria), ischemia, joint injury (trauma, surgery), degeneration. Joint pain, joint swelling, stiffness, lack of function. Arthritis This protocol includes 30 self-administered questions from the short form of the Adult Sickle Cell Quality of Life Measurement Information System (ASCQ-Me). Domains covered include emotional impact (5 items), social functioning impact (5 items), sleep impact (5 items), stiffness impact (5 items), pain episode (5 items), and pain frequency (5 items). no Self Clinic Patients (Adults with SCD) 18 and older Life stage: Adult ASCQ-Me - Quality of Life in SCD A bioassay to measure levels of aspartate aminotransferase (AST), which is released into the blood following tissue damage. PX811200 no PhenX protocol: Aspartate Aminotransferase Level #811201 Aids in diagnosis of viral hepatitis. Elevated levels of red blood cell aspartate aminotransferase (AST) are reflective of hemolysis associated with sickle cell disease. Additionally, elevated levels of AST are associated with myocardial infarction, liver disease, hemolysis and anemia, pancreatitis, muscle damage or inflammation, trauma and mononucleosis. AST Blood Test Serum AST Blood Test The PhenX protocol provides instructions for drawing, processing and storing blood according to the National Health and Nutrition Examination Survey (NHANES) methods. Because there are many comparable assays for measuring red blood cell aspartate aminotransferase (AST), the protocol also provides basic guidelines to aid comparability among different studies. Aspartate Aminotransferase Blood Test A quantitative measurement of the amount of aspartate aminotransferase present in a sample of serum. NCIT:C61018 Only label adapted AST Level Aspartate Aminotransferase Measurement Aspartate Transaminase Level Blood Aspartate Transaminase Amount Red Blood Cell Aspartate Aminotransferase Level Serum Aspartate Aminotransferase Measurement Serum Aspartate Transaminase Measurement Serum SGOT Measurement Aspartate Aminotransferase Level A set of 27 questions administered to adults with sickle cell disease (SCD) to determine the quality of care that they have received from health care providers. Keller, S. D., Yang, M., Treadwell, M. J., Werner, E. M., & Hassell, K. L. (2014). Patient reports of health outcome for adults living with sickle cell disease: Development and testing of the ASCQ-Me item banks. Health and Quality of Life Outcomes, 12(1), 125. doi:10.1186/s12955-014-0125-0 http//www.phenxtoolkit.org/index.php?pageLink=browse.protocols&id=820100 yes PhenX protocol: Quality of Care - Adults #820101 Self Clinic Patients (Adults with SCD) These questions are used to assess the patient-reported health care needs and quality of service from health care providers for individuals with chronic conditions such as sickle cell disease (SCD). 18 and older ASCQ-Me Quality of Care Module ASQE-Me - Quality of Care in SCD A planned process with the objective of producing diagnostic information about the material entity that is the evaluant, by physically examining it or its proxies. Use structuring of sub-classes within MESH's "Diagnostic Techniques and Procedures" and NCIT's "Diagnostic Procedure" to inform structuring of terms in this class. OBI:0000070 yes Diagnostic Assay Diagnostic Method Diagnostic Procedure Diagnostic Technique Diagnostic Test Diagnostic Technique, Method, Test or Assay This measure is a magnetic resonance imaging (MRI) method of capturing an individual’s heart performance, and is considered the gold standard for capturing ventricular volumes and mass. It is used to detect cardiac abnormalities, such as cardiomyopathies, myocardial fibrosis, and infarction. no The American College of Radiology - North American Society for Cardiovascular Imaging - Society for Pediatric Radiology (ACR-NASCI-SPR) “Practice Parameter for the Performance and Interpretation of Cardiac Magnetic Resonance Imaging (MRI)” Amended 2014 (Resolution 39) outlines principles for performing high-quality cardiac MRI in adult and pediatric participants. Topics covered include indications, qualifications and responsibilities of personnel, safety guidelines and possible contraindications, specifications of the examination, documentation, equipment specifications, quality control and improvement, safety, infection control, and patient education. Assessment of Short-Axis Cardiac Function by MRI A form of bronchial disorder with three distinct components: airway hyper-responsiveness, airway inflammation, and intermittent airway obstruction. It is characterized by spasmodic contraction of airway smooth muscle, wheezing and dyspnea. Further work Include a copy of this term below "Comorbid Disease" and/or below "Respiratory System". MESH:D001249 yes Asthma Ataxia is a term for a group of disorders that affect co-ordination, balance and speech. Check and show which source was used for the description and whether the description was adapted from the source. Perhaps add "Cerebellar Ataxia" subclass? Further work yes The outlook for ataxia can vary considerably and largely depends on the type of ataxia you have. Some types may remain relatively stable or even improve with time, but most will get progressively worse over many years. Life expectancy is generally shorter than normal for people with hereditary ataxia, although some people can live well into their 50s, 60s or beyond. In more severe cases, the condition can be fatal in childhood or early adulthood. For acquired ataxia, the outlook depends on the underlying cause. Some cases may improve or stay the same, while other cases may get gradually worse over time and reduce life expectancy. There are many different types of ataxia, which can be divided into three broad categories: 1.Acquired ataxia - where symptoms develop as the result of trauma, a stroke, multiple sclerosis (MS), a brain tumour, nutritional deficiencies, or other problems that damage the brain or nervous system. 2.Hereditary ataxia - where symptoms develop slowly over many years and are caused by faulty genes that a person inherits from their parents; the most common type is Friedreich's ataxia. 3.Idiopathic late-onset cerebellar ataxia (ILOCA) - where the brain is progressively damaged over time for reasons that are unclear. Ataxia usually results from damage to a part of the brain called the cerebellum, but it can also be caused by damage to other parts of the nervous system. This damage can be part of an underlying condition such as MS, or can be caused by a head injury, lack of oxygen to the brain, or long-term, excessive alcohol consumption. Hereditary ataxia is caused by a faulty gene passed on by family members, who may or may not be affected. Any part of the body can be affected, but people with ataxia often have difficulties with: balance and walking; speaking; swallowing; tasks that require a high degree of control, such as writing and eating; vision. The exact symptoms and their severity vary depending on the type of ataxia a person has. Ataxia A chronic inflammatory genetically determined disease of the skin manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. Medscape: Atopic dermatitis: Author: Brian S Kim, MD; Chief Editor: William D James, MD. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0001047 no Pruritus, Eczematous changes that vary with age, Chronic and relapsing course, Early age of onset, Atopy (IgE reactivity), Xerosis, Personal history of asthma or hay fever or a history of atopic diseases in a first-degree relative in patients younger than 4 years, Onset younger than age 2 years (not used if child is aged < 4 y. Genetics, Enviromental: infections, hygiene, climate, allergens, probiotics. Incessant pruritus, xerosis, lichenification, eczematous lesions, atopy, chronic relapsing course. Atopic Dermatitis Acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes. MP:0012506 no Brain Atrophy Atrophic Brain 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. ADHD Provide source for additional info. HP:0007018 no Has three subtypes: Predominantly hyperactive-impulsive: Most symptoms (six or more) are in the hyperactivity-impulsivity categories. Fewer than six symptoms of inattention are present, although inattention may still be present to some degree. Predominantly inattentive: The majority of symptoms (six or more) are in the inattention category and fewer than six symptoms of hyperactivity-impulsivity are present, although hyperactivity-impulsivity may still be present to some degree. Children with this subtype are less likely to act out or have difficulties getting along with other children. They may sit quietly, but they are not paying attention to what they are doing. Therefore, the child may be overlooked, and parents and teachers may not notice that he or she has ADHD. Combined hyperactive-impulsive and inattentive: Six or more symptoms of inattention and six or more symptoms of hyperactivity-impulsivity are present. Most children have the combined type of ADHD. Symptoms of inattention may: Be easily distracted, miss details, forget things, and frequently switch from one activity to another.Have difficulty focusing on one thing.Become bored with a task after only a few minutes, unless they are doing something enjoyable.Have difficulty focusing attention on organizing and completing a task or learning something new.Have trouble completing or turning in homework assignments, often losing things (e.g., pencils, toys, assignments) needed to complete tasks or activities.Not seem to listen when spoken to.Daydream, become easily confused, and move slowly.Have difficulty processing information as quickly and accurately as others.Struggle to follow instructions. Children who have symptoms of hyperactivity may: Fidget and squirm in their seats.Talk nonstop.Dash around, touching or playing with anything and everything in sight.Have trouble sitting still during dinner, school, and story time.Be constantly in motion.Have difficulty doing quiet tasks or activities. Children who have symptoms of impulsivity may: Be very impatient.Blurt out inappropriate comments, show their emotions without restraint, and act without regard for consequences.Have difficulty waiting for things they want or waiting their turns in games.Often interrupt conversations or others' activities. ADHD Attention Deficit Hyperactivity Disorder Absence of any measurable level of sperm in a male's semen. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0000027 yes Hypopituitarism, hyperprolactinemia, testosterone, chemotherapy, abnormalities of the testes, physical obstruction of the posttesticular genital tracts. Absent sperm in semen Azoospermia An increased concentration of nitrogen compounds in the blood including blood urea, creatinine. 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. HP:0002157 yes Any cause of kidney injury or kidney failure. Elevation of blood urea nitrogen (BUN) and creatinine. Azotaemia Azotaemia This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. BCL11A Link to "Hereditary Persistence of fetal hemoglobin". yes Official Full Name: B-cell CLL/lymphoma 11A; Gene ID: 53335; Chromosome: 2; Position: 60451167..60553498 (GRCh38.p2); Variants B-cell CLL/lymphoma 11A BCL11A An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0003418 no muscle strain, trauma, surgery, fracture, osteoporosis, fibromialgia, spinal disc herniation. Pain in the lower back. Lower back pain. Back Pain They are unicellular prokaryotic microorganisms which generally possess rigid cell walls, multiply by cell division, and exhibit three principal forms: round or coccal, rodlike or bacillary, and spiral or spirochetal. MESH:D001419 yes Bacteria Infective endocarditis (IE) is defined as an infection of the endocardial surface of the heart, which may include one or more heart valves, the mural endocardium, or a septal effect. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0006689 yes Bacterial infection. Multi-systemic manifestations with or without heart vegetations. Infective endocarditis Bacterial Endocarditis An acute infectious disorder caused by gram positive or gram negative bacteria. Representative examples include pneumococcal, streptococcal, salmonella and meningeal infections. Remove if subclasses not added below this. Perhaps use as Disease Modifier? C2890 no Bacterial Infection The BAI is the most widely used instument for measuring anxiety. It consists of 21 items to assess how bothersome a symptom of anxiety has been for the subject over the past month. Scoring the BAI is based on a 0-3 point scale with higher scores indicating severity. Beck, A. T., Epstein, N., Brown, G., & Steer, R. A. (1988). An inventory for measuring clinical anxiety: psychometric properties. Journal of Consulting and Clinical Psychology, 56, 893-897. BAI Check and show which source was used for the description and whether the description was adapted from the source. Multiple countries and cultural groups Self Clinic Patients Spanish 17 years and older yes BAI Beck Anxiety Inventory Beck Anxiety Inventory (BAI) 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. BDI-II Check and show which source was used for the description and whether the description was adapted from the source. Multiple countries and cultural groups Self Clinic Patients Spanish 13 years and older yes BDI-II Beck Depression Inventory-II Beck Depression Inventory-II (BDI-II) The Behavior Rating Inventory of Executive Function (BRIEF) is a detailed questionnaire designed to assess executive function behaviors of children and adolescents in the school and home environments. The BRIEF is completed by parents and teachers and is a proprietary instrument available online from PAR at www4.parinc.com. BRIEF PX131102 no PhenX protocol: Executive Function - Child #131102 Proxy (Parent; Teacher) Spanish 5 to 18 years old No. The BRIEF is a proprietary instrument and is available online from PAR at www4.parinc.com. A fee is associated with the BRIEF and is dependent upon various factors, such as if the BRIEF is purchased as a kit (i.e., questionnaires, manuals, and scoring forms) or in individual components. BRIEF Behavior Rating Inventory of Executive Function An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. This term was changed from "Mental Health" to the HPO term "Behavioral Abnormality". The sub-class "Developmental Delay" was moved below the new "Neurodevelopmental Abnormality" class. HP:0000708 no Behavioral Changes Behavioral Disorders Behavioral Disturbances Behavioral Problems Behavioral Symptoms Behavioral/Psychiatric Abnormalities Behavioural/Psychiatric Abnormality Psychiatric Disorders Psychiatric Disturbances Behavioral Abnormality The actions or reactions of a person in response to a situation or stimuli. Behaviour Behavioural The relating of causes to the effects they produce. Causes are termed necessary when they must always precede an effect and sufficient when they initiate or produce an effect. Any of several factors may be associated with the potential disease causation or outcome, including predisposing factors, enabling factors, precipitating factors, reinforcing factors, and risk factors. Description needs to be modified, as it is actually the description for the term "Causality". MESH:D015984 Beliefs about Causality Cultural beliefs, such as re-incarnation and witchcraft, may influence notions on causality of sickle cell disease. Beliefs About Causes of Illness A collective cultural expression for all behavior patterns acquired and socially transmitted through symbols regarding healing. MESH:D003469 yes Background, Cultural Backgrounds, Cultural Belief Beliefs Cultural Background Cultural Backgrounds Cultures Custom Customs Beliefs About Remedies and Treatment A beta-thalassemia caused by the reduced (beta+) synthesis of the beta globin chains of the hemoglobin (Hb) tetramer. A. Cao and R. Galanello, "Beta Thalassemia", Genetics in Medicine, Vol. 12, No. 2, 2010, pp. 61 76. doi:10.1097/GIM.0b013e3181cd68ed yes Beta + Thalassemia Beta Plus-Thalassemia Beta+ Thalassemia Beta-Plus-Thalassemia Beta Plus Thalassemia A thalassemia characterized by the reduced (beta plus) or absent (beta zero) synthesis of the beta globin chains of hemoglobin, resulting in variable outcomes ranging from severe anemia to clinically asymptomatic individuals. DOID:12241 A. Cao and R. Galanello, "Beta Thalassemia", Genetics in Medicine, Vol. 12, No. 2, 2010, pp. 61 76. doi:10.1097/GIM.0b013e3181cd68ed yes Infancy Erythroblastic Anemia Beta Thalassemias Beta Type Thalassemia Beta-Thalassemia Beta-Thalassemias Hemoglobin F Disease Mediterranean Anemia Cooley's Anemia Thalassemia Intermedia Thalassemia Major Thalassemia Minor Beta Thalassemia A homozygous (B+/B+) or compound heterozygous (B0/B+) form of beta-thalassemia characterized by mild to moderate anemia which does not or only occasionally requires transfusion. ORPHA:231222 yes B+/B+ B0/B+ Beta-Thalassemia Intermedia Thalassemia Intermedia BT intermedia is caused by minor and/or silent mutations in the HBB gene (11p15.5) encoding the beta-chains of hemoglobin (Hb), in the homozygous or compound heterozygous state. Beta Thalassemia Intermedia A homozygous form of beta-thalassemia characterized by mild to moderate anemia which does not or only occasionally requires transfusion. ORPHA:231214 yes B0/B0 Beta-Thalassemia Major Cooley Anemia Cooley's Anemia Mediterranean anemia Thalassemia Major Beta Thalassemia Major The inheritance of only one mutated beta-globin allele (beta+ or beta0). This term is a sub-class of "Hemoglobin Trait" and of "Clinical Phenotype of Beta-Thalassemia". yes B+/B B0/B Beta-Thalassemia Trait Heterozygosity for Beta-Thalassemia Heterozygous Beta-Thalassemia Thalassemia Minor Usually asymptomatic other than a possible mild anemia. Beta Thalassemia Trait A beta-thalassemia caused by the absent (beta0) synthesis of the beta globin chains of the hemoglobin (Hb) tetramer. A. Cao and R. Galanello, "Beta Thalassemia", Genetics in Medicine, Vol. 12, No. 2, 2010, pp. 61 76. doi:10.1097/GIM.0b013e3181cd68ed yes Beta 0 Thalassemia Beta Zero-Thalassemia Beta-Zero-Thalassemia Beta0 Thalassemia Hb Beta Zero-Thalassemia Hb F only Beta Zero Thalassemia Members of the beta-globin family. In humans, they are encoded in a gene cluster on chromosome 11. They include epsilon-globin, gamma-globin, delta-globin and beta-globin. There is also a pseudogene of beta (theta-beta) in the gene cluster. Adult hemoglobin is comprised of two alpha globin chains and two beta-globin chains. MESH:D055544 no Beta-Globins Defined arrays of polymorphic gene sites that are inherited together across the genetic vicinity of the beta-globin gene or gene cluster on chromosome 11. Nagel, et. al. NEngl J Med. 1985 Apr 4;312(14):880-4 yes Beta-S haplotypes Beta-haplotypes; HbS haplotypes β-globin haplotype βS haplotype Haplotype designated as: Cameroon Type; Senegal Type; Cantral African Rebuplic Type (CAR or Bantu); Benin Type; Saudi, Arab, or Middle Eastern type; Indian Type; Atypical; must specifiy the method (RFLP, SNPs, etc) and number of markers used for designation. Beta-Globin Haplotype Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0004586 no Develop following chronic microvascular infarctions by sickled red blood cells that occlude the single arterial supply to the central area of the vertebral bodies,resulting in defective bone development in defective bone development develop following. Biconcavity and the bone softening of the vertebral bodies radiologically and lower back pain. Biconcave Vertebrae Fish Mouth Deformity Fish Vertebrae Step Vertebrae Biconcave Vertebral Bodies A bioassay to measure levels of bilirubin, a yellow substance found in bile produced when the liver breaks down old red blood cells. PX810900 Only label adapted PhenX protocol: Bilirubin Leve #810901 The PhenX protocol provides instructions for drawing, processing, and storing blood according to the National Health and Nutrition Examination Survey (NHANES) methods. Because there are many comparable assays for measuring bilirubin, the protocol also provides basic guidelines to aid comparability among different studies. Abnormal bilirubin levels are associated with liver disease, gallstones, pancreatic cancer, anemia, and hemolytic diseases, including sickle cell disease. Bilirubin levels can be combined with other indirect markers of hemolysis (Haptoglobin Level, Reticulocyte Count, Aspartate Aminotransferase Level, and Lactate Dehydrogenase Level) by principle component analysis (PCA) to derive a hemolytic component for sickle cell disease patients. Bilirubin Blood Test An analytical in vitro procedure used to detect, quantify and/or study the binding or activity of a biological molecule, such as an enzyme. yes Biochemical Assay SCDO A biological factor that modifies one or more aspects of sickle cell disease (SCD) (such as temporal pattern, age of onset and mortality) for specific phenotype(s) in the Phenotype class. Biological Disease Modifier The country in which the respondent was born. yes Place of Birth Birthplace SCDO The country in which the respondent's biological father was born. Birthplace of Biological Father SCDO The country in which the respondent's biological mother was born. Birthplace of Biological Mother The country or countires in which the respondent's biological grandparents were born. yes The main reason to capture the birthplaces of grandparents (maternal and paternal) is to indicate additional information about the ancestral background of the respondent. Birthplace of Grandparents SCDO The country in which the respondent's biological maternal (on the mother's side of the family) grandfather was born. Birthplace of Maternal Grandfather SCDO The country in which the respondent's biological maternal (on the mother's side of the family) grandmother was born. Birthplace of Maternal Grandmother The country or countires in which the respondent's biological parents were born. yes The main reason birthplace of parents (mother and father) is captured is to indicate additional information about the ancestral background of the respondent e.g., whether the respondent is second generation or not. Birthplace of Parents SCDO The country in which the respondent's biological paternal (on the father's side of the family) grandfather was born. Birthplace of Paternal Grandfather SCDO The country in which the respondent's biological paternal (on the father's side of the family) grandmother was born. Birthplace of Paternal Grandmother Black lesions in the retina that form at the border of perfused and nonperfused retina that are caused by the migration of hyperplastic retinal pigment epithelial cells into sensory retina. The sensory retina surrounding the lesion is atrophic. Ballas et al 2010 Am J Hematol no Diagnostic Criteria: The black sunburst lesion appears as a flat, round or oval black patch about 0.5 to 2 disc diameters in size that can be visualized with direct or indirect ophthalmoscope or by slit lamp biomicroscopy. The borders of the lesion can be stellate or spiculated in appearance. Black Sunburst Lesion Test used in the analysis of the hemic system. Only label adapted Blood Assay Blood Tests Hematologic Test Hematologic Tests Hematological Test Blood Test The amount of bilirubin found in a specific volume of blood. CMO:0000123 no Bilirubin Level Blood Bilirubin Level 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? CMO:0000036 no Blood Cell Measurement A quantification of a parameter of the chemical composition of blood. CMO:0000023 no Blood Chemistry Measurement Measurement to assess the sequential process through which multiple factors of the blood interact to form an insoluble fibrin clot. CMO:0000204 no Clotting disorders can cause a dangerous amount of bleeding or clotting. If your doctor suspects you have a clotting disorder, they may recommend one or more coagulation tests. These tests measure various proteins and how they function. Conditions that can cause coagulation problems include: liver disease; thrombophilia, which is excessive clotting; hemophilia, which is an inability to clot normally; Coagulation tests are also useful in monitoring people who take medications that affect clotting ability. Coagulation tests are sometimes recommended before surgery. Factor V Assay; This test measures Factor V, a substance involved in clotting. An abnormally low level may be indicative of liver disease, primary fibrinolysis (a breakdown of clots), or disseminated intravascular coagulation (DIC). Fibrinogen Level; Fibrinogen is a protein made by your liver. This test measures how much fibrinogen is in your blood. Abnormal results may be a sign of excessive bleeding or hemorrhage, fibrinolysis, or placental abruption, which is a separation of the placenta from the uterine wall. Other names for this test include factor I and hypo-fibrinogenemia test. Prothrombin Time (PT or PT-INR); Prothrombin is another protein produced in your liver. The prothrombin time (PT) test measures how well and how long it takes your blood to clot. It normally takes about 25 to 30 seconds. It may take longer if you take blood thinners. Other reasons for abnormal results include hemophilia, liver disease, and malabsorption. It’s also useful in monitoring those who take medications that affect clotting, such as warfarin. Results are given in the number of seconds it takes to clot. Sometimes the PT test uses a calculation called the international normalized ratio (INR) to compare results of different laboratories. The PT test is usually ordered with another clotting test called an activated partial thromboplastin time (aPTT). Another version called the model for end stage liver disease (MELD) is used to assess people who need a liver transplant. Platelet Count; Platelets are cells in the blood that help your blood clot. You may have an abnormally low number if you’re on chemotherapy, take certain medications, or have had a massive blood transfusion. Other causes of a low platelet count are celiac disease, vitamin K deficiency, and leukemia. An abnormally high number of platelets may be caused by anemia, primary thrombocythemia, or chronic myelogenous leukemia. Thrombin Time; Thrombin time measures how well fibrinogen is working. Abnormal results may be due to inherited fibrinogen disorders, liver disease, some cancers, and medications that affect clotting. Bleeding Time; This test analyzes how quickly small blood vessels in your skin close up and stop bleeding. It’s performed differently than the other blood tests A blood pressure cuff will be placed on your upper arm and inflated. Your healthcare provider will make a couple of tiny cuts on your lower arm. The cuts are not deep and generally feel like a scratch. The cuff is then deflated. Blotting paper is briefly placed on the cuts every 30 seconds until bleeding stops. Bleeding usually lasts between one to nine minutes. The test is considered safe and carries few side effects or risks. Blood Coagulation Measurement The transfer of blood components such as erythrocytes, leukocytes, platelets, and plasma from a donor to a recipient or back to the donor. This process differs from the procedures undertaken in plasmapheresis and types of cytapheresis; (plateletpheresis and leukapheresis) where, following the removal of plasma or the specific cell components, the remainder is transfused back to the donor. MESH:D016913 no Blood Component Transfusion A laboratory test to check for bacteria or other microorganisms in a blood sample. Most cultures check for bacteria. BC yes BC Culture Blood Haemoculture Hemoculture An abnormal (positive) result means that germs were identified in the blood. The medical term for this is bacteremia. This can be the result of sepsis. Sepsis is a medical emergency and requires the patient be admitted to a hospital for treatment. Sometimes, an abnormal result can be due to contamination. This means bacteria may be found, but it came from the patient's skin or from the lab equipment, instead of the blood. This is called a false-positive result. It means the patient does not have a true infection. Blood Culture 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"? CMO:0000366 no Blood Differential Leukocyte Count Blood Differential WBC Count WBC Differential Count Blood Differential White Blood Cell Count White Blood Cell Differential Count Blood Flow Assay Blood Flow Test Techniques used to measure velocity and amount of blood flow and circulation in the living system. CSP:0573-0635 no blood flow impedance Blood Flow Measurement A measurement of the blood, it's contents, cells or other factors contained within the blood. CMO:0000035 no Blood 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. CMO:0000003 PX040300 no PhenX protocol: Blood Pressure (Adult/Primary) #040301 Blood pressure is used to assess the risk of heart attack, stroke, heart failure, and kidney failure. Blood pressure reading Diastolic blood pressure Measuring blood pressure Systolic blood pressure Normal blood pressure is when the top number (systolic blood pressure) is below 120 most of the time, and the bottom number (diastolic blood pressure) is below 80 most of the time (written as 120/80 mm Hg). If your blood pressure numbers are 120/80 or higher but below 140/90, it is called pre-hypertension. Blood Pressure Measurement The introduction of whole blood or blood component directly into the blood stream. (Dorland, 27th ed) Radha Raghupathy, Deepa Manwani, and Jane A. Little, “Iron Overload in Sickle Cell Disease,” Advances in Hematology, vol. 2010, Article ID 272940, 9 pages, 2010. doi:10.1155/2010/272940 MESH:D001803 no The major and unavoidable complication of transfusions in sickle cell disease is iron overload. Transfusion is well-defined as prophylaxis (stroke) and as therapy (acute chest syndrome and stroke) for major complications of sickle cell disease and has been instituted, based on less conclusive data, for a range of additional complications, such as priapism, vaso-occlusive crises, leg ulcers, pulmonary hypertension, and during complicated pregnancies. Blood Transfusion The distance from the sole to the crown of the head with body standing on a flat surface and fully extended. EFO:0004339 PX020703 no PhenX protocol: Height - Standing Height #020703 Ask the participant to remove hair ornaments, jewelry, buns, or braids from the top of the head that interfere with the measurement. Shoes should be removed. Ask the participant to stand erect against the backboard with the body weight evenly distributed and both feet flat on the stadiometer platform (Exhibit 1). The participant’s feet should be positioned with the heels together and toes pointed slightly outward at approximately a 60 degree angle. Check to be sure that the back of the head, shoulder blades, buttocks, and heels make contact with the backboard of the stadiometer. NOTE: Depending on the overall body conformation of the individual, all four contact points - head, shoulders, buttocks, and heels - may or may not touch the stadiometer backboard (Exhibit 2). For example, elderly survey participants may have kyphosis, a forward curvature of the spine that appears as a hump at the upper back. In particular, dowager’s hump is a form of kyphosis that creates a hump at the back of the neck. Additionally, some overweight survey participants cannot stand straight while touching all four contact points to the backboard. In such instances it is important to obtain the best measurement possible according to the protocol. Stature measurements are made with the head aligned in the Frankfort horizontal plane (Exhibit 2). The head is in the Frankfort plane when the horizontal line from the ear canal to the lower border of the orbit of the eye is parallel to the floor and perpendicular to the vertical backboard (see Exhibit 2). Many people will assume this position naturally, but for some survey participants the examiner may need to gently tilt the head up or down to achieve the proper alignment. Instruct the survey participant to look straight ahead. If you cannot position the participant such that his or her trunk remains vertical above the waist, that the arms and shoulders are relaxed, and that the head is positioned in the Frankfort plane, be sure to note this in the measurement record. This information might be useful to interpret study findings. In the National Health and Nutrition Examination Study 2007-08, a comment described as "Not Straight" is noted in the stature record. Once positioned, lower the stadiometer headpiece so that it rests firmly on top of the participant’s head, with sufficient pressure to compress the hair. Instruct the survey participant to stand as tall as possible, take a deep breath, and hold this position. The act of taking a deep breath helps straighten the spine to yield a more consistent and reproducible stature measurement. Notice that the inhalation will cause the headpiece to rise slightly. As soon as the participant inhales, record the measurement. After recording the measurement, tell the participant to relax. Once the measurement is taken, raise the stadiometer headpiece and have the participant step away from the stadiometer. Adjustments for shoes and hair: When participants cannot remove hair braids, buns, and headwear that interferes with the stature measurement, measure the distance from the scalp to the top of the hair with a small ruler to the nearest 0.1 cm. If shoes are worn, measure the height of the shoe heel to the nearest 0.1 cm. A corrected height value can be calculated by subtracting these distances from the original stature measurement, thus yielding an adjusted stature value. Height Body Height 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? CMO:0000021 no Anthropometric Measurement Anthropometrics Morphometry Body Morphological Measurement A measurement of the heat in an individual’s body, which is reported in either degrees Fahrenheit or Celsius. PX810100 no PhenX protocol: Body Temperature - Oral Thermometers #810102 PhenX protocol: Body Temperature - Tympanic Thermometers #810101 Body temperature is associated with the presence or absence of various illnesses and infections and having an abnormal temperature can be an indication for additional medical testing. Body Temperature The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms. Add these terms from PhenX?: - Weight Loss/Gain - Birth Weight D001835 no A sudden, unexpected change in weight can be a sign of a medical problem. Causes for sudden weight loss can include: Thyroid problems; Cancer; Infectious diseases; Digestive diseases; Certain medicines. Sudden weight gain can be due to medicines, thyroid problems, heart failure, and kidney disease. Weight Body Weight 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. HP:0002659 no Osteoporosis, cancer, inherited bone disorders, bone cyst. Abnormal Susceptibility to Fractures Increased Bone Fragility Bone Fragility An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Provide source for additional info. Perhaps include below "Pain" under "Nervous System"? HP:0002653 no 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 Bone Pain An increase in bone density, such that the bone is more radiopaque than normal on a plain film. Replace with "Osteosclerosis" ? no Bone Sclerosis A noninvasive method to assess the endothelial dysfunction in the brachial artery. BAUI yes Flow-mediated dilation (FMD) of the brachial artery is a high-frequency ultrasound method to obtain imaging of the brachial artery to assess endothelial function. Endothelial function has been associated as a factor in the pathology of various medical conditions, such as congestive heart failure, atherosclerosis, and hypertension. BAUI Brachial Artery Ultrasound Imaging 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). HP:0002067 no Slow Movements Bradykinesia is a major symptom of Parkinson's disease. Bradykinesia A brain abscess is a collection of pus, immune cells, and other material in the brain, usually from a bacterial or fungal infection. HP:0030049 no Brain abscesses commonly occur when bacteria or fungi infect part of the brain. As a result, swelling and irritation (inflammation) develop. Infected brain cells, white blood cells, live and dead bacteria, or fungi collect in an area of the brain. Tissue forms around this area and creates a mass, or abscess. They can arise from the following: lung infection, A weakened immune system (such as in AIDS patients), Chronic disease, such as cancer, Drugs that suppress the immune system (corticosteroids or chemotherapy), Congenital heart disease. Symptoms may develop slowly, over a period of 2 weeks, or they may develop suddenly. They may include: Changes in mental status, such as confusion, slow response or thinking, unable to focus, or sleepiness, Decreased ability to feel sensation, Fever and chills, Headache, seizures, or stiff neck, Language problems, Loss of muscle function, typically on one side, Vision changes, Vomiting, Weakness A brain abscess is a medical emergency. Pressure inside the skull may become high enough to be life threatening. You will need to stay in the hospital until the condition is stable. Some people may need life support. Medicine, not surgery, is recommended if you have: A small abscess (less than 2 cm); An abscess deep in the brain; An abscess and meningitis; Several abscesses (rare); Shunts in the brain for hydrocephalus (in some cases the shunt may need to be removed temporarily or replaced); An infection called toxoplasmosis in a person with HIV; You may be prescribed several different types of antibiotics to make sure treatment works. Antifungal medicines may also be prescribed if the infection is likely caused by a fungus. Surgery is needed if: Increased pressure in the brain continues or gets worse; The brain abscess does not get smaller after medicine; The brain abscess contains gas (produced by some types of bacteria); The brain abscess might break open (rupture); Surgery consists of opening the skull, exposing the brain, and draining the abscess. Laboratory tests are often done to examine the fluid. This helps identify the cause of the infection, so that the right antibiotics or antifungal medicine can be prescribed. Needle aspiration guided by CT or MRI scan may be needed for a deep abscess. During this procedure, medicines may be injected directly into the mass. Certain diuretics and steroids may also be used to reduce the swelling of the brain. Brain Abscess Voltages between parts of the brain that are detectable with an electroencephalograph. 0487-1238 no Brain Oscillography Brain electrophysiological activity EEG activity Brain Electrical Activity Originally used to describe patients with cancer pain who were maintained on a stable dose of analgesics, breakthrough pain was defined as a flair-up of sudden pain unresponsive to usual therapy. Such a flare-up is usually sudden and incidental, and can last from a few seconds to a few hours. There are currently no data that clearly describe or can be used to define breakthrough pain in SCD. Evidence-Based Management of Sickle Cell Disease: Expert Panel Report (EPR), 2014 yes Breakthrough Pain The Brief IPQ has 9 items, 8 new items from the IPQ plus a causal question. All of the items except the causal question are rated using a 0-to-10-response scale. Five of the items assess Cognitive Illness Representations: Consequences (Item 1), Timeline (Item 2), Personal Control (Item 3), Treatment Control (Item 4), and Identity (Item 5). Two of the items assess Emotional Representations: Concern (Item 6) and Emotions (Item 8). One item assesses Illness Comprehensibility (Item 7). Assessment of the Causal Representation is by an open-ended response item adapted, which asks patients to list the three most important causal factors in their illness (Item 9). Responses to the causal item can be grouped into categories such as stress, lifestyle, hereditary, etc, determined by the particular illness studied, and categorical analysis can then be performed. Broadbent E, Petrie KJ, Main J, Weinman, J. (2006). The brief illness perception questionnaire. Journal of Psychosomatic Research, 60, 631-637. B-IPQ Check and show which source was used for the description and whether the description was adapted from the source. Multiple countries and cultural groups Self Clinic Patients Many Good psychometric properties, widely used, has been translated into several languages. Adults yes B-IPQ Brief Illness Perception Questionnaire Brief Illness Perception Questionnaire (B-IPQ) Brief RCOPE is a 14-item instrument. Responses on the Brief RCOPE indicate the frequency with which participants have used R/S coping behaviors on a Likert scale of 1 ("not at all") to 4 ("a great deal.") The scale has been used to examine positive and negative religious coping, including in teens with SCD. Pargament K, Koenig H, Perez L. The many methods of religious coping: development and initial validation of the RCOPE. J Clin Psychol. 2000;56:519-543. Check and show which source was used for the description and whether the description was adapted from the source. Self; Proxy (Parent report) Children with SCD and their parents. Demonstrated validity in SCD studies. Children and adults Brief RCOPE A change in pulmonary function in response to inhaled bronchodilator medications. BDR yes BDR Bronchodilator Responsiveness A test to assess an individual's change in pulmonary function in response to inhaled bronchodilator medications. yes PhenX protocol: Bronchodilator Responsiveness (BDR) #090301 A series of spirometry maneuvers is performed to obtain acceptable and reproducible results. An inhaled bronchodilator medication is administered, and a second series of spirometry maneuvers is performed. To assess bronchial hyper-responsiveness, which is often seen in asthma and chronic obstructive pulmonary disease. BDR Test Bronchodilator Responsiveness Test Physical surroundings or conditions of a building, or collection of buildings and the influence of these factors on the individual. MESH:D006272 yes Health Facility Environment Built Environment Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy). HP:0011410 no Caesarian Section A disease characterized by abnormal and uncontrolled cell division. OBI:1110053 no Malignancy Malignant Neoplasia Malignant Neoplasm Malignant Tumor Malignant Tumour Oncology Cancer A highly-sensitive (in the picomolar range, which is 10,000-fold more sensitive than conventional electrophoresis) and efficient technique that allows separation of proteins; nucleic acids; and carbohydrates. (Segen, Dictionary of Modern Medicine, 1992) D019075 no Capillary Electrophoreses Capillary Zone Electrophoreses Capillary Zone Electrophoresis Capillary Electrophoresis An instrument which, by means of a cathode-ray oscillograph, projects an electrocardiographic record on a luminous screen. no Cardioscope Any value resulting from the quantification of a morphological or physiological parameter pertaining to the heart and/or blood vessels. CMO:0000001 no Cardiovascular Measurement Anatomical system that has as its parts the heart and blood vessels. UBERON:0004535 no CV system Cardiovascular System Clinical presentations that may be followed by evaluative studies that eventually lead to a diagnosis. MESH:D002363 no Case Histories Case Studies Case Study Case Reports Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group. Case-Control Studies A flexible, tubular device that is used to carry fluids into or from a blood vessel, hollow organ, or body cavity. Add info (rdfs:comment) about how catheters are used in different therapeutics. Link relevant Therapeutics term(s) to this term via "has medical device". MESH:D057785 Only label adapted Cannula Cannulas Catheters Catheter A drug adverse event that is caused by a drug administration. Here a causal effect is established between the drug administration and the adverse event. OAE:0000095 no Causal Adverse Drug Event A causal adverse drug event that is induced by a drug-drug interaction. OAE:0000179 no Causal Adverse Drug Event Due to Drug-Drug Interaction A causal adverse drug event that is induced by a food-drug interaction. OAE:0000180 no Causal Adverse Drug Event Due to Food-Drug Interaction A causal adverse drug event that is induced by genetic predisposition. OAE:0000181 no Causal Adverse Drug Event Due to Genetic Predisposition A causal adverse drug event due to genetic predisposition that is specifically induced by SNP. OAE:0000182 no Causal Adverse Drug Event Due to SNP A bioassay to measure cell free hemoglobin concentration. Only label adapted The PhenX protocol provides instructions for drawing, processing and storing blood according to the National Health and Nutrition Examination Survey (NHANES) methods. As there are many comparable assays for measuring cell free hemoglobin levels, the protocol also provides basic guidelines to aid comparability among different studies. Cell free hemoglobin levels can be used to diagnose or monitor the severity of hemolytic anemia that is often associated with sickle cell disease, thalassemia and other disorders. Cell Free Hemoglobin Assay Cell Free Hemoglobin Blood Test The determination of the amount of free hemoglobin present in a sample. If wanting to include "Plasma Hemoglobin Level" i the future, see CMO:0000588 for a description. synonyms: Plasma Free Hemoglobin (PFHb) Level, Plasma Hemoglobin Level. NCIT:C127617 Only label adapted Cell free hemoglobin levels can be used to diagnose or monitor the severity of hemolytic anemia that is often associated with sickle cell disease, thalassemia and other disorders. Cell Free Haemoglobin Level Cell Free Hemoglobin Concentration Extracellular Hb Extracellular Hemoglobin Free Haemoglobin Measurement Free Hemoglobin Measurement HGBFR Reference range for healthy individuals: up to 5 mg/dL hemoglobin. Cell Free Hemoglobin Level 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. DOID:9220 no Central sleep apnea may occur as a result of other conditions, such as heart failure and stroke. Sleeping at a high altitude also may cause central sleep apnea Central Sleep Apnea Cerebellar haemorrhage is a form of intracranial haemorrhage. Provide more detailed description. Provide source for additional info. Need to include this term mentioned here to the SCDO: obstructive hydrocephalus no Is most frequently seen in the setting of poorly controlled hypertension, although this can of course also be secondary to an underlying lesion (e.g. tumour or vascular malformation) or due to supratentorial surgery (see remote cerebellar haemorrhage). Clinical presentation depends on the size and speed of enlargement of the haemorrhage. Unlike pontine haemorrhages which are usually obvious to both the clinician and the patient, cerebellar haemorrhages, if small enough, can present relatively subtly. Cerebellar signs (e.g. ataxia, nystagmus). Larger bleeds can impair consciousness and obstruct the fourth ventricle resulting in obstructive hydrocephalus. As with other haemorrhagic strokes, CT is usually the first, and often the only imaging investigation obtained. As with other acute haemorrhages, cerebellar haemorrhages appear as regions of hypderdensity within the cerebellar hemispheres. Extension into the fourth ventricle or subarachnoid space is relatively common. Cerebellar Hemorrhage A ballooning or dilatation arising from a weakened area in the wall of a blood vessel in the brain. Check and show which source was used for the description and whether the description was adapted from the source. HP:0004944 yes Risk factors include: High blood pressure (hypertension), Hardening of the arteries (atherosclerosis), Bloodstream infections, Cigarette smoking Symptoms of an unruptured brain aneurysm may include: Headaches, Dizziness, Eye pain, Vision deficits (problems with seeing), Double or blurry vision, Seizures. A rupturing brain aneurysm may have any of the symptoms listed above, as well as: Sudden, severe headache, Nausea, Vomiting, Loss of consciousness, Facial pain, Numbness, Weakness, Paralysis. Brain Aneurysms Cerebral Artery Aneurysm Intracranial Aneurysms About 46 percent of patients do not survive the first hemorrhage, and if the aneurysm is not repaired in time and a second hemorrhage occurs, about 80 percent of patients die. Brain aneurysms are treated using one or more of the following methods, depending on the location and size of the aneurysm and whether or not it has ruptured, as well as the individual patient’s needs: Microsurgical clipping , Endovascular coiling , Flow diversion with stents , Artery occlusion and bypass, Observation. Cerebral Aneurysm Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. Atrophy may be progressive over time. HP:0002059 no Diseases that cause cerebral atrophy include: stroke and traumatic brain injury, Alzheimer's disease, Pick's disease, and fronto-temporal dementia, cerebral palsy, in which lesions (damaged areas) may impair motor coordination, Huntington's disease, and other hereditary diseases that are associated with genetic mutations, leukodystrophies, such as Krabbe disease, which destroy the myelin sheath that protects axons, mitochondrial encephalomyopathies, such as Kearns-Sayre syndrome, which interfere with the basic functions of neurons, multiple sclerosis, which causes inflammation, myelin damage, and lesions in cerebral tissue, infectious diseases, such as encephalitis, neurosyphilis, and AIDS, in which an infectious agent or the inflammatory reaction to it destroys neurons and their axons. Symptoms of cerebral atrophy: Many diseases that cause cerebral atrophy are associated with dementia, seizures, and a group of language disorders called the aphasias. Dementia is characterized by a progressive impairment of memory and intellectual function that is severe enough to interfere with social and work skills. Memory, orientation, abstraction, ability to learn, visual-spatial perception, and higher executive functions such as planning, organizing, and sequencing may also be impaired.Seizures can take different forms, appearing as disorientation, repetitive movements, loss of consciousness, or convulsions. Aphasias are a group of disorders characterized by disturbances in speaking and understanding language. Receptive aphasia causes impaired comprehension. Expressive aphasia is reflected in odd choices of words, the use of partial phrases, disjointed clauses, and incomplete sentences. Cortical Atrophy Degeneration of Cerebrum Supratentorial Atrophy Cerebral Atrophy Stroke Risk Test Cerebral Blood Flow Assay Cerebral Flow Test A value equal to the total volume flow divided by the cross-sectional area of the vascular bed. MESH:D001783 no Velocity, Blood Flow Cerebral Blood Flow Velocity Cerebral Collateral Flow Abnormal accumulation of fluid in the brain. Provide source for additional info. HP:0002181 no The accumulation of excess fluid in a fluid compartment. Edema can be caused by a variety of factors, including conditions that affect osmotic pressure, such as hypotonic fluid overload, which allows the movement of water into the intracellular space, or hypoproteinemia, which decreases the concentration of plasma proteins and permits the passage of fluid out of the blood vessels into the tissue spaces. Other factors include poor lymphatic drainage; conditions that cause increased capillary pressure, such as excessive retention of salt and water and heart failure; and conditions that increase capillary permeability, such as inflammation Brain Swelling Swelling of the Brain Brain Edema Brain Oedema Cerebral Oedema Cerebral Edema Cerebral Function Assay Cerebral Function Test Hemorrhage into the parenchyma of the brain. Perhaps rather use MESH term. Get synonyms from MESH term. Provide source for additional info. HP:0001342 no High blood pressure is the most common cause of intracerebral hemorrhage. In younger people, another common cause is abnormally formed blood vessels in the brain. Other causes include:head injury or trauma, ruptured cerebral aneurysm (weak spot in a blood vessel that bursts), arteriovenous malformation (a grouping of malformed blood vessels in the brain that disrupts normal blood flow), use of blood thinners, bleeding tumors, cocaine use (can cause severe hypertension and lead to hemorrhage), bleeding disorders (e.g., hemophilia, sickle cell anemia). Sudden weakness, tingling, or paralysis in the face, arm, or leg, especially if it occurs on only one side of the body, sudden onset of severe headache, trouble swallowing, trouble with vision in one or both eyes, loss of balance and coordination, dizziness, trouble with language skills (reading, writing, speaking, understanding), nausea, vomiting, apathy, sleepiness, lethargy, loss of consciousness, confusion, delirium. Cerebral Hemorrhage Inflammation of the blood vessels within the brain. Provide source for additional info. HP:0005318 no Cranial arteritis is the most frequent form of vasculitis affecting persons over 50 years of age. In Europe prevalences of 15-30/100,000 and an incidence of 18/100,000 have been reported. Major symptoms of cerebral angiitis are stroke, headache and encephalopathy. Other symptoms include seizures, cranial nerve palsies or myelopathies. Inflammatory signs and symptoms in particular may lead to the early suspect of vasculitis. The differential diagnosis includes a wide range of conditions, such as degenerative vasopathies, embolic diseases, or coagulation disorders. Cerebral Vasculitis Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow. HP:0005305 no It affects about 5 people in 1 million each year. The risk for this kind of stroke in newborns is greatest during the first month. Overall, about 3 out of 300,000 children and teens up to age 18 will have a stroke. Physical symptoms include: Headache, blurred vision, fainting or loss of consciousness, loss of control over movement in part of the body, seizures, coma. Blood Clot in Cerebral Vein Cerebral Thrombosis Cerebral Vein Thrombosis Cerebral Venous Thrombosis Cerebral Venous Sinus Thrombosis An increased white blood cell count in the cerebrospinal fluid. HP:0012229 no May be caused by infectious and noninfectious processes. Polymorphonuclear pleocytosis indicates acute suppurative meningitis. Mononuclear cells are seen in viral infections (meningoencephalitis, aseptic meningitis), syphilis, neuroborreliosis, tuberculous meningitis, multiple sclerosis, brain abscess and brain tumors. CSF Pleocytosis Cerebrospinal Fluid Pleocytosis Cerebrovascular Hemodynamics 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. HP:0002341 no Arises from degenerative changes that occur in the spine as we age. These degenerative changes in the disks are often called arthritis or spondylosis. Rheumatoid arthritis. Rheumatoid arthritis is an autoimmune disease. This means that the immune system attacks its own tissues. In rheumatoid arthritis, immune cells attack the synovium, the thin membrane that lines the joints. As the synovium swells, it may lead to pain and stiffness and, in severe cases, destruction of the facet joints in the cervical spine. When this occurs, the upper vertebra may slide forward on top of the lower vertebra, reducing the amount of space available for the spinal cord.Injury. An injury to the neck - such as from a car accident, sports, or a fall - may also lead to myelopathy.For example, a "rear end" car collision may result in hyperextension, a backward motion of the neck beyond its normal limits, or hyperflexion, a forward motion of the neck beyond its normal limits. Because these types of injuries often affect the muscles and ligaments that support the vertebrae, they may lead to spinal cord compression. Changes in reflexes - including the presence of hyper-reflexia, a condition in which reflexes are exaggerated or overactive. Numbness and weakness in the arms, hands, and fingers.Trouble walking, loss of balance, or weakness in the legs. Atrophy - a condition in which muscles deteriorate and shrink in size. Cervical Cord Compression Myelopathy Cervical Spondylotic Myelopathy Spinal Cord Compression Cervical Cord Compression The analysis of a sample material, called an analyte, using a set of chemical procedures. yes The objective is to determine the identity of the analyte's unknown components, isolate them and quantify them. Chemical Assay A medical imaging assessment of the chest wall, airways, lungs, pulmonary vessels, heart, mediastinum, and pleura. PX810200 no PhenX protocol: Chest X-ray #810201 This measure is used to show the size, shape, and structures of the chest. Information from this measure is used to determine the presence and etiology of disorders that involve the chest, evaluate the signs and symptoms potentially related to the respiratory, cardiovascular and upper gastrointestinal systems and the musculoskeletal system of the thorax, and to follow the course of disease. Chest Radiograph Chest X-Ray The Child Health Questionnaire (CHQ) is a family of general quality of life surveys that measures 14 unique physical and psychosocial concepts. The parent form is available in 2 lengths - the CHQ-PF50 and the CHQ-PF28. The child self-reported version of the CHQ consists of 87 items (CHQ-CF87). Landgraf, J. M., Abetz, L., and Ware, J. E. (1996). Child health questionnaire (CHQ): A user's manual (1st Ed.). Boston, M.A.: The Health Institute, New England Medical Center. Panepinto JA, O'Mahar KM, DeBaun MR, Rennie KM, Scott JP. Validity of the child health questionnaire for use in children with sickle cell disease. J Pediatr Hematol Oncol. 2004 Sep;26(9):574-8. Wrotniak BH, Schall JI, Brault ME, Balmer DF, Stallings VA. Health-related quality of life in children with sickle cell disease using the child health questionnaire. J Pediatr Health Care. 2014 Jan-Feb;28(1):14-22. doi: 10.1016/j.pedhc.2012.09.004. Epub 2012 Nov 8. CHQ Check and show which source was used for the description and whether the description was adapted from the source. Multiple countries and cultural groups Self, Proxy Healthy Children; Children with Medical Conditions French, isiXhosa, isiZulu, Portuguese, Punjabi, Sesotho, Temil, Telugu, Gujarati Demonstrated validity with SCD populations; at least two publications using the measure in SCD. 5 to 18 years (child report 10 - 18 years; parent report 5 - 18 years) yes CHQ Child Health Questionnaire Child Health Questionnaire (CHQ) A parent's highest level of education obtained, as reporsted by the child. PX210200 yes PhenX protocol: Child-Reported Parental Education Attainment #210201 Parental education is correlated with income and job attainment and can be used as a proxy for assessing socioeconomic status in the family of origin. Many studies show that socioeconomic status at different points in life is associated with diverse aspects of health and cognition. Child-Reported Parental Education Attainment The CDI-2 is a 27-item self-report scale that helps to assess cognitive, affective and behavioral signs of depression in children and adolescents. Each item is scored on a scale from 0 to 2. Kovacs, M. (1985). The Children's Depression, Inventory (CDI). Psychopharmacology Bulletin, 21, 995-998. CDI 2 CDI-2 Check and show which source was used for the description and whether the description was adapted from the source. Multiple countries and cultural groups Self Clinic Patients 7 to 17 years yes CDI 2 CDI-2 Children's Depression Inventory 2 Children's Depression Inventory-2 Children's Depression Inventory 2 (CDI 2) This seeks to measure how much children and adolescents believe their own health-related behaviors will influence their health. It is a 20 item scale that contains 3 additional practice items and is a yes or no format. It contains 3 factors: belief in internality, belief in powerful others and belief in chance. There is a shorter 9-item version of the scale which is comparable to the full version and adapted for use in Egyptian children. Abdel Gawwad E, Ahmed MH, Kamal MM. Developing and testing of an Egyptian version of Children's Health Locus of Control scale. J Egypt Public Health Assoc. 1999; 74(1-2):139-73. Deaux EB. Health Locus of Control in Chukotka children. Alaska Med. 1992 Jul-Sep; 34(3):135-9. Parcel G.S. and Meyer M.P. (1978) Development of an instrument to measure children's health locus of control. Health Education Monographs, 6, 149-159. CHLC Check and show which source was used for the description. yes Multiple countries and cultural groups Self Healthy Children; Children with Medical Conditions English, Russian, a 9- item shorter Egyptian version Has adequate reliability, construct validity and internal consistency. Children and Adolescents no CHLC Children's Health Locus of Control Scale Children's Health Locus of Control Scale (CHLC) Surgical removal of the gallbladder. MESH:D002763 Cholecystectomies Cholecystectomy CVS Either a needle is inserted through the woman's abdomen or a tube inserted through the woman's vagina and cervix is used to obtain a tissue sample from the placenta. CVS Performed between the tenth and twelfth week of pregnancy. Chorionic Villus Sampling A condition that co-exists or follows from sickle cell disease and that has a slow, creeping onset, slow progress and long continuance of disease manifestations. Evidence-Based Management of Sickle Cell Disease, Expert Panel Report, 2014. Used info in "Evidence-Based Management of Sickle Cell Disease, Expert Panel Report, 2014" to link to relevant phenotypes. yes Chronic complications of SCD can affect almost any organ, and certain acute complications, such as stroke and priapism, often evolve into chronic phases that require special approaches to management. Chronic Complications of Sickle Cell Disease Chronic kidney disease (CKD) is defined as either having a glomerular filtration rate (GFR) of <60 mL/min/1.73 mL for >3 months with or without kidney damage or having evidence of kidney damage for 3 months, with or without decreased GFR. Evidence of kidney damage includes pathologic abnormalities or markers of kidney damage (i.e., proteinuria) independent of cause. Kidney disease severity is classified into five stages according to the level of GFR and presence of albuminuria. NHLBI SCD New guidelines 2014. CKD Move some info from the description to a comment. NHLBI SCD New guidelines 2014. yes When assessed by albuminuria, often presents in second decade of life in sickle cell disease and prevalence increases with age. CKD is classified using a combination of GFR and ACR categories Sickle cell disease, hypertension, diabetes, polycystic kidney disease, glomerulonephritis, various other causes. Reduced glomerular filtration, elevated creatinine, anemia, bone disease, uremia. Chronic Renal Failure Chronic Kidney Disease Is a long-term condition where the kidneys don't work as well as they should. CKD There is conflicting positioning of this term in different ontologies. Need an expert to decide descriptions and positioning of this and related terms. no High blood pressure, diabetes , high cholesterol, kidney infections, kidney inflammation, polycystic kidney disease, blockages in the flow of urine and regular use of certain medicines. CKD Chronic Kidney Injury This pain is usually described as burning, numb, tingling, lancinating, shooting, or paroxysmal in nature and is associated with a sensation of pins and needles. Its severity is also enhanced by exposure to either cold or heat. Evidence-Based Management of Sickle Cell Disease: Expert Panel Report (EPR), 2014 yes This pain can be secondary to either peripheral or central nerve injury or nerve dysfunction. SCD-related neuropathic pain has two etiologies. The first is tissue damage secondary to occlusion of blood vessels that supply the nerves as can be found in mental nerve neuropathy and spinal cord infarction.290-292 The second seems to be chronic pain. Persistent chronic pain, the resulting inflammation, and/or pain management seem to lead to neuropathic pain. Chronic Neuropathic Pain This pain occurs in a specific tissue or organ and is usually described as constant and deep, nagging, and achy in nature. Evidence-Based Management of Sickle Cell Disease: Expert Panel Report (EPR), 2014 Evidence-Based Management of Sickle Cell Disease: Expert Panel Report (EPR), 2014 yes Such as avascular necrosis (AVN) of the hips, or leg ulcers. This pain can occur in the chest, back, abdomen, extremities, neck, or head and is difficult to treat. Chronic Pain in a Specific Tissue or Organ Intractable chronic pain without obvious pathology where the only complaint is the patient's self-report of pain that does not go away. Evidence-Based Management of Sickle Cell Disease: Expert Panel Report (EPR), 2014 no This type of chronic sickle cell pain may be an extension of recurrent acute painful episodes. Therefore, early and aggressive intervention in treating acute sickle cell pain may reduce the development of chronic pain. Chronic Pain often of Unclear Etiology Restrictive lung disease is a category of extrapulmonary, pleural, or parenchymal respiratory diseases that restrict lung expansion, resulting in a decreased lung volume, an increased work of breathing, and inadequate ventilation and/or oxygenation. Pulmonary function test demonstrates a decrease in the forced vital capacity. Wikipedia was used as the description source. Perhaps rather use NCIT's "Restrictive Lung Disease", and then use wikipedia as source for additional info. Did not find "Chronic Restrictive Lung Disease" in ontologies, but did find "Chronic Obstructive Lung Disease"...perhaps there was confusion between these terms when giving the name? HP:0002091 Restrictive Lung Disease Restrictive Ventilatory Defect The list is not exhaustive. Chronic Restrictive Lung Disease Pain that does not resolve and lasts for more than three months. Evidence-Based Management of Sickle Cell Disease: Expert Panel Report (EPR), 2014 no SCD-Associated Chronic Pain Chronic Sickle Cell Pain Sickle cell pain management that aims to restore function and improve the quality of life. Evidence-Based Management of Sickle Cell Disease, Expert Panel Report, 2014. Evidence-Based Management of Sickle Cell Disease, Expert Panel Report, 2014. yes Chronic Sickle Cell Pain Treatment The goals of providing adequate pain relief to improve functionality and quality of life must be balanced by the need to minimize the risk of abuse, misuse, or diversion of opioids—medications which are a mainstay in managing chronic pain in people with SCD. Believing the patient’s report of pain is critical to optimizing therapeutic outcomes and achieving adequate pain relief and maintaining or improving functionality and the person’s quality of life. Chronic Sickle Cell Pain Management The respondent's cigarette smoking status in his or her entire life. yes PhenX protocol: Cigarette Smoking Status - Adolescent #030603 PhenX protocol: Cigarette Smoking Status - Adult #030604 Can be used to assess the participant’s lifetime exposure to cigarette use, it determines smoking status, i.e., if they are a Current Every-Day Smoker or a Current Some-Day Smoker, a Former Smoker, or a Non Smoker or a Never Smoker. Cigarette Smoking Status Meteorological conditions, including temperature, precipitation, and wind, that characteristically prevail in a particular region; includes regions of the earth having particular meteorological conditions. 1035-6799 no Antarctic Climate Arctic Climate Cold Climate Desert Climate Hot Climate Tropical Climate Climatic Variables Seasons Climate Process of substituting a symbol or code for a term such as a diagnosis or procedure. (from Slee's Health Care Terms, 3d ed.) Add specific Sickle Cell Disease related codes as instances/individuals below *Clinical Coding*? (see ICD-10 codes here: www.icd10data.com/ICD10CM/Codes/D50-D89/D55-D59/D57-) MESH:D059019 no Clinical Coding The capability to perform acceptably those duties directly related to patient care; Health care services are respectful of and responsive to the health beliefs, practices and cultural and linguistic needs of diverse patients. MeSH: Culturally Competent Care; MeSH: Clinical Competence The description is a combination of the descriptions given for "Clinical Competence" and "Culturally Competent Care" in MESH. Perhaps the two different terms should be described separately? MESH:D002983 yes Clinical Competencies Clinical Competency Clinical Skill Competencies, Clinical Competency, Clinical Skill, Clinical Skills, Clinical Culturally Competent Care: The provider and the patient each bring their individual learned patterns of language and culture to the health care experience which must be transcended to achieve equal access and quality health care. *** The term was merged. Clinical Competence Work that consists of a conference of physicians on their observations of a patient at the bedside, regarding the physical state, laboratory and other diagnostic findings, clinical manifestations, results of current therapy, etc. A clinical conference usually ends with a confirmation or correction of clinical findings by a pathological diagnosis performed by a pathologist. "Clinical conference" is often referred to as a "clinico-pathological conference." MESH:D016429 no Clinico-Pathologic Conference Clinico-Pathological Conference Clinical Conference Clinical Diagnostic Questionnaire A physician administered examination to assess peripheral neuropathy. PX130200 no PhenX protocol: Clinical Neuropathy Assessment #130201 A clinical neuropathy assessment measures the severity of symptoms and disability associated with peripheral neuropathy caused by a number of disorders including tumors, infections, autoimmune diseases and inherited disorders such as Charcot-Marie-Tooth disease. Clinical Neuropathy Assessment Clinical Phenotype of Beta Thalassemia A work that reports on the results of a research study to evaluate interventions or exposures on biomedical or health-related outcomes. The two main types of clinical studies are interventional studies (clinical trials) and observational studies. While most clinical studies concern humans, this publication type may be used for clinical veterinary articles meeting the requisites for humans. MESH:D000068397 no Clinical Study Works about research studies that evaluate interventions or exposures on biomedical or health-related outcomes. The two main types of clinical studies are interventional studies (clinical trials) and observational studies. Term to be adapted as necessary to match EDDA Study Designs Taxonomy MESH:D000068456 no Clinical Studies as Topic A work that reports on the results of a clinical study in which participants are assigned to receive one or more interventions so that researchers can evaluate the interventions on biomedical or health-related outcomes. The assignments are determined by the study protocol. Participants may receive diagnostic, therapeutic, or other types of interventions. While most clinical trials concern humans, this publication type may be used for clinical veterinary articles meeting the requisites for humans. MESH:D016430 no Intervention Study Clinical Trial Work that is the report of a pre-planned, usually controlled, clinical study of the safety and efficacy of diagnostic, therapeutic, or prophylactic drugs, devices, or techniques based on a small number of healthy persons and conducted over the period of about a year in either the United States or a foreign country. MESH:D017426 no Clinical Trial, Phase 1 Clinical Trial, Phase I Work that is a report of a pre-planned, usually controlled, clinical study of the safety and efficacy of diagnostic, therapeutic, or prophylactic drugs, devices, or techniques based on several hundred volunteers, including a limited number of patients, and conducted over a period of about two years in either the United States or a foreign country. MESH:D017427 no Clinical Trial, Phase 2 Clinical Trial, Phase II Work that is a report of a planned post-marketing study of diagnostic, therapeutic, or prophylactic drugs, devices, or techniques that have been approved for general sale after clinical trials, phases I, II, and III. These studies, conducted in the United States or a foreign country, often garner additional data about the safety and efficacy of a product. MESH:D017429 no Clinical Trial, Phase 4 Clinical Trial, Phase IV Work that is a report of a pre-planned, usually controlled, clinical study of the safety and efficacy of diagnostic, therapeutic, or prophylactic drugs, devices, or techniques after phase II trials. A large enough group of patients is studied and closely monitored by physicians for adverse response to long-term exposure, over a period of about three years in either the United States or a foreign country. MESH:D017428 no Clinical Trial, Phase 3 Clinical Trial, Phase III Works about pre-planned studies of the safety, efficacy, or optimum dosage schedule (if appropriate) of one or more diagnostic, therapeutic, or prophylactic drugs, devices, or techniques selected according to predetermined criteria of eligibility and observed for predefined evidence of favorable and unfavorable effects. This concept includes clinical trials conducted both in the U.S. and in other countries. Clinical Trials as Topic A direct form of psychotherapy based on the interpretation of situations (cognitive structure of experiences) that determine how an individual feels and behaves. It is based on the premise that cognition, the process of acquiring knowledge and forming beliefs, is a primary determinant of mood and behavior. The therapy uses behavioral and verbal techniques to identify and correct negative thinking that is at the root of the aberrant behavior. CBT MESH:D015928 no Therapies CBT Cognition Therapies Cognition Therapy Cognitive Behavioral Therapies Cognitive Behavioral Therapy Cognitive Behaviour Therapy Cognitive Psychotherapies Cognitive Psychotherapy Cognitive Therapies Cognitive Therapy Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics. Cohort Studies A test which produces colour change in the sample. CHMO:0002580 no Colorimetric Test A profound state of unconsciousness associated with depressed cerebral activity from which the individual cannot be aroused. The specific type of Blood Test (s) used to diagnose a coma should be specified. Named Individual removed (is diagnosed by): As in any neurologic condition, history and examination form the cornerstone of diagnosis when the patient is in a coma; however, history must be obtained from family, friends, or EMS. The Glasgow Coma Scale is a system of examining a comatose patient. It is helpful for evaluating the depth of the coma, tracking the patient's progress, and predicting (somewhat) the ultimate outcome of the coma. The Glasgow Coma Scale assigns a different number of points for exam results in three different categories: opening the eyes, verbal response (using words or voice to respond), and motor response (moving a part of the body). Fifteen is the largest possible number of total points, indicating the highest level of functioning. The highest level of functioning would be demonstrated by an individual who spontaneously opens his/her eyes, gives appropriate answers to questions about his/her situation, and can carry out a command (such as "move your leg" or "nod your head"). Three is the least possible number of total points and would be given to a patient for whom not even a painful stimulus is sufficient to provoke a response. In the middle are those patients who may be able to respond, but who require an intense or painful stimulus, and whose response may demonstrate some degree of brain malfunctioning (such as a person whose only response to pain in a limb is to bend that limb in toward the body). When performed as part of the admission examination, a Glasgow score of three to five points often suggests that the patient has likely suffered fatal brain damage, while eight or more points indicates that the patient's chances for recovery are good. Expansion of the pupils and respiratory pattern are also important. Metabolic causes of coma are diagnosed from blood work and urinalysis to evaluate blood chemistry, drug screen, and blood cell abnormalities that may indicate infection. Anatomic causes of coma are diagnosed from CT (computed tomography) or MRI (magnetic resonance imaging) scans. MEDLINEPLUS:C0009421 MESH:D003128 yes Result of something that interferes with the functioning of the cerebral cortex and/or the functioning of the structures which make up the RAS. In fact, a huge and varied number of conditions can result in coma. A good way of categorizing these conditions is to consider the anatomic and the metabolic causes of coma. Anatomic causes of coma are those conditions that disrupt the normal physical architecture of the brain structures responsible for consciousness, either at the level of the cerebal cortex or the brainstem, while metabolic causes of coma consist of those conditions that change the chemical environment of the brain, thereby adversely affecting function. There are many metabolic causes of coma, including:A decrease in the delivery to the brain of substances necessary for appropriate brain functioning, such as oxygen, glucose (sugar), and sodium.The presence of certain substances that disrupt the functioning of neurons. Drugs or alcohol in toxic quantities can result in neuronal dysfunction, as can substances normally found in the body, but that, due to some diseased state, accumulate at toxic levels. Accumulated substances that might cause coma include ammonia due to liver disease, ketones due to uncontrolled diabetes, or carbon dioxide due to a severe asthma attack. Comas Comatose Coma A community is a social group of organisms sharing an environment, normally with shared interests. no yes Community The presence of co-existing or additional diseases with reference to an initial diagnosis or with reference to the index condition that is the subject of study. Comorbidity may affect the ability of affected individuals to function and also their survival; it may be used as a prognostic indicator for length of hospital stay, cost factors, and outcome or survival. As per: "Transition and Sickle Cell Disease" by Michael R. DeBaun, Joseph Telfair Include here: Asthma Osteonecrosis of the Femoral Head Restrictive Lung Disease (currently Chronic Restrictive Lung Disease in SCDO) Retinopathy Cardiac Dysfunction Renal Dysfunction/Renal Failure ...and others MeSH:D015897 Label and description adapted Additional Disease Co-Existing Disease Co-Morbid Disease Co-Morbidity Comorbidity Comorbidity may affect the ability of affected individuals to function and also their survival; it may be used as a prognostic indicator for length of hospital stay, cost factors, and outcome or survival. (source : MSH) Comorbid Disease Comparison of outcomes, results, responses, etc for different techniques, therapeutic approaches or other inputs. MESH:D003160 no Comparative Study The calculation of the cellular elements of the blood, usually including cell counts for white and red blood cells and platelets. CMO:0000364 no PhenX protocol: Complete Blood Count (CBC) #220501 A complete blood count (CBC) is a commonly performed lab test. It can be used to detect or monitor many different health conditions. Blood Cell Count Blood Cell Number CBC FBC Full Blood Count RBC count: Male: 4.7 to 6.1 million cells/mcL Female: 4.2 to 5.4 million cells/mcL WBC count:4,500 to 10,000 cells/mcL Hematocrit:Male: 40.7 to 50.3% Female: 36.1 to 44.3% Hemoglobin:Male: 13.8 to 17.2 gm/dL Female: 12.1 to 15.1 gm/dL Red blood cell indices:MCV: 80 to 95 femtoliter MCH: 27 to 31 pg/cell MCHC: 32 to 36 gm/dL Platelet count:150,000 to 450,000/dL Complete Blood Count Therapeutic practices which are not currently considered an integral part of conventional allopathic medical practice. They may lack biomedical explanations but as they become better researched some (physical therapy modalities; diet; acupuncture) become widely accepted whereas others (humors, radium therapy) quietly fade away, yet are important historical footnotes. Therapies are termed as Complementary when used in addition to conventional treatments and as Alternative when used instead of conventional treatment. Year introduced: 2002(1986) MESH:D000529 Only label adapted Complementary Medicine Alternative Therapy Complementary Therapy Compound heterozygosity in medical genetics is the condition of having two heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state. Compound Heterozygous Hemoglobinopathy Confusion is the inability to think as clearly or quickly as you normally do. You may feel disoriented and have difficulty paying attention, remembering, and making decisions Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. Perhaps move below "Behavioral Abnormality"? no Alcohol or drug intoxication, brain tumor, head trauma or head injury (concussion), fever, fluid and electrolyte imbalance, illness in an elderly person, such as loss of brain function (dementia), illness in a person with existing neurological disease, such as a stroke, infections, lack of sleep (sleep deprivation), low blood sugar, ;ow levels of oxygen (for example, from chronic lung disorders), medications, nutritional deficiencies, especially niacin, thiamine, or vitamin B12, seizures, sudden drop in body temperature (hypothermia). Confusion may come on quickly or slowly over time, depending on the cause. Many times, confusion lasts for a short time and goes away. Other times, it is permanent and not curable. It may be associated with delirium or dementia. Confusion An active immunizing vaccine used to prevent infection by the bacterium Streptococcus pneumoniae. It consists of a solution of saccharides of the capsular antigens of Streptococcus serotypes individually conjugated to proteins. no Conjugate Vaccine Pneumococcal Vaccine Pneumococcal Conjugate Vaccine Pneumococcal conjugate vaccine is recommended for all babies and children younger than 2 years old, all adults 65 years or older, and people 2 through 64 years old with certain medical conditions. Conjugate Pneumococcal Vaccine Dark red, comma- or corkscrew-shaped vascular fragment that appears to be isolated from neighboring blood vessels in the conjunctiva. Normally benign, this lesion can serve as the first diagnostic sign of sickle cell retinopathy. The conjunctival comma sign results from transient vaso-occlusive processes in the microvasculature of bulbar conjunctiva. It is not seen in sickle trait, but is common in SCD. Ballas et al 2010 Am J Hematol no Diagnostic Criteria: These fragments can be visualized with any instrument that provides moderate magnification, such as a slit lamp or even a direct ophthalmoscope at +10 diopters. Conjunctival Comma Sign A work that consists of summary statements representing the majority and current agreement of physicians, scientists, and other professionals meeting to reach a consensus on a selected subject. MESH:D016446 no Consensus Development Conference Work consisting of summary statements, from a conference sponsored by NIH, representing the majority of current opinion of physicians, scientists, and other professionals on a selected subject. MESH:D016447 no NIH Consensus Development Conference Consensus Development Conference, NIH A genetic disorder inherited during conception that is part of all cells in the organism. Perhaps remove this class but keep sub-classes? Or include the class "Acquired Genetic Disorder" as a sibling of this class if terms are included that can be sub-classes of it? OGMS:0000051 no Constitutional Genetic Disorder A measure of patient and family experiences of health care for children treated for sickle cell disease (SCD). yes PhenX protocol: Quality of Care - Children #820102 Proxy (Primary caregiver) Children and adolescents, ages 17 and younger This measure includes general questions about access to care and quality of care and additional questions about the services provided to children with chronic conditions. Items CC1-CC38 of the questionnaire are version 4.0 of the Children with Chronic Conditions Item Set. Consumer Assessment of Healthcare Providers and Systems (CAHPS) Health Plan Survey 4.0 Child Medicaid Questionnaire 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. C123446 no Continuous Ambulatory ECG A study in which observations are made before and after an intervention, both in a group that receives the intervention and in a control group that does not. Controlled Before-After Studies A work that reports on a clinical trial involving one or more test treatments, at least one control treatment, specified outcome measures for evaluating the studied intervention, and a bias-free method for assigning patients to the test treatment. The treatment may be drugs, devices, or procedures studied for diagnostic, therapeutic, or prophylactic effectiveness. Control measures include placebos, active medicine, no-treatment, dosage forms and regimens, historical comparisons, etc. When randomization using mathematical techniques, such as the use of a random numbers table, is employed to assign patients to test or control treatments, the trial is characterized as a randomized controlled trial. MESH:D018848 no Controlled Clinical Trial Works about clinical trials involving one or more test treatments, at least one control treatment, specified outcome measures for evaluating the studied intervention, and a bias-free method for assigning patients to the test treatment. The treatment may be drugs, devices, or procedures studied for diagnostic, therapeutic, or prophylactic effectiveness. Control measures include placebos, active medicines, no-treatment, dosage forms and regimens, historical comparisons, etc. When randomization using mathematical techniques, such as the use of a random numbers table, is employed to assign patients to test or control treatments, the trials are characterized as RANDOMIZED CONTROLLED TRIALS AS TOPIC. Controlled Clinical Trials as Topic A state of harmony between internal needs and external demands and the processes used in achieving this condition. MESH:D000223 Only label adapted Adaptive Behavior Adaptive Behaviors Coping Behavior Coping Behaviors Coping Skills Psychologic Adaptation Psychological Adaptation Coping Skill The CSQ-SCD consists of 78 items, which make up seven scales related to coping with pain in general: Diverting attention, Reinterpreting pain sensations, Calming self-statements, Ignoring pain sensations, Praying and hoping, Catastrophising, and Increasing activity level; together with six scales developed as specifically relevant to sickle cell disease: Fear self-statements, Anger self-statements, Isolation, Taking fluids, Resting, and Heat/cold/massage. Patients rated their use of each response from 0 = never to 6 = always, and scores were averaged to produce a mean for each scale. Two additional aspects were assessed by single items: perceived ability to control pain was rated from 0 = no control to 6 = complete control, and perceived ability to decrease pain was rated from 0 = can’t decrease it at all to 6 = can decrease it completely. Gil K.M., Abrams M.R., Phillips G. and Keefe F.J. (1989). Sickle cell disease pain: Relation of coping strategies to adjustment. Journal of Consulting and Clinical Psychology, 57, 725-731. CSQ-SCD Check and show which source was used for the description and whether the description was adapted from the source. Multiple countries and cultural groups Self Adults with SCD Demonstrated validity with SCD populations USA and UK; several publications. Adults CSQ-SCD Coping Strategies Questionnaire revised for Sickle Cell Disease Coping Strategies Questionnaire revised for Sickle Cell Disease (CSQ-SCD) The CSQ-SCD consists of 78 items, which make up seven scales related to coping with pain in general: Diverting attention, Reinterpreting pain sensations, Calming self-statements, Ignoring pain sensations, Praying and hoping, Catastrophising, and Increasing activity level; together with six scales developed as specifically relevant to sickle cell disease: Fear self-statements, Anger self-statements, Isolation, Taking fluids, Resting, and Heat/cold/massage. Patients rated their use of each response from 0 = never to 6 = always, and scores were averaged to produce a mean for each scale. Two additional aspects were assessed by single items: perceived ability to control pain was rated from 0 = no control to 6 = complete control, and perceived ability to decrease pain was rated from 0 = can’t decrease it at all to 6 = can decrease it completely. Gil K.M., Williams D.A., Thompson, R.J. and Kinney, T.R. (1991). Sickle cell disease in children and adolescents: The relation of child and parent pain coping strategies to adjustment. Journal of Pediatric Psychology, 16, 643-663. CSQ-SCD Children Check and show which source was used for the description and whether the description was adapted from the source. Multiple countries and cultural groups Self Children with SCD Demonstrated validity with SCD populations USA and UK; several publications. Children CSQ-SCD Children Coping Strategies Questionnaire revised for Sickle Cell Disease Children (CSQ-SCD Children) Corticosteroid-Induced Adverse Event Corticostroid-Induced Vaso-Occlusive Adverse Event The personal cost of acute or chronic disease. The cost to the patient may be an economic, social, or psychological cost or personal loss to self, family, or immediate community. The cost of illness may be reflected in absenteeism, productivity, response to treatment, peace of mind, or quality of life. It differs from health care costs, meaning the societal cost of providing services related to the delivery of health care, rather than personal impact on individuals. MESH:D017281 no Burden of Illness Cost of Disease Cost of Sickness Costs of Disease Disease Cost Disease Costs Economic Burden of Disease Sickness Cost Affordability Health Insurance Cost of Illness Cost-effectiveness analysis compares the costs and health effects of an intervention to assess the extent to which it can be regarded as providing value for money. This informs decision-makers who have to determine where to allocate limited healthcare resources. no Health Economics Cost-Effectiveness of Healthcare A bioassay to measure the serum concentration of creatinine, a metabolite of muscle creatine that is filtered out of blood by the kidneys. PX141400 Only label adapted PhenX protocol: Serum Creatinine Assay #141401 Serum creatinine concentration is the most standardized way to calculate glomerular filtration rate (GFR) as a measure of kidney function. Creatinine is removed from the body entirely by the kidneys. If kidney function is not normal, the creatinine level in the blood will increase. This is because less creatinine is released through the urine. Blood Creatinine Assay Blood Creatinine Test Serum Creatinine Serum Creatinine Assay A normal result is 0.7 to 1.3 mg/dL for men and 0.6 to 1.1 mg/dL for women. Women usually have a lower creatinine level than men. This is because women usually have less muscle mass than men. Creatinine level varies based on a person's size and muscle mass. Creatinine can also be measured with a urine test. Creatinine Blood Test Brief therapeutic approach which is ameliorative rather than curative of acute psychiatric emergencies. Used in contexts such as emergency rooms of psychiatric or general hospitals, or in the home or place of crisis occurrence, this treatment approach focuses on interpersonal and intrapsychic factors and environmental modification. (APA Thesaurus of Psychological Index Terms, 7th ed) MESH:D003419 no Crisis Interventions Interventions, Crisis Critical Incident Stress Debriefing Crisis Intervention Studies in which the presence or absence of disease or other health-related variables are determined in each member of the study population or in a representative sample at one particular time. This contrasts with longitudinal studies which are followed over a period of time. MESH:D003430 Cross-Sectional Studies A collective expression for all behaviour patterns acquired and socially transmitted through symbols. Culture includes customs, traditions, and language. MESH:D003469 no Cultural Beliefs Cultural Values Religion may also be part of some cultures. Culture The curation status of the term. The allowed values come from an enumerated list of predefined terms. See the specification of these instances for more detailed definitions of each enumerated value. IAO:0000078 no curation status specification Therapeutics relating to or used in the cure of diseases. yes Curative Therapeutics The respondent's current age using his or her date of birth. PX010100 yes PhenX protocol: Current Age #010101 Current age is a critical component of a respondent's demographic background. Date of birth (DOB)/current age is essential to medical research because it captures the age at the time of the clinical visit or diagnosis. Age is related to nearly all diseases and conditions and is the strongest potential confounder of other effects on these processes. Current age is often used to stratify respondents for more valid comparison (e.g., obesity of males aged 40-45 in Mississippi). Current Age The respondent's highest educational attainment at the current time. Include under QoL (Education)? Include below the Disease Modifier, Socioeconomic Status? ("Child-Reported Parental Education Attainment" is there) PX11000 yes PhenX protocol: Current Educational Attainment #011001 Education is correlated to occupation and income and is one of the key components of combined measures of "socioeconomic status." Current Educational Attainment The respondent's current employment status. Include under QoL? PX11300 yes PhenX protocol: Current Employment Status #011301 The purpose of this question is to ascertain whether the respondent is presently in the labor force. Employed persons differ considerably from those who are not employed in terms of their health, health insurance, and demographic characteristics (e.g., age). Moreover, nonemployed persons are also heterogeneous, representing those who are retired, in school, homemakers, not seeking work, and others. These nonemployed individuals also vary in health, health insurance, and demographic characteristics. Current Employment Status The respondent's current marital status. PX10900 yes PhenX protocol: Current Marital Status #010902 Marital status has been linked to health and mortality. Current Marital Status A darkening of the skin related to an increase in melanin production and deposition. HP:0000953 no Increased Skin Pigmentation Skin Hyperpigmentation Cutaneous Hyperpigmentation A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0000961 no Central and peripheral cyanosis. Cardiac, pulmonary, central nervous system, blood disorders, high altitude, hypothermia. Bluish discolouration around the mouth, lips, tongue, fingers and toes. Cyanotic Cyanosis A quantification of serum cystatin C (formerly gamma trace, post-gamma-globulin or neuroendocrine basic polypeptide), an extracellular cystatin subtype that is abundantly expressed in bodily fluids. EFO:0004617 yes Cystatin C may be used as an alternative to creatinine and creatinine clearance to screen for and monitor kidney dysfunction in those with known or suspected kidney disease. It may be especially useful in those cases where creatinine measurement is not appropriate, for instance, in those who have liver cirrhosis, are very obese, are malnourished, or have reduced muscle mass. Measuring cystatin C may also be useful in the early detection of kidney disease when other test results may still be normal and an affected person may have few, if any, symptoms. Researchers are exploring other uses of cystatin C, such as using it alone or in combination with blood creatinine for estimating the glomerular filtration rate (GFR). A recent study found that an equation for eGFR that includes both creatinine and cystatin C was more accurate than one that uses either of these alone and could be used to confirm chronic kidney disease (CKD) in people with an eGFR near 60, the threshold for CKD. In addition to kidney dysfunction, it has been associated with an increased risk of cardiovascular disease and heart failure in older adults. Cystatin 3 Gamma Trace Gamma-Trace Neuroendocrine Basic Polypeptide Post gamma Globulin Post-Gamma-Globulin Cystatin C is encoded by the CST3 gene, may play a role in the inhibition of interstitial cysteine proteases, and is mainly used as a biomarker of kidney function and kidney disease. Cystatin C Measurement D57 D57 D57 Sickle-cell disorders Broad term used to describe several different acute conditions occurring with sickle cell disease, including aplastic crisis, hemolytic crisis, and vasoocclusive crisis. D57.0 no D57.0 D57.0 Hb-SS disease with crisis D57.01 D57.01 D57.01 Hb-SS disease with acute chest syndrome D57.02 D57.02 D57.02 Hb-SS disease with splenic sequestration D57.1 D57.1 D57.1 Sickle-cell disease without crisis One of the sickle cell disorders characterized by the presence of both hemoglobin s and hemoglobin c. It is similar to, but less severe than sickle cell anemia. D57.2 no D57.2 D57.2 Sickle-cell/Hb-C disease D57.20 D57.20 D57.20 Sickle-cell/Hb-C disease without crisis D57.21 D57.21 D57.21 Sickle-cell/Hb-C disease with crisis D57.211 D57.211 D57.211 Sickle-cell/Hb-C disease with acute chest syndrome D57.212 D57.212 D57.212 Sickle-cell/Hb-C disease with splenic sequestration D57.219 D57.219 D57.219 Sickle-cell/Hb-C disease with crisis, unspecified The condition of being heterozygous for hemoglobin s. D57.3 no D57.3 D57.3 Sickle-cell trait D57.4 D57.4 D57.4 Sickle-cell thalassemia Hemolytic anemia, in which patients are heterozygous for both the sickle cell gene and a thalassemia gene. D57.40 no D57.40 D57.40 Sickle-cell thalassemia without crisis D57.41 D57.41 D57.41 Sickle-cell thalassemia with crisis D57.411 D57.411 D57.411 Sickle-cell thalassemia with acute chest syndrome D57.412 D57.412 D57.412 Sickle-cell thalassemia with splenic sequestration D57.419 D57.419 D57.419 Sickle-cell thalassemia with crisis, unspecified D57.8 D57.8 D57.8 Other sickle-cell disorders D57.80 D57.80 D57.80 Other sickle-cell disorders without crisis D57.81 D57.81 D57.81 Other sickle-cell disorders with crisis D57.811 D57.811 D57.811 Other sickle-cell disorders with acute chest syndrome D57.812 D57.812 D57.812 Other sickle-cell disorders with splenic sequestration D57.819 D57.819 D57.819 Other sickle-cell disorders with crisis, unspecified Immaturity of the sexual organs at a given age. This term replaced "Delayed Sexual Maturation" in QoL. MP:0001938 no Congenital abnormalities: Cryptorchidism, Klinefelter's syndrome, Other chromosomal abnormalities, Mutation in the FSH and LH receptor gene, Disorders of androgen biosynthesis, Myotonic dystrophy, Congenital anorchia, Varicocele, infections,radiation, Alkylating and antineoplastic agents, Suramin, Ketoconazole, Glucocorticoids, Environmental toxins, trauma, Testicular torsion, Bilateral orchiectomy, Chronic systemic diseases: cirrhosis, chronic renal failure, HIV infection, severe anemias, idiopathic. Delayed Development of Secondary Sex Characteristics Delayed Onset of Sexual Maturity Delayed Pubertal Development Delayed Sexual Maturation Delayed Sexual Maturity Pubertal Delay Absence or incomplete development of secondary sexual characteristics bounded by an age at which 95 percent of children of that sex and culture have initiated sexual maturation. Individuals with SCD generally do catch up in development. Delayed Puberty Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis. no F thalassaemia Synonym need to be checked The condition is found in many ethnic groups but is most common in Greece and Italy. Delta Beta Thalassaemia A hereditary disorder characterized by reduced or absent delta-globin thus effecting the level of hemoglobin A2, a minor component of adult hemoglobin monitored in the diagnosis of beta-thalassemia. MESH:D055538 no Delta Thalassaemias Delta-Thalassaemia Delta-Thalassaemias Delta Thalassaemia 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. HP:0000726 no Dementia is caused by damage to brain cells. This damage interferes with the ability of brain cells to communicate with each other. Dementia Progressive Progressive Dementia Dementia An acute febrile disease transmitted by the bite of AEDES mosquitoes infected with DENGUE VIRUS. It is self-limiting and characterized by fever, myalgia, headache, and rash. SEVERE DENGUE is a more virulent form of dengue. MeSH:D003715 no Break Bone Fever Break-Bone fever Breakbone Fever Dengue Dengue Fever The system pertaining to teeth, oral cavity, and associated structures. yes Dental System Terms that are no longer being used in the ontology. deprecated terms A common mental disorder, characterized by sadness, hopelessness, loss of interest or pleasure, feelings of guilt or low self-worth, disturbed sleep or appetite, feelings of tiredness, and poor concentration. Depression can be long-lasting or recurrent, substantially impairing an individual's ability to function at work or school or cope with daily life. yes Depression is closely associated with a lack of confidence and self-esteem and with an inability to express strong feelings. Repressed anger is thought to be a powerful contributor to depression. The person feels inadequate to cope with the situations that arise in everyday life and so feels insecure. Severely depressed patients usually express three basic feelings associated with their mental state. These are a lack of desire for socializing or physical activity, feelings of worthlessness and loss of self esteem, and thoughts of self-injury or destruction. Depressive Symptoms Low Mood Helplessness Hopelessness At its most severe, depression can lead to suicide. When mild, people can be treated without medicines but when depression is moderate or severe they may need medication and professional talking treatments. Depression is a disorder that can be reliably diagnosed and treated by non-specialists as part of primary health care. Specialist care is needed for a small proportion of individuals with complicated depression or those who do not respond to first-line treatments. There is a higher prevalence of depressive symptoms in children and adults with SCD compared with the general population (Mastandrea et al 2015 Sao Paulo Med J 2015;133:421-7. Wallen et al BMC Psychiatry 2014;14:207. Treadwell et al Clin J Pain 2014;30:902-14) Depression Skill in performing tasks, especially with the hands. yes Dexterity 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). HP:0000873 no Primary polydipsia. Central: most often is idiopatic, but may be due to trauma, pituitary surgery, or hypoxic or ischemic encephalopathy or rare familial cases. Nephrogenic: chronic lithium use and hypercalcemia in adults, or inherited defects in children. Diabetes Insipidus A group of abnormalities characterized by hyperglycemia and glucose intolerance. HP:0000819 no Genetic predisposition, obesity, metabolic syndrome, inadequate diet, iron deposit in the pancreas. Polyuria, polydipsia, polyphagia, unintentional weight loss, fatigue, weakness, lethargy, hyperglycemia,recurrent infections, skin and vulvar itching. Diabetes Mellitus A type of diabetic metabolic abnormality with an accumulation of ketone bodies. DKA Should this term not be below Diabetes Mellitus (DM)? And also included below DM below "Comorbid Disease"? Probably not caused by DM, as it is classified as a type of DM? HP:0001953 no Diabetes Mellitus Ketoacidosis and hyperglycemia. Diabetic Ketosis Diabetic Ketoacidosis A medical device used to diagnose medical conditions. ERO:0001448 no Diagnostic Device SCDO Diagnostic tools (including the instruments, laboratory assays and methods of patient examination) used for differential diagnosis, the measurements obtained using these tools, and the diagnostic devices used in obtaining the measurements. Diagnostics A non-steroidal anti-inflammatory agent (NSAID) with antipyretic and analgesic actions. It is primarily available as the sodium salt. DB00586 no 2-((2,6-dichlorophenyl)amino)benzeneacetic acid Diclofenac Acid [2-(2,6-dichloroanilino)phenyl]acetic acid Diclofenac Concepts involved with nutritional physiology, including categories of substances eaten for sustenance, nutritional phenomena and processes, eating patterns and habits, and measurable nutritional parameters. Should this term rather be replaced by more specific terms such as Dietary Intake? Or have such terms as sub-classes? MESH:D000066888 no Consommation Dietary Intake Diet, Food, and Nutrition Diffusion Capacity by Biochemical Methods The amount of a gas taken up, by the pulmonary capillary blood from the alveolar gas, per minute per unit of average pressure of the gradient of the gas across the blood-air barrier. DL D011653 Only label adapted Alveolar membrane diffusion capacity DL Diffusing Capacity Membrane diffusion capacity Pulmonary Diffusing Capacity Diffusion Capacity of Lung Clinical assessment to determine the capacity of an individual’s lung to exchange gases (e.g., oxygen and carbon dioxide) across the alveolar-capillary interface. Need to add more synonyms. Need to add equipment used for this test under "Devices" and link to them below. PX810300 Only label adapted Single-breath carbon monoxide diffusing capacity (DLCO) PhenX protocol: Lung Function - Diffusion Capacity #810301 Diffusion capacity is used to assess the structural and functional properties of the lung and can detect and quantify symptoms associated with conditions that impact the lung, such as sickle cell disease, cystic fibrosis, and obstructive airways disease. Lung Function - Diffusion Capacity Diffusion Capacity Test Calculation: DALY = YLL + YLD - The YLL basically correspond to the number of deaths multiplied by the standard life expectancy at the age at which death occurs. The basic formula for YLL (without yet including other social preferences discussed below), is the following for a given cause, age and sex: YLL = N x L where: N = number of deaths L = standard life expectancy at age of death in years. Because YLL measure the incident stream of lost years of life due to deaths, an incidence perspective has also been taken for the calculation of YLD in the original Global Burden of Disease Study for year 1990 and in subsequent WHO updates for years 2000 to 2004. To estimate YLD for a particular cause in a particular time period, the number of incident cases in that period is multiplied by the average duration of the disease and a weight factor that reflects the severity of the disease on a scale from 0 (perfect health) to 1 (dead). The basic formula for YLD is the following (again, without applying social preferences): YLD = I x DW x L where: I = number of incident cases; DW = disability weight; L = average duration of the case until remission or death (years). Prevalence YLD - The recent GBD 2010 study published by IHME in December 2012 used an updated life expectancy standard for the calculation of YLL and based the YLD calculation on prevalence rather than incidence: YLD = P x DW where: P = number of prevalent cases; DW = disability weight. DALY Review description. Perhaps move some info to a comment? Check and show which source was used for the description and whether the description was adapted from the source. Multiple countries and cultural groups Self; Proxy All WHO Global Burden of Disease assessment, also used in SCD studies Children and adults no DALY Disability-Adjusted Life Year (DALY) Disability-Adjusted Life Year (DALY) - removed - see Quality of Life and Care Measure Sudden calamitous events producing great material damage, loss, and distress. They are the result of natural phenomena such as earthquakes, floods, etc. Calamities producing great damage, loss of life, and distress. They include results of natural phenomena and man-made phenomena. Normal conditions of existence are disrupted and the level of impact exceeds the capacity of the hazard-affected community. MESH:D004190 no Disasters Natural Disaster Natural Disasters Disaster SCDO A biological or environmental factor that modifies one or more aspects of sickle cell disease (SCD) (such as temporal pattern, age of onset and mortality) for specific phenotype(s) in the Phenotype class. These article contains a recent description of disease modifiers for SCD: http://www.nejm.org/doi/10.1056/NEJMra1510865 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4562292/ Paper mentioning haplotypes and severity: https://www.nature.com/scitable/topicpage/sickle-cell-anemia-a-look-at-global-8756219 Initially, the HP term "Clinical Modifier" (HP:0012823) was used to define this class, but its usage was found to be more "ontology-based" than what the SCDO intended. Phenotypic Modifier Temporal pattern is defined as "The speed at which disease manifestations appear and develop." (HPO) Disease Modifier Increased volume of urine produced and excreted. Provide source for additional info. MP:0001762 Only label adapted May be caused by an increaesed osmotic load (mannitol, glucose) in the urine or induced by medicaitons that prevent sodium resorption from the urine (diuretics). Increase in urine volume. Increased Urine Output Increased Urine Volume Polyuria Diuresis Doppler Ultrasound Machine - 2 Megahertz An adverse event that has an outcome of a decreased amount of the drug excreted by the body. OAE:0000887 no Drug Clearance Decreased AE An adverse drug event that results in the development of a dependence on the drug. OAE:0000888 no Drug Dependence AE This seemed an obvious addition to the modifier class? Drug Intake A drug AE that has an outcome of lower threshold to the normal pharmacologic action of a drug. OAE:0000891 no Drug Intolerance AE An adverse event that results in symptoms that occur after the discontinuation of the use of a certain drug. OAE:0000893 no Drug Withdrawal Syndrome AE A neuropathy AE that is induced by a drug administration. OAE:0000165 no Drug-Induced Neuropathy AE 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. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. 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 results_in. HP:0001260 no In a person with dysarthria, a nerve, brain, or muscle disorder makes it difficult to use or control the muscles of the mouth, tongue, larynx, or vocal cords. The muscles may be weak or completely paralyzed. Or, it may be hard for the muscles to work together. Dysarthria may be the result of brain damage due to: brain injury, brain tumor, dementia, disease that causes the brain to lose its function (degenerative brain disease); multiple sclerosis ; parkinson disease; stroke. Dysarthria may result from damage to the nerves that supply the muscles that help you talk, or to the muscles themselves from: Face or neck trauma,Surgery for head and neck cancer, such as partial or total removal of the tongue or voice box;Dysarthria may be caused by diseases that affect nerves and muscles (neuromuscular diseases): Cerebral palsy;. Muscular dystrophy; Myasthenia gravis; Other causes may include: Alcohol intoxication; Poorly fitting dentures; Side effects of medications that act on the central nervous system, such as narcotics, phenytoin, or carbamazepine . Depending on its cause, dysarthria may develop slowly or occur suddenly. People with dysarthria have trouble making certain sounds or words.Their speech is poorly pronounced (such as slurring), and the rhythm or speed of their speech changes. Other symptoms include: sounding as though they are mumbling; speaking softly or in a whisper; speaking in a nasal or stuffy, hoarse, strained, or breathy voice. A person with dysarthria may also drool and have problems chewing or swallowing. It may be difficult to move the lips, tongue, or jaw. Dysarthric Speech Depending on the cause of dysarthria, symptoms may improve, stay the same, or get worse slowly or quickly. Patients with amyotrophic lateral sclerosis (ALS or Lou Gehrig disease) eventually lose the ability to speak. Few people with Parkinson disease or multiple sclerosis lose the ability to speak. Dysarthria caused by medication or poorly fitting dentures can be reversed. Dysarthria caused by a stroke or brain injury will not get worse, and may improve. Dysarthria after surgery to the tongue or voice box should not get worse, and may improve with therapy. Dysarthria 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. MP:0003949 no Primary (familial, Type I- V), acquired (secundary): diabetes mellitus, some drugs (thiazide diuretics, beta-blockers, estrogens), hypothyroidism, renal failure, nephrotic syndrome, alcohol consumption, endocrine disorders, metabolic disorders, diet, lifestyle, elevation of insulin levels, obesity, metabolic syndrome. Abnormal Circulating Lipid Level Dyslipidemia The combined specialties of diseases of the ear, pharynx, and larynx, including the upper respiratory tract and diseases of the head and neck, tracheobronchial tree, and esophagus. ENT no Otolaryngology Ear, Nose and Throat A small hemorrhagic spot, larger than a petechia, in the skin or mucous membrane forming a nonelevated, rounded or irregular, blue or purplish patch. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0000978 yes Various underlying conditions that predispose to rupture of blood vessels and seeping of blood into the tissue e.g trauma, primary or secondary thrombocytopenia, infections. Red, purple or black skin discolouration of an inch or more with or without pain, inflammation or spread to surrounding areas. Bruise Easily Easy Bruisability Ecchymosis Abnormal electrical activity in the heart as indicated by an electrocardiogram (ECG). OAE:0000909 yes There are many different aspects that fall under ECG abnormalities. Often people experience chest pain/discomfort difficulty breathing, heart palpitations, etc. EKG abnormalities Electrocardiogram Abnormalities Electrocardiogram Result Abnormal AE ECG Abnormalities A physiological assay that uses standard ultrasound techniques to take two-dimensional pictures of the cardiovascular system and can produce accurate assessment of the velocity of blood and cardiac tissue at any arbitrary point using pulsed or continuous wave Doppler ultrasound. ERO:0000385 no This test is done to evaluate the valves and chambers of the heart from the outside of your body. The echocardiogram can help detect: Abnormal heart valves; Abnormal heart rhythms; Congenital heart disease; Damage to the heart muscle from a heart attack; Heart murmurs; Inflammation (pericarditis) or fluid in the sac around the heart (pericardial effusion); Infection on or around the heart valves (infectious endocarditis); Pulmonary hypertension; Ability of the heart to pump (for people with heart failure); Source of a blood clot after a stroke or a Transient ischemic attack. Cardiac ECHO Cardiac US Scan Diagnostic Ultrasound of Heart Echocardiographic procedure Echocardiography US Scan of Heart Ultrasonic cardiography Ultrasonography of Heart Ultrasound of Heart A normal echocardiogram reveals normal heart valves and chambers and normal heart wall movement. Echocardiogram Ultrasonic recording of the size, motion, and composition of the heart and surrounding tissues. The standard approach is transthoracic. MESH:D004452 no Cross Sectional Echocardiography Echocardiography Machine 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. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0100601 no Abnormal development of placental vessels, low flow blood of the placental vessels. High blood pressure, proteinuria, edema, seizures, it can causes headache, visual abnormalities, abdominal pain, nausea, vomiting. Eclampsia A fertilized egg attaches and begins development in a location other than in the inner lining of the uterus, most commonly in the Fallopian tube. Provide source for additional info. MP:0009668 no Infection, surgery, congenital anomalies, tumors, anatomic distortion of the tube that can be accompanied by functional impairment due to damaged ciliary activity, sterilization, previous genital infections, in-utero diethylstilbestrol (DES) exposure, intrauterine contraceptive devices. Vaginal bleeding, abdominal pain in first trimester of pregnancy. Tubal rupture may cause life-threatening haemorrhage. Ectopic Pregnancy Acquisition of knowledge as a result of instruction in a formal course of study. MESH:D004493 no Schooling Education may also take place outside the formal course of study. Sickle cell disease may impact negatively on education and consequently on the quality of life. (SCDO WG) Education The visual output that an electrocardiograph produces. The graph can show that there are abnormal conditions, such as blocked arteries, changes in electrolytes (particles with electrical charges), and changes in the way electrical currents pass through the heart tissue. Electrocardiography ECG EKG Arrhythmia It is a noninvasive recording produced by an electrocardiographic device. Electrocardiogram Device which makes prolonged electrocardiographic recordings on a portable tape recorder (Holter-type system) or solid-state device ("real-time" system), while the patient undergoes normal daily activities; useful in the diagnosis and management of intermittent cardiac arrhythmias and transient myocardial ischemia. no The diagnosis and management of intermittent cardiac arrhythmias and transient myocardial ischemia. Ambulatory Electrocardiographic Monitor Electrocardiocorder Electrocardiographic Monitor Recording of the moment-to-moment electromotive forces of the heart as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a cathode ray tube display. ERO:0000383 Only label adapted ECG EKG It is a noninvasive recording produced by an electrocardiographic device. Electrocardiography Electrocardiography Assay A graphic record of the electrical activity of the brain as recorded by an electroencephalograph. no Electroencephalogram An instrument that measures electrical potentials on the scalp and generates a record of the electrical activity of the brain. no Encephalograph Electroencephalograph Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain. D004569 no Electroencephalography Electroencephalography Assay Electron Microscope Media that facilitate transportability of pertinent information concerning patient's illness across varied providers and geographic locations. Some versions include direct linkages to online consumer health information that is relevant to the health conditions and treatments related to a specific patient. D057286 Electronic Health Record Electronic Medical Record Electronic Medical Records Electronic Health Records An electrochemical process in which macromolecules or colloidal particles with a net electric charge migrate in a solution under the influence of an electric current. Perhaps change label to "Hemoglobin Electrophoresis"? Exactsynonym "Hb ELP". See dc:source provided. D004586 no Electrophoresis An increased level of iron in liver tissues. HP:0012465 no This abnormality can be measured by liver biopsy or by hepatic magnetic resonance imaging. Elevated Hepatic Iron Concentration A test that shows an abnormal result of the test of the muscles and the nerves that control the muscles. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. yes Disorders or conditions that cause abnormal results include the following:Alcoholic neuropathy; Amyotrophic lateral sclerosis (ALS); Axillary nerve dysfunction; Becker muscular dystrophy; Brachial plexopathy; Carpal tunnel syndrome; Cubital tunnel syndrome; Cervical spondylosis; Common peroneal nerve dysfunction; Denervation (reduced nerve stimulation of a muscle); Dermatomyositis; Distal median nerve dysfunction; Duchenne muscular dystrophy; Facioscapulohumeral muscular dystrophy (Landouzy-Dejerine); Familial periodic paralysis; Femoral nerve dysfunction; Friedreich ataxia; Guillain-Barre syndrome; Lambert-Eaton syndrome; Mononeuritis multiplex; Mononeuropathy; Myopathy (muscle degeneration caused by a number of disorders, including muscular dystrophy); Myasthenia gravis; Peripheral neuropathy; Polymyositis; Radial nerve dysfunction; Sciatic nerve dysfunction; Sensorimotor polyneuropathy; Shy-Drager syndrome; Thyrotoxic periodic paralysis. Abnormal Electromyography (EMG). EMG Abnormality A term that means brain disease, damage, or malfunction. In general, it is manifested by an altered mental state. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. Specify which Blood Tests and Which Imaging Tests are used to diagnose. HP:0001298 yes Encephalopathy may be caused by infectious agent (bacteria, virus, or prion), metabolic or mitochondrial dysfunction, brain tumor or increased pressure in the skull, prolonged exposure to toxic elements (including solvents, drugs, radiation, paints, industrial chemicals, and certain metals), chronic progressive trauma, poor nutrition, or lack of oxygen or blood flow to the brain. Depending on the type and severity of encephalopathy, common neurological symptoms are progressive loss of memory and cognitive ability, subtle personality changes, inability to concentrate, lethargy, and progressive loss of consciousness. Other neurological symptoms may include myoclonus (involuntary twitching of a muscle or group of muscles), nystagmus (rapid, involuntary eye movement), tremor, muscle atrophy and weakness, dementia, seizures, and loss of ability to swallow or speak. Encephalopathy 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. ESKD Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0003774 yes 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. ESKD End Stage Renal Disease End Stage Renal Disease (ESRD) End Stage Kidney Disease The system pertaining to the stomach, intestines, and associated organs including liver, gallbladder, and pancreas. yes Gastroenterology Endocrine and Metabolic The growth of endometrial tissue outside the uterus. Provide source for additional info. HP:0030127 no The cause has not been definitively established Pelvic pain, severe dysmenorrhea, dyspareunia and infertility, or it may be asymptomatic, and incidentally discovered at laparoscopy or exploratory surgery. Endometriosis Local accumulation of fluid, plasma proteins, and leukocytes in the endometrium. Provide source for additional info. MP:0009360 Only label adapted Bacteria, mycoplasma, Neisseria gonorrhoeae, Chlamydia trachomatis, and herpes simplex virus and cytomegalovirus in HIV infected women, rarely clostridium sp, and streptococcal or staphylococcal toxic shock syndrome. Fever, tachycardia that parallels the rise in temperature, midline lower abdominal pain, and uterine tenderness. Endometrial Inflammation Endometrium Inflammation Endometritis 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. HP:0000805 no Enuresis may affect children's social relationships (spending time with peers overnight) and cause embarrassment. Enuresis SCDO An environmental factor that modifies one or more aspects of sickle cell disease (SCD) (such as temporal pattern, age of onset and mortality) for specific phenotype(s) in the Phenotype class. Perhaps include MESH term "Life Change Events" as a main sub-class, with "Disaster" (under Physical Environment") copied below it? Environmental Disease Modifier A method used to measure the relative activity of a specific enzyme or its concentration in solution. Typically an enzyme substrate is added to a buffer solution containing enzyme and the rate of conversion of substrate to product is measured under controlled conditions. D057075 yes Many classical enzymatic assay methods involve the use of synthetic colorimetric substrates and measuring the reaction rates using a spectrophotometer. Sensitive detection methods use enzymes to indirectly measure substances that would normally be difficult to quantitate. Enzymatic Assay Studies designed to examine associations, commonly, hypothesized causal relations. They are usually concerned with identifying or measuring the effects of risk factors or exposures. The common types of analytic study are case-control studies; cohort studies; and cross-sectional studies. Term to be adapted as necessary to match EDDA Study Designs Taxonomy Epidemiologic Studies Types and formulations of studies used in epidemiological and clinical research. Term to be adapted as necessary to match EDDA Study Designs Taxonomy MESH:D016020 no Epidemiologic Study Characteristics Epidemiologic Study Characteristics as Topic Epidemiologic Study Characteristic A disorder whose etiology involves (1) a modification to the patient's genomic DNA which leads to alterations in the normal expression pattern of the genome, but is (2) not a change in the nucleotide sequence. OGMS:0000046 no Epigenomic Disorder Epigenetic Disorder A questionnaire to assess epilepsy, a condition characterized by recurrent seizures and which is a component of over 40 neurological disorders (Aminoff, et al., 2005). PX130400 no PhenX protocol: Epilepsy Screener #130401 Self This measure is used to screen people for the presence of epilepsy. Epilepsy can be caused by genetics or environmental factors such as pesticides (Meisler and Kearney, 2005). People with epilepsy are more likely to also suffer from migraines, depression, anxiety, attention-deficit/hyperactivity disorder and autism (Pliplys et al, 2007, Levinsohn, 2007). Adult, aged 18 or older Epilepsy Screener The GHQ is a screening device for identifying minor psychiatric disorders in the general population and within community or non-psychiatric clinical settings such as primary care or general medical outpatients. Suitable for all ages from adolescent upwards (not children), it assesses the respondent’s current state and asks if that differs from his or her usual state. It is therefore sensitive to short-term psychiatric disorders but not to long-standing attributes of the respondent. The self-administered questionnaire focuses on two major areas: inability to carry out normal functions; appearance of new and distressing phenomena. It is available in the following versions: GHQ-60 – the fully detailed 60-item questionnaire; GHQ-30 – a short form without items relating to physical illness; GHQ-28 – a 28 item scaled version – assesses somatic symptoms, anxiety and insomnia, social dysfunction and severe depression; GHQ-12 – quick, reliable and sensitive short form, ideal for research studies. GHQ Goldberg, David; Hillier, Valerie (1979). "A scaled version of the General Health Questionnaire". Psychological Medicine. Cambridge University Press. 9 (01): 139–145. yes General Health Questionnaire (GHQ) The GAD-7 is a self-administered patient questionnaire used as a screening tool and severity measure for generalised anxiety disorder. The GAD-7 score is calculated by assigning scores of 0, 1, 2, and 3, to the response categories of 'not at all', 'several days', 'more than half the days', and 'nearly every day', respectively, and adding together the scores for the seven questions. Scores of 5, 10, and 15 are taken as the cut-off points for mild, moderate and severe anxiety, respectively. When used as a screening tool, further evaluation is recommended when the score is 10 or greater. Spitzer RL, Kroenke K, Williams JB, et al; A brief measure for assessing generalized anxiety disorder: the GAD-7. Archives of Internal Medicine. 2006;166(10):1092-7. GAD-7 Check and show which source was used for the description and whether the description was adapted from the source. Patient Reported Outcome Clinic Patients Numerous Widely used around the world, also used in SCD Adults 18 years and older no GAD-7 Generalised Anxiety Disorder Questionnaire Generalised Anxiety Disorder Questionnaire (GAD-7) An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered. MESH:D005817 Prenatal Genetic Counseling Genetic Counseling SCDO A biological disease modifier that is of a genetic nature. Genetic Disease Modifier A disorder whose etiology involves an abnormality in the nucleotide sequence of an organism's genome. OGMS:0000047 no Genetic Disorder Testing to determine if there is a predisposition or indication of a possible genetic or a chromosomal abnormality. NCIT:C92803 no Genetic Screening Organized services to provide diagnosis, treatment, and prevention of genetic disorders. MESH:D033142 no Genetic Services Genetic Service Chromosomal, biochemical, intracellular, and other methods used in the study of genetics. This and its sub-classes need work! MESH:D005821 no Genetic Technic Genetic Technics Genetic Techniques Genetic Technique 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. What about the overlap of this term with "Genetic Testing" in Therapeutics? Note: "Genetic Test" is a SNOMED CT term. Only label adapted Genetic Analysis Genetic Examination Genetic Test Genetic Testing Genome wide association study is a kind of study whose objective is to detect association between genetic markers (SNP or otherwise) accross the genome and a trait which may be a disease or another phenotype (e.g. trait of agronomic relevance in animal or plant studies). Genome wide association study compare the allele frequencies in 2 populations, one free of the trait used as control, the other one showing the trait use as 'case'. GWAS studies implement case-control design. STATO:0000091 no GWAS Genome Wide Association Study A reference to a place on the Earth, by its name or by its geographical location. GAZ:00000448 no Geography Geographic Region Geographical Variables Geographic Location Hemorrhage affecting the gingiva. HP:0000225 no Bleeding Gums Gingival Hemorrhage Gingival Bleeding Elevated ocular pressure caused by clogging of the trabecular meshwork and by impaired aqueous humor outflow from blood in the anterior chamber (due to ocular trauma or surgery). Ballas et al 2010 Am J Hematol Mowatt et al 2010 Eur J Ophthalmol EFO:0000516 Ballas et al 2010 Am J Hematol no Often follows trauma, which may be minimal, or surgery. Raised intraocular pressure. Glaucomas Diagnostic Criteria: Measurement of intraocular pressure. Glaucoma is present if intraocular pressure exceeds 24 mmHg for any consecutive 24-hour period, when measured every six hours. Glaucoma (Secondary to Presence of Blood in the Anterior Chamber of the Eye) Glaucoma A test to assess the respondent's overall mental capability. PX130700 no PhenX protocol: Global Mental Status Screener - Adult #130701 PhenX protocol: Global Mental Status Screener - Child #130702 This measure quickly screens a variety of cognitive domains to determine a respondent's general mental status. It can be used to detect impaired mental status caused by a variety of conditions including head injury, stroke, infections, brain tumors, developmental defects and neurodegenerative disorders such as Alzheimer's disease. Global Mental Status Screener A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characteristic heme enclosing structure. MESH:D005914 no Globin Loci Measurement of the flow rate of filtered fluid through the kidney, calculated either by comparative measurements of substances in the blood and urine, or estimated from a blood test. EF:0005208 no Cockcroft-Gault Calculator (or Equation), MDRD GFR Calculator, CKD-EPI Creatinine Calculator (or Equation) GFR Glomerular Filtration Rate Inflammatory lesion of the glomerulus that may result in proteinuria and/or hematuria and progressive renal injury. HP_0000099 GN Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. yes May occur at any age. no 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. Glomerular Nephritis Glomerulonephritis Nonspecific term referring to any disease, inflammatory or noninflammatory, affecting the glomeruli of the nephron. HP:0100820 yes Glomerulopathies Glomerulopathy Scarring and fibrosis within the glomerulus. NHLBI 2014 Guidelines Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0000096 yes Any form of injury to the kidney can lead to glomerulosclerosis. Histologically noted by scarring and fibrosis in the glomerulus. Glomerular Sclerosis Glomerulosclerosis This gene encodes glucose-6-phosphate dehydrogenase. G6PD yes G-6-PD Official Full Name: glucose-6-phosphate dehydrogenase; Gene ID: 2539; Chromosome: X; Position: 154531390..154547586 (GRCh38.p2); Variants Glucose-6-Phosphate Dehydrogenase G6PD Any disease characterized by the formation of numerous granulomas. Source needed for additional information. HP:0002955 yes Allergic (Churg-strauss syndrome), eosinophilic (langerhan cell histiocytosis), langerhans (langerhan cell histiocytosis), lymphomatoid, siderotica, wegeners. Genetic predispositions, autoimmune mediated, chronic inflammation. Predominant multisystemic involvement. Granulomatosis A deficiency or slowing down of growth pre- and postnatally greater than two standard deviations from the age- and sex-related normal. This term replaced "Delayed Growth" in QoL. HP:0001510 yes Genetic background, intrauterine disease, malnutrition, chronic illness, drugs, hormone disorders, neurologic disorders, emotional deprivation. Short stature or weight, low development. Delayed Growth Growth Deficiency Growth Failure Growth Retardation Poor Growth Retarded Growth Very Poor Growth Poor or abnormally slow height or weight gain in a child younger than age 5. Growth Delay A bioassay to measure haptoglobin, which is produced by the liver and transports hemoglobin to the liver for recycling. PX10800 Only label adapted PhenX protocol: Haptoglobin Level #810801 The PhenX protocol provides instructions for drawing, processing, and storing blood according to the National Health and Nutrition Examination Survey (NHANES) methods. Because there are many comparable assays for measuring haptoglobin, the protocol also provides basic guidelines to aid comparability among different studies. Low levels of haptoglobin are an indirect marker of hemolysis and anemia. Haptoglobin Blood Test A quantifictaion of blood haptoglobin. efo:EFO_0004640 Label and description adapted Used as in the diagnosis of tranfusion reaction and haemolytic anaemia. Low levels of haptoglobin are an indirect marker of hemolysis and anemia. Haptoglobin Levels Haptoglobin Measurement Haptoglobin Level The actions taken by an individual to maintain, attain, and protect their good health. Health behavior reflects a person's health beliefs. Include: gaining better control of your diabetes lowering cholesterol lowering blood pressure maintaining a healthy body weight eating a balanced diet Perhaps this description should be changed to include behaviour that isn't necessarily positive? Such as that given by the Psychology Ontology? Then include these from MESH: - Treatment Refusal - Vaccination Refusal Initially, this description was used for the MeSH term (D015438): "Behaviors expressed by individuals to protect, maintain or promote their health status. For example, proper diet, and appropriate exercise are activities perceived to influence health status. Life style is closely associated with health behavior and factors influencing life style are socioeconomic, educational, and cultural." But this description seems to have changed and no longer refers to the same thing. Now it is: "Combination of HEALTH KNOWLEDGE, ATTITUDES, PRACTICE which underlie actions taken by individuals regarding their health." NCIT:C16663 no Health Behaviour People's beliefs about health problems, perceived benefits of action and barriers to action, and self-efficacy explain engagement (or lack of engagement) in health-promoting behaviour. From the Health-Belief Model Health Beliefs Health financing is concerned with how financial resources are generated, allocated and used in health systems. Health financing policy focuses on how to move closer to universal coverage with issues related to: (i) how and from where to raise sufficient funds for health; (ii) how to overcome financial barriers that exclude many poor from accessing health services; or (iii) how to provide an equitable and efficient mix of health services. no Health Care Costs Health Care Resources Healthcare Costs Healthcare Resources Health Financing Whether the respondent is covered by health insurance or some other form of health care coverage at the time of the interview. Include below QoL? The protocol seems to be somewhat U.S. specific. Is it fine to use or is there one more relevant to the African setting? PX11500 yes Individuals who do not have health insurance do not visit health care providers on a regular basis or for preventive testing (e.g., prostate examination) and may be more vulnerable to illness or disease. Usually, individuals who do not have health insurance are those who cannot afford to pay the insurance premiums and are not eligible for government programs (e.g., immigrants). Health Insurance Coverage Degree to which individuals have the capacity to obtain, process and understand basic health information and services needed to make appropriate health decisions. MESH:D057220 no Knowledge about Sickle Cell Disease Genetic Counseling See also: Genetic Counseling Health Literacy Health data accessible to the patient and others. Longitudinal patient-maintained records of individual health history and tools that allow individual control of access. MESH:D055991 no Health Records, Personal Personal Health Information Personal Health Record Personal Health Records Personal Medical Record Personal Medical Records Health Records The measure of the population's use of the health care services available to them. This includes the utilization of Hospital resources, Personal Care Home (PCH) resources, and physician resources. Health care utilization and health status are used to examine how efficiently a health care system produces health in a population. Only label adapted Health Care Utitlization Healthcare Utitlization (Patient/provider relationship; communication (including respect, courtesy); stigma: special issues related to pain and pain medications; adherence with medications and treatments (provider responsible to educate and support patient/family; provider adherence with guidelines and best practices). (Stigma; prejudice; barriers). (Stigma; prejudice; barriers) Health Service Utilization A system responsible for delivering services that improve, maintain or restore the health of individuals and their communities. This includes the care provided by hospitals and family doctors, but also less visible tasks such as the prevention and control of communicable disease, health promotion, health workforce planning and improving the social, economic or environmental conditions in which people live. Perhaps this should be separate from Quality of Health Care? yes Health Care Delivery Health Care Systems Healthcare Delivery Health System Utility measures of health related quality of life are preference values that patients attach to their overall health status. In clinical trials, utility measures summarize both positive and negative effects of an intervention into one value between 0 (equal to death) and 1 (equal to perfect health). These measures allow for comparison of patient outcomes of different diseases, and for comparison between various health care interventions. There are 2 different approaches to utility measurement. no Health Utility Index Health states are defined and then value placed upon those health states. Health Utility Access to health care refers to the ease with which an individual can obtain needed medical services. The WHO Constitution enshrines "...the highest attainable standard of health as a fundamental right of every human being." The right to health includes access to timely, acceptable, and affordable health care of appropriate quality. Check which source was used to obtain the description and change it's property to "description source". Additional WG note: organization of health system [insurance]; electronic (portable) health records; special issues related to pain and pain medications; levels of care (primary, secondary, tertiary) (Location – [rural/urban; mobile units]; hours; affordability; timeliness). Availability of personnel. Equipment treatments other resources yes Access to Healthcare Health Care Access Healthcare Access Dietary patterns which have been found to be important in reducing disease risk. MESH:D000072001 no Healthy Eating Healthy Diet A pattern of behavior involving lifestyle choices which ensure optimum health. Examples are eating right; maintaining physical, emotional, and spiritual wellness, and taking preemptive steps against communicable diseases. MESH:D000070497 no Healthy Life Style Healthy Lifestyle Pressure exerted by the heart muscle in its maximally contracted state. CMO:0000665 no Heart Contraction Pressure Examinations used to diagnose and treat heart conditions. D006334 Only label adapted Heart Function Tests Pulmonary Function Test Heart Function Test The number of times the heart ventricles contract per unit of time, usually per minute. EFO:0004326 no The pulse can be measured at areas where an artery passes close to the skin. These areas include the: back of the knees; groin; neck; temple; top or inner side of the foot; wrist. To measure the pulse at the wrist, place the index and middle finger over the underside of the opposite wrist, below the base of the thumb. Press with flat fingers until you feel the pulse. To measure the pulse on the neck, place the index and middle fingers just to the side of the Adam's apple, in the soft, hollow area. Press gently until you locate the pulse. Note: Sit or lie down before taking the neck pulse. The neck arteries in some people are sensitive to pressure. Fainting or slowing of the heartbeat can result. Also, do not take the pulses on both sides of the neck at the same time. Doing so can slow the flow of blood to the head and lead to fainting. Once you find the pulse, count the beats for 1 full minute. Or count the beats for 30 seconds and multiply by 2. This will give the beats per minute. Measuring the pulse gives important information about your health. Any change from your normal heart rate can indicate a health problem. Fast pulse may signal an infection or dehydration. In emergency situations, the pulse rate can help determine if the patient's heart is pumping. Pulse measurement has other uses as well. During or immediately after exercise, the pulse rate gives information about your fitness level and health. Cardiac Chronotropy Heart Beat Pulse Pulse Rate Normal results for resting heart rate: Newborns 0 to 1 month old: 70 to 190 beats per minute; Infants 1 to 11 months old: 80 to 160 beats per minute; Children 1 to 2 years old: 80 to 130 beats per minute; Children 3 to 4 years old: 80 to 120 beats per minute; Children 5 to 6 years old: 75 to 115 beats per minute; Children 7 to 9 years old: 70 to 110 beats per minute; Children 10 years and older, and adults (including seniors): 60 to 100 beats per minute; Well-trained athletes: 40 to 60 beats per minute. Abnormal results: Resting heart rates that are continually high (tachycardia) may mean a problem. Resting heart rates that are below the normal values (bradycardia) may also mean a problem. A pulse that is very firm (bounding pulse) and that lasts for more than a few minutes, or an irregular pulse can also indicate a problem. A pulse that is hard to locate may mean blockages in the artery. These blockages are common in people with diabetes or hardening of the artery from high cholesterol. A Doppler study may be ordered to check the blockages. Heart Rate Measure to assess the structure and function of the heart valves. PX40500 no PhenX protocol: Heart Valve Function #040501 To determine the function of the heart valves in order to assess risk factors for stenosis or insufficiency of the mitral, aortic, pulmonary or tricuspid valves of the heart. Heart Valve Function Measure Percentage of total blood volume that is made up of red blood cells. Hct CMO:0000037 no Hct Packed Cell Volume Packed Red Blood Cell Volume Hematocrit A measurement device used to perform complete blood counts, erythrocyte sedimentation rates (ESRs), or coagulation tests. ERO:0000494 no Haematology Analyser Hematology Analyzer In SNOMED CT Haematology Screening Test Hematology Screening Test Transfer of hematopoietic stem cells from bone marrow or blood between individuals within the same species (transplantation, homologous) or transfer within the same individual (transplantation, autologous). Hematopoietic stem cell transplantation has been used as an alternative to bone marrow transplantation in the treatment of a variety of neoplasms. MESH:D018380 no BMT Bone Marrow Transplant Bone Marrow Transplantation Hematopoietic stem cell transplantation (HSCT) is a treatment option for an increasing but still small number of people with SCD. The procedure involves “conditioning” therapy, utilizing myelosuppressive and/or immune-modifying drugs, followed by infusion of histocompatible stem cells (derived from bone marrow, peripheral blood, or umbilical cord blood). Substantial risks are involved with the procedure, and it is not yet feasible in the majority of people with SCD. Although clinical trials have provided promising results, and cure appears to be possible in a large proportion of patients receiving HSCT, additional research is still needed that addresses the potential risks of this therapy (e.g., failure of engraftment and chronic graft-versus-host disease) before HSCT can become a widely used therapy. Hematopoietic Stem Cell Transplantation The blood-making organs and tissues, principally the bone marrow and lymph nodes. MESH:D006413 no Hematology Hematopoietic System Presence of blood in the urine. Perhaps move this out from below "Nephrology"? MeSH:D006417 no Blood in Urine Hematuria This gene encodes the enzyme, heme oxygenase 1, an essential enzyme in heme catabolism. HMOX1 HO1 yes HO1 Haemoxygenase 1 Hemeoxygenase 1 Hemoxygenase-1 Official Full Name: heme oxygenase 1; Gene ID: 3162; Chromosome: 22; Position: 35381067..35394214 (GRCh38.p2); Variants Heme Oxygenase 1 HMOX1 Organs involved in the production of BLOOD, including the cellular and the molecular components essential in providing defense against foreign organisms or substances. Hemic and Immune Systems A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. DOID:2352 no Diabetes Bronze Haemochromatosis Iron Overload Iron Storage Disorder Hemochromatosis An abnormal hemoglobin in which lysine replace a glutamic acid residue at the sixth position of beta chains. MESH:D006444 yes Mild Hb C HbC Hemoglobin C An abnormal hemoglobin resulting from the substitution of valine for glutamic at position 6 of the beta globin. HP:0045047 MESH:D006451 yes Hb S HbS Sickle Hemoglobin HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia. Hemoglobin S An abnormal hemoglobin composed of four beta chains. It is caused by the reduced synthesis of the alpha chain. This abnormality results in alpha-thalassemia. HP:0011903 MESH:D006447 no Hb H HbH Hemoglobin H Is this term necessary? Hemoglobin A2 Profile An abnormal hemoglobin composed of four gamma globin. HP:0005507 yes Hb Bart's Hemoglobin Bart's Hemoglobin Bart's Is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues. HP:0005507 no Hb Bart Hb Bart syndrome Hemoglobin Bart Hemoglobin Bart Hydrops Fetalis Syndrome Hemoglobin Bart Syndrome An autosomal recessive hemoglobinopathy characterized by an abnormal form of hemoglobin called hemoglobin C, which disrupts the oxygen-carrying ability of red blood cells. This condition has a mild clinical course, with most patients being asymptomatic. When symptoms appear, they include mild to moderate hemolytic anemia, splenomegaly, and occasionally jaundice. Hb C NCIT:C34675 yes Hb C-disease Affected gene: HBB gene (with an autosomal recessive pattern of inheritance) Affected protein: Hemoglobin subunit beta (UniProt Number: P68871) Originated on the west coast of Africa. Hb C is found in diverse populations in Africa, southern Europe, and South and Central America, though its exact allelic distribution across these varied populations remains unclear. Hemoglobin C Disease The inheritance of the gene for hemoglobin C from one parent and a gene for normal adult hemoglobin (hemoglobin A) form the other parent. Hb AC yes Haemoglobin C-A Disorder Hemoglobin C-A Disorder Heterozygous for Hb C Hb C-Carrier Hemoglobin C-Carrier Hemoglobin C Trait A form of beta-thalassemia in which the patient is compound heterozygous for hemoglobin C and beta-thalassemia, resulting in moderate hemolytic anemia. HbC - BT The description could be more detailed. yes Hb C-Beta Thalassemia Syndrome Hemoglobin C Beta-Thalassemia Prevalence of this form is not known but it is predominant in African populations. Hemoglobin C-Beta-Thalassemia A test to measure the variants of hemoglobin that cause sickle cell disease. Many terms below this term in SNOMED CT should be added. PX830300 yes PhenX protocol: Hemoglobin Characterization #830301 This PhenX protocol can be used to identify and characterize the different variants in structure and synthesis of hemoglobin that cause sickle cell disease. Haemoglobin Variant Observation Haemoglobin Variant Test Haemoglobinopathy Screen Hemoglobin Variant Observation Hemoglobin Variant Test Hemoglobinopathy Screen Hemoglobin Characterization 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. CMO:0000506 no The hemoglobin test is a commonly ordered blood test and is almost always done as part of a complete blood count (CBC). Common reasons or conditions for ordering the hemoglobin test include:Symptoms such as fatigue, feelings of poor health, or unexplained weight loss; Signs of bleeding are present; Before and after major surgery; During pregnancy; Presence of chronic kidney disease or many other chronic medical problems; Monitoring of anemia and its cause; Monitoring during treatment for cancer; Monitoring medicines that may cause anemia or low blood counts. Hemoglobin level hemoglobin absorbance The reference ranges for hemoglobin concentration in adults are as follows: Men: 14.0-17.5 (mean 15.7) g/dL; Women: 12.3-15.3 (mean 13.8) g/dL The reference ranges for hemoglobin concentration in children are as follows: Birth: mean 16.5 g/dL (-2SD: 13.5 g/dL); 1-3 days: mean 18.5 g/dL (-2SD: 14.5 g/dL); 1 week: mean 17.5 g/dL (-2SD: 13.5 g/dL); 2 weeks: mean 16.5 g/dL (-2SD: 12.5 g/dL); 1 month: mean 14.0 g/dL (-2SD: 10.0 g/dL); 2 months: mean 11.5 g/dL (-2SD: 9.0 g/dL); 3-6 months: mean 11.5 g/dL (-2SD: 9.5 g/dL); 0.5-2 years: mean 12.0 g/dL (-2SD: 11.0 g/dL); 2-6 years: mean 12.5 g/dL (-2SD: 11.5 g/dL); 6-12 years: mean 13.5 g/dL (-2SD: 11.5 g/dL); 12-18 years female: mean 14.0 g/dL (-2SD: 12.0 g/dL); 12-18 years male: mean 14.5 g/dL (-2SD: 13.0 g/dL) Hemoglobin Concentration An autosomal recessive hemoglobinopathy characterized by an abnormal form of hemoglobin called hemoglobin D, which disrupts the oxygen-carrying ability of red blood cells. yes Hb DD Affected gene: HBB gene (with an autosomal recessive pattern of inheritance) Affected protein: Hemoglobin subunit beta (UniProt Number: P68871) Hemoglobin D is the fourth most common hemoglobin variant, which developed as a response to the selective pressure of malaria. It is most often found in people living in India, Pakistan, England, Ireland, Holland, Australia, China, Iran, Turkey and their descendants. However, they are also found in people of European descent, especially British and Irish. Homozygous Hb DD is rare and a relatively mild disease. Heterozygous Hb D/β-thal is more common and more serious. It is most often found in people living in India, Pakistan, England, Ireland, Holland, Australia, China, Iran, Turkey and their descendants. Hemoglobin D Disease The inheritance of the gene for hemoglobin D from one parent and a gene for normal adult hemoglobin (hemoglobin A) form the other parent. yes Hb AD Hb D-Carrier Hemoglobin D-Carrier Hemoglobin D Trait A form of beta-thalassemia in which the patient is compound heterozygous for hemoglobin D and beta-thalassemia, which results in a mild to moderate clinical presentation, depending upon the degree of thalassemia affecting the hemoglobin A gene. A form of beta-thalassemia in which the patient is compound heterozygous for hemoglobin D and beta-thalassemia, which results in a mild to moderate presentation of. yes This condition is caused by mutations in the HBB gene. One copy of the gene has a mutation leading to an abnormal form of hemoglobin known as hemoglobin D. HbD - BT Hemoglobin D Beta-Thalassemia A mild hemolytic anemia usually develops in the first few months of life as the amount of fetal hemoglobin decreases and hemoglobin D increases. Splenomegaly and other complications can occur but in general it is considered a fairly benign condition. Also, because the red blood cell indices are abnormal in hemoglobin D/B thalassemia, iron deficiency, if suspected, may need to be assessed more directly through serum iron levels, iron binding capacity, and percent saturation. Hemoglobin D-Beta Thalassemia A variant of Hemoglobin D Disease (Hb D) that substitutes lysine for the normal threonine at codon 7 of the B-chain. Hb D-Ibadan yes Hb D-Ibadan [beta87(F3)Thr-->Lys] is a common variant in the Nigerian population Hemoglobin D-Ibadan Abnormal hemoglobin in which glutamine replaces glutamic acid at codon 121 of beta globin. Hb D-Punjab yes Hb D-Los Angelese Hemoglobin D (Chicago) Hemoglobin D (Los Angeles) Hemoglobin D (North Carolina) Hemoglobin D (Portugal) Hemoglobin D (Punjab) Hemoglobin Oak Ridge Hemoglobin D-Punjab is harmless alone, even in homozygous state, but is the only Hb of the “D family” which leads to a severe form of sickle cell disease when associated with Hb S. Is a rare variant often observed in populations from Northwestern India but also found in many individuals from Balkan region, Turkey, North and West Africa. Hemoglobin D-Punjab yes Hemoglobin Disease Other than C,D,E,F,H,O-Arab,S An autosomal recessive hemoglobinopathy characterized by an abnormal form of hemoglobin called hemoglobin E, which disrupts the oxygen-carrying ability of red blood cells. The condition has no or mild clinical manifestations (hemolytic anemia). Bachir, D; Galacteros, F (November 2004), Hemoglobin E disease. Orphanet Encyclopedia, retrieved January 13, 2014. yes Hb E-Disease Affected gene: HBB gene (with an autosomal recessive pattern of inheritance) Affected protein: Hemoglobin subunit beta (UniProt Number: P68871) Hemoglobin E is most prevalent in Southeast Asia (Thailand, Myanmar, Cambodia, Laos, Vietnam). Hemoglobin E Disease The inheritance of the gene for hemoglobin E from one parent and a gene for normal adult hemoglobin (hemoglobin A) form the other parent. yes Hb AE Hb E Trait Hb E-carrier Hemoglobin E Trait A form of beta-thalassemia in which the patient is compound heterozygous for hemoglobin E and beta-thalassemia, which results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia. HbE - BT yes Hemoglobin E Beta-Thalassemia Prevalence of this form is not known but HbE - beta-thalassemia is predominant in Southeast Asia. Hemoglobin E-Beta Thalassemia Is this term necessary? Hemoglobin F Profile A form of alpha thalassemia that results from reduced protein production from three of the four alpha-globin genes. Clinically it is characterized by chronic hemolytic anemia. HbH Disease NCIT:C95504 no Alpha-Thalassemia Intermedia Hb H-disease Affected gene: HBA1 gene HBA2 gene Affected protein: Hemoglobin subunit alpha 1 (UniProt Number: P69905) Hemoglobin subunit alpha 2 (UniProt Number: P69905) Patients have variable microcytic hypochromic hemolytic anemia, splenomegaly (50 to 80%) and less commonly hepatomegaly (50%), mild jaundice (20-40%), and mild-to-moderate beta-thalassemia major (see this term)-like skeletal changes mainly affecting the face (30%). Hypersplenism and gallstones are also found, as well as acute episodes of hemolysis in response to oxidant drugs and infections. Hydrops fetalis (see this term) is present in very rare cases. Iron overload is common in older patients, even in the absence of transfusion, and is attributed to iron hyperabsorption. Growth retardation has been reported in children. (orpha.net; 10/2017) Predominantly seen in Southeast Asia, the Middle East and the Mediterranean. (orpha.net; 10/2017) The severity of the disease is related to its molecular basis: patients with non-deletional types of HbH disease, such as Constant Spring mutation, are more severely affected than those with the common deletional types. (orpha.net; 10/2017) Hemoglobin H Disease A variant of Hemoglobin Lepore Syndrome. yes Hb Lepore Baltimore Most common in people from the Balkan countries, Albanians Croats, Serbs, Slovenes and Romanians. It has also been described in Turks and in regions of Spain and Portugal. A rare case of the Baltimore variety was discovered in an African American woman in the Bronx, New York and dubbed Hn Lepore-Bronx and another variety was discovered in the city of Saskatoon, Saskatchewan, Canada and dubbed Hb E-Lepore Saskatoon. Hemoglobin Lepore Baltimore A variant of Hemoglobin Lepore Syndrome. This is the only one of the three variants described in association with HbS. yes Hb Lepore Boston Syndrome Hb Lepore Washington Syndrome Hb Lepore Washington-Boston Syndrome Hemoglobin Lepore Washington Syndrome Hemoglobin Lepore Washington-Boston Syndrome Most common in Italians from Southern Italy. Hemoglobin Lepore Boston Disease A variant of Hemoglobin Lepore Syndrome. Hb Hollandia Was identified in Papua New Guinea and Bangladesh. Hemoglobin Lepore Hollandia 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. yes Hb Lepore Hb Lepore Syndrome Homozygous Hb Lepore Homozygous Hemoglobin Lepore Hemoglobin Lepore Syndrome The inheritance of the gene for hemoglobin Lepore from one parent and a gene for normal adult hemoglobin (hemoglobin A) form the other parent. yes Heterozygous Hb Lepore Individuals heterozygous for the Hb Lepore request no particular treatment. There is no anemia or, if there is, it is very mild. ("Hemoglobin Lepore syndrome", Wikipeadia, 01/2017) People heterozygous for haemoglobin Lepore (Hb ALepore) have no symptoms and a normal life expectancy. At the examination of their blood, one can see that the red blood cells are smaller and paler. It should be distinguished from an iron deficiency. (Enerca, 01/2017) Hemoglobin Lepore Trait A form of beta-thalassemia in which the patient is compound heterozygous for hemoglobin lepore and beta-thalassemia, which results in beta-thalassemia intermedia to beta-thalassemia major. Add HBD to Disease Modifiers (below Gene Product)? And link to it. yes Hb Lepore-B-Thalassaemia Hemoglobin Lepore-B-Thalassaemia Hemoglobin Lepore-Beta Thalassaemia Syndrome An important gene associated with Hemoglobin Lepore-Beta-Thalassemia Syndrome is HBD (Hemoglobin Subunit Delta), The Hb Lepore trait has a worldwide distribution and may affect individuals of various ethnicities however the three main varieties which been defined tend to be more prevalent among specific ethnic groups, typically Caucasians of the Southern regions Central and Eastern Europe. Transfusion therapy might be required. Hemoglobin Lepore-Beta Thalassaemia Hemoglobin M Disease is a blood disorder in which an abnormal amount of methemoglobin is produced. This seems to be a type of "Hereditary Methemoglobinemia", so should perhaps be added below that term? no Congenital Methemoglobinemia M Hemoglobinopathy Methemoglobinemia Blue Baby Syndrome Autosomal dominant inheritance. Hemoglobin M Disease A group of abnormal hemoglobins in which amino acid substitutions take place in either the alpha or beta chains but near the heme iron. This results in facilitated oxidation of the hemoglobin to yield excess methemoglobin which leads to cyanosis. MESH:D006449 no Hemoglobin M Trait A measure of the oxygen carrying pigment of erythrocytes. CMO:0000508 no Hemoglobin Measurement A very rare autosomal recessive hemoglobinopathy characterized by an abnormal form of hemoglobin called hemoglobin O-Arab. yes Hb O-Arab Homozygous Hb O-Arab Homozygous Hemoglobin O-Arab Affected gene: HBB gene (with an autosomal recessive pattern of inheritance) Affected protein: Hemoglobin subunit beta (UniProt Number: P68871) Amino acid substitution: 121 Glu --> Lys Found in people from the Balkans, the Middle East, and Africa. Mostly found in people from the Balkans, the Middle East, and Africa. Hemoglobin O-Arab Disease The inheritance of hemoglobin O-Arab from one parent and a gene for normal adult hemoglobin (hemoglobin A) form the other parent. yes Hb A/O-Arab Heterozygous Hb O-Arab Heterozygous Hemoglobin O-Arab Patients with this trait will not suffer from associated health problems except for minor anemia and microcytosis. Hemoglobin O-Arab Trait The type and relative amounts of various normal and abnormal hemoglobin types. yes Hemoglobin Profile A bioassay for hemoglobin classification. no PhenX protocol: Hemoglobin Characterization #830301 The PhenX protocol provided here can be used to identify and characterize the different variants in structure and synthesis of hemoglobin that cause sickle cell disease. Hb Electrophoresis Plus Solubility Hemoglobin Characterization Hemoglobin Electrophoresis Hemoglobin Electrophoresis plus Solubility Hemoglobin Fractionation Hemoglobinopathy Evaluation Profile Blood Test Hemoglobinopathy Fractionation Profile Blood Test Hemoglobin Profile Assay Hemoglobin Profiling In SNOMED CT this term is "Sickle cell identification" Sickle cell identification Hemoglobin S Test A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S. SCD-SS MESH:D000755 no Hb SS Disease Hb SS-Disease Hemoglobin SS Disease Homozygous Sickle Cell Disease SS and S/Beta-Zero Thalassemia Severe SCD Sickle Cell Anemia Sickle Cell Disease Sickle Cell Disease SS Sickle Cell Hemoglobin S Disease Affected gene: HBB gene (with an autosomal recessive pattern of inheritance) Affected protein: Hemoglobin subunit beta (UniProt Number: P68871) Sickle Cell Disease-SS A condition in which a person is heterozygous for a globin gene, with one normal allele and one defective allele. NCIT:C95534 yes Heterozygous Hemoglobinopathy Hemoglobin Trait The inheritance of some normal hemoglobin (hemoglobin FA) and some abnormal hemoglobin other than hemoglobin C,D,E,S or O-Arab. yes Hemoglobin Trait Other than C,D,E,S,O-Arab An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule. yes Sickle cell diseases include inheritance of the gene for sickle hemoglobin from one parent and one of the following: A gene for sickle hemoglobin from the other parent (Hb SS), A gene for another abnormal hemoglobin from the other parent (Hb SC, HbSD Punjab, HbSO Arab, HbS Leopore, or Hb SE), A gene that limits hemoglobin production from the other parent (sickle beta +/0 thalassemia). In S beta (+) thalassemia there is some production of beta globin, and in S beta (0) thalassemia there is no production of beta globin. Hemoglobinopathy Transient neonatal cyanosis anemia due to Toms River Hemoglobin Hemoglobinopathy Toms River, is also known as transient neonatal cyanosis and anemia due to toms river hemoglobin An important gene associated with Hemoglobinopathy Toms River is HBG2 (Hemoglobin Subunit Gamma 2). Hemoglobinopathy Toms River The presence of free hemoglobin in the urine. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0003641 no Presence of free hemoglobin in the urine, typically seen in setting of significant hemolysis. Discoloration of the urine without blood cells noted in the urine. Increased Urine Hemoglobin Level Hemoglobinuria A measurement of the concentration of iron in the liver as an estimate of body iron load. NCIT:C124065 no Hepatic Iron Liver Iron Liver Iron Concentration Hepatic Iron Concentration The distance between the lower border of the liver in the mid-clavicular line, and the upper border of the liver in the mid-clavicular line. The description needs to be reviewed by an expert. Also possibly request inclusion into Clinical Measurement Ontology, below "liver size measurement". yes Liver Span Hepatic Span A test for Hepatitis B Virus. Which Hepatitis B Test is to be referred to here? (There are various different types below "Immunology Test" in the "Sage Bionetworks Synapse Ontology") Hepatitis B Test A test for Hepatitis C Virus. Is this test for viral load measurement or or antibody measurement? (See terms below "Immunology Test" in the "Sage Bionetworks Synapse Ontology") Hepatitis C Test Hereditary methemoglobinemia (HM) is a rare red cell disorder classified principally into two clinical phenotypes: autosomal recessive congenital (or hereditary) methemoglobinemia types I and II (RCM/RHM type 1; RCM/RHM type 2). Francois. A case of congenital cyanosis without an apparent cause. Bull Acad Roy Med Belg 1845; 4:698. no Congenital Methemoglobinemia The first case of congenital methemoglobinemia was probably reported by Francois in 1845 when he described one of his patients with chronic congenital cyanosis without obvious cardiac or pulmonary disease . Hereditary Methemoglobinemia Hereditary persistence of fetal hemoglobin (HPFH, BrE: Hereditary persistence of foetal haemoglobin) is a benign condition in which significant fetal hemoglobin (hemoglobin F) production continues well into adulthood, disregarding the normal shutoff point after which only adult-type hemoglobin should be produced. HPFH no HPFH It was first discovered in Nigeria. Hereditary persistence of fetal hemoglobin has been encountered in Negroes in Uganda, Jamaica, United States, and in a single Caucasian family in Greece. Hereditary Persistence of Fetal Hemoglobin Column chromatography where the mobile phase is a liquid, the stationary phase consists of very small particles and the inlet pressure is relatively high. HPLC Perhaps change label to "Hemoglobin by High Performance Liquid Chromatography"? Exactsynonym "HPLC". See dc:source provided. no Used to measure percentage of globin in the blood. HPLC High Performance Liquid Chromatography High Pressure Liquid Chromatography High-Pressure Liquid Chromatography High-Performance Liquid Chromatography Replacement of the hip joint. MESH:D019644 no Hip Prosthesis Implantation Hip Replacement Arthroplasty Hip Replacements, Total Replacement Arthroplasties, Hip Total Hip Replacement Hip Replacement Arthroplasty A study that compares a group of participants receiving an intervention with a similar group from the past who did not. MESH:D065386 Historically Controlled Study A questionnaire to determine whether an individual has had a traumatic brain injury (TBI). PX130600 no PhenX protocol: History of Head Trauma #130601 Self This measure is used to screen an individual for a past traumatic brain injury. Traumatic brain injury can lead to a variety of psychiatric, cognitive, and physical problems. Adult, aged 18 or older History of Head Trauma A questionnaire to determine if the respondent has a history of kidney failure. Link to? Kidney Failure Personal Attribute---> Personal medical history PX140600 Only label adapted PhenX protocol: Personal History of Kidney Failure #140601 The risk of developing kidney disease is correlated with family history of kidney disease as well as several conditions (e.g., hypertension) and diseases (e.g., diabetes). History of Kidney Failure A questionnaire to determine if the respondent has had an ischemic infarction (i.e. stroke) and/or any symptoms related to this event. PX130300 no PhenX protocol: History of Stroke - Ischemic Infarction and Hemorrhage #130301 Self This measure is used to determine whether an individual has had a stroke and to assess the associated complications. Stroke, a loss of brain function due to disrupted blood flow, is the most common debilitating neurological condition in the United States and is the third leading cause of death. Stroke etiology is influenced both by genetic and environmental factors and risk factors include increasing age, systolic blood pressure, diabetes, atrial fibrillation, male gender, smoking and cardiovascular disease (Aminoff et al., 2005, Wolf et al., 1991). Adult, aged 18 or older History of Stroke - Ischemic Infarction and Hemorrhage A questionnaire to assess history of transfusion. PX830200 no PhenX protocol: History of Transfusion #830201 Blood transfusions, which are used to treat various medical conditions such as hemophilia, cancer, and sickle cell disease, expose patients to risks of infectious agents (e.g., HIV and hepatitis), iron overload, alloimmunization and hyperviscosity. Transfusion therapy can also impact the results of bioassays, such as complete blood count, reticulocyte count, cell-free hemoglobin, haptoglobin, aspartate aminotransferase, and measurements such as transcranial Doppler ultrasonography (TCD). History of Transfusion A questionnaire to determine a respondent’s history of type 1 or type 2 diabetes. Link to? Personal Attribute---> Personal medical history Only label adapted PhenX protocol: Personal History of Type 1 and Type 2 Diabetes #140501 This measure can be used to stratify a study population into those with diabetes and those without diabetes. History of Type I and Type 2 Diabetes This is a bio-assay to measure human immunodeficiency virus (HIV) antibodies. Also below "Immunochemical Assay"? no The measure determines whether a participant has human immunodeficiency virus (HIV) infection. Human Immunodeficiency Virus Test HIV Test The HADS consists of 2 subscales each with 7 items for measuring anxiety, and 7 items for depression rated from 0 - 3. Anxiety and depression scores were obtained by adding up the ratings of the items on each subscale. A score above 8 in any of the subscales indicates clinically significant anxiety or depression. Zigmond A.S. and Snaith R.P. (1983). The hospital anxiety and depression scale. Acta Psychiatry Scandinavia, 67, 361-370. Anie, K.A.; Green, J.; Tata, P.; Fotopoulos, C. E.; Oni, L. and Davies, S. C. (2002) Self-help manual-assisted cognitive behavioural therapy for sickle cell disease. Behavioural and Cognitive Psychotherapies, 30, 451-458 HADS Check and show which source was used for the description and whether the description was adapted from the source. multiple Patient Reported Outcome Clinic Patients Widely used around the world, also used in SCD Adults (18 to 91 years) HADS Hospital Anxiety and Depression Scale Hospital Anxiety and Depression Scale (HADS) The confinement of a patient in a hospital. MESH:D006760 no Hospital Admission Hospitalisation Hospitalisations Hospitalizations Hospitalization refers to being in a hospital or being placed in a hospital. It should not be confused with patient admission or patient re-admission. Hospitalization A record of those living in the respondent's household and about his or her relationship with them. Include under QoL? PX11400 yes PhenX protocol: Household Roster - Relationships #011402 Household rosters enumerate the people who live in the household and record some of the characteristics of those people (such as age and sex) and how they are related to one another. The data can be used to describe household size, structure, and composition. Household characteristics have an effect on the socioeconomics and lifestyles of the household inhabitants. Researchers are able to constitute family and nonfamily households from a household roster. This information also illustrates whether multiple generations of a family share the same residence. Household Roster-Relationships The quality or state of being hydrated; especially: the condition of having adequate fluid in the body tissues. This definition should probably be altered to be more suitable as a therapy. no Hydration 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. DB00327 no 3-hydroxy-17-methyl-4,5alpha-epoxymorphinan-6-one (-)-(5R)-4,5-Epoxy-3-hydroxy-9alpha-methylmorphinan-6-one 6-Deoxy-7,8-dihydro-6-oxomorphine Dihydromorfinon Dimorphone Hydromorphonum Idromorfone Hydromorphone The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0001789 no Fetal: severe fetal anemia, hemolytic anemias (Rh disease, alpha thalassemia), heart failure, tumors, twin to twin transfusions, deficiency of enzyme beta-glucuronidase, Niemann-Pick Disease, Gaucher Disease, Turner Syndrome, fetal cardiac defects and skeletal defects, Noonan Syndrome. Maternal: some vertically transmitted infections (syphilis, Parvovirus B19, citomegalovirus), hyperthyroidism. Edema, heart failure, pleural effusion, pericardial effusion, ascites, pallor, underactive fetus and newborn. Hydrops Fetalis An antineoplastic agent that inhibits DNA synthesis through the inhibition of ribonucleoside diphosphate reductase. DB01005 no Absorption: Well absorbed from the gastrointestinal tract. Half Life: 3-4 hours Indication: Hemoglobin SS Disease Mechanism of Action: Hydroxyurea is converted to a free radical nitroxide (NO) in vivo, and transported by diffusion into cells where it quenches the tyrosyl free radical at the active site of the M2 protein subunit of ribonucleotide reductase, inactivating the enzyme. The entire replicase complex, including ribonucleotide reductase, is inactivated and DNA synthesis is selectively inhibited, producing cell death in S phase and synchronization of the fraction of cells that survive. Repair of DNA damaged by chemicals or irradiation is also inhibited by hydroxyurea, offering potential synergy between hydroxyurea and radiation or alkylating agents. Hydroxyurea also increases the level of fetal hemoglobin, leading to a reduction in the incidence of vasoocclusive crises in sickle cell anemia. Levels of fetal hemoglobin increase in response to activation of soluble guanylyl cyclase (sGC) by hydroxyurea-derived NO. Metabolism: Hepatic Pharmacodynamics: Hydroxyurea has dose-dependent synergistic activity with cisplatin in vitro. In vivo Hydroxyurea showed activity in combination with cisplatin against the LX-1 and CALU-6 human lung xenografts, but minimal activity was seen with the NCI-H460 or NCI-H520 xenografts. Hydroxyurea was synergistic with cisplatin in the Lewis lung murine xenograft. Sequential exposure to Hydroxyurea 4 hours before cisplatin produced the greatest interaction. Route of Elimination: Renal excretion is a pathway of elimination. Toxicity: Oral, mouse: LD50 = 7330 mg/kg; Oral, rat: LD50 = 5760 mg/kg Teratogenicity: Teratogenic effects have occurred in experimental animals.Hydroxyurea use during a small number of human pregnancies has been reported. Adverse effects have not been observed in any of the exposed newborns. Reproductive Effects: Adverse reproductive effects have occurred in experimental animals. Mutagenicity: Mutagenic effects have occurred in experimental animals.Mutagenic effects have occurred in humans. Hydroxyurea Hydroxyurea-Induced Adverse Event Hydroxyurea-Induced Cutaneous Adverse Event Hydroxyurea-Induced Splenomegaly Adverse Event 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. HP:0000815 no In males: Congenital abnormalities ( Klinefelter's syndrome, Other chromosomal abnormalities); Mutation in the FSH and LH receptor genes, Cryptorchidism, Disorders of androgen biosynthesis, Myotonic dystrophy, Congenital anorchia, Varicocele. Acquired causes: infections; radiation; Alkylating and antineoplastic agent; Suramin; Ketoconazole; Glucocorticoids; Environmental toxins; trauma; Testicular torsion; Bilateral orchiectomy; Autoimmune damage; Chronic systemic diseases: Cirrhosis, Chronic renal failure, HIV, idiophathic. In females: genetic ( Turner Syndrome), chemotherapy, radiation, autoimmune primary ovarian insufficiency, premature ovarian failure. Hypergonadotrophic Hypogonadism Hypergonadotropic Hypogonadism Primary Hypogonadism An increased concentration of insulin in the blood. Provide source for additional info. HP:0000842 no Obesity, neoplasms, pancreatic cancer, polycystic ovary syndrome, trans-unsaturated fatty acids. Elevated insulin level Hyperinsulinemia Abnormally high potassium concentration in the blood, most often due to defective renal excretion. It is characterized clinically by electrocardiographic abnormalities (elevated T waves and depressed P waves, and eventually by atrial asystole). In severe cases, weakness and flaccid paralysis may occur. (Dorland, 27th ed). MeSH:D006947 no High Blood Potassium Levels Hyperkalemias Hyperpotassemia Hyperpotassemias Hyperkalemia 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. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0000962 no Inherited (epidermolytic, follicular, hyperkeratosis lenticula ris per stan) or acquired (chronic inflammation, infection, chemical irrtiants, radiations sunlight. Corns, calluses, warts, chronic eczema, lichen planus, actinic keratoses, seborrheic keratoses. Hyperkeratosis An elevated lipid concentration in the blood. HP:0003077 no Hyperlipidemia Excessive growth or abnormal thickening of bone tissue. Provide source for additional info. HP:0100774 no May be inherited, or due to excess of growth hormone, Paget's disease,Virchow's disease, Crouzon disease. Benign overgrowth of the bone. Bone Hypertrophy Bone Overgrowth Hyperostosis Excessive production of parathyroid hormone (PTH) by the parathyroid glands. Provide source for additional info. HP:0000843 no Primary: adenoma, hyperplasia or carcinoma of the gland. Secondary: hypocalcemia, vitamin D deficiency, chronic kidney failure. Hyperfunction of the parathyroid glands that may produce any or non-specific symptoms. They can be: weakness , fatigue, depression, bone pain, decreased appetite, nausea, vomiting, constipation, polyuria, polydipsia. Elevated Blood Parathyroid Hormone Level Hyperparathyroidism Hyperpigmentation is a common, usually harmless condition in which patches of skin become darker in color than the normal surrounding skin, the darkening occurs when an excess of melanin, the brown pigment that produces normal skin color, forms deposits in the skin. www.aocd.org Perhaps merge with "Cutaneous Hyperpigmentation"? Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. MP:0001188 yes Inherited e.g freckles or acquired (sun damage, harmonal, trauma, skin disease such as acne). Freckles, chloasma spots, acne, lentigines. Hyperpigmentation 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. HP:0000836 no Autoimmune diseases (Graves', Hashitoxicosis), toxic adenoma, toxic multinodular goiter, TSH-producing pituitary adenoma, Non-neoplastic TSH-mediated hyperthyroidism, Hyperemesis gravidarum, Trophoblastic disease. Tyroiditis: ( Subacute granulomatous (de Quervain's); Painless thyroiditis - silent thyroiditis, lymphocytic thyroiditis; Postpartum thyroiditis; Amiodarone; Radiation; Palpation. Exogenous: Excessive replacement therapy, Intentional suppressive therapy, Factitious hyperthyroidism, Ectopic hyperthyroidism: Struma ovarii, Metastatic follicular thyroid cancer. Anxiety, emotional lability, weakness, tremor, palpitations, heat intolerance, increased perspiration, and weight loss despite a normal or increased appetite. Milder symptoms may appear. Enlargement of the Thyroid gland may be present depending on the cause. Overactive Thyroid Hyperthyroidism An abnormally high level of uric acid in the blood. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0002149 no Genetic background, insulin resistance, hypertension, renal insufficiency, obesity, purin-rich diet, use of diuretics, salycilates, pyrazinamide, ethambutol, nicotinic acid, cyclosporin, cytotoxic agents, consumption of alcohol, tumor lysis syndrome, starvation, very low calorie diet. High blood uric acid level Hyperuricaemia Hyperuricemia Bleeding in the anterior chamber of the eye. Ballas et al 2010 Am J Hematol Gharaibeh et al 2013 Cochrane Database Syst Rev Mowatt et al 2010 Eur J Ophthalmol Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0011886 no Often follows trauma, which may be minimal, risk increased in people with sickle cell trait and sickle cell disease. History of trauma or surgery. Diagnostic Criteria: Simple inspection of the anterior chamber through the transparent cornea. A very bright focal beam of light is usually sufficient for visualization of blood. The presence of sickling of the erythrocytes within the anterior chamber's fluid cannot be determined by visual inspection, even with the magnification afforded by the slit lamp biomicroscope. Hyphema in patients with SCD and in individuals with sickle cell trait may lead to mechanical obstruction of the flow of aqueous humor, culminating in increasing the pressure of the entire eye. If the blood flow is substantially compromised in the retina or optic nerve at the back of the eye, as a result of the events in the front of the eye, irreversible blindness may occur quickly and without warning. Hyphema, therefore, should be considered an emergency in patients with SCD or in individuals with sickle cell trait. Hyphema Drugs used to induce drowsiness or sleep or to reduce psychological excitement or anxiety. MESH:D006993 no Sedatives and Hypnotics Hypnotics Sedatives Effect, Hypnotic Effects, Hypnotic Hypnotic Effect Hypnotic Effects Sedative Effect Hypnotics and Sedatives A decreased concentration of glucose in the blood. Provide source for additional info. HP:0001943 no Use of certain medications ( insulin, sulfonilureas, biguanides), some drugs (alcohol), kidney failure, certain tumors, liver disease, hypothyroidism, starvation, inborn error of metabolism, severe infections, reactive hypoglicemia, hormone deficiency ( Addison's disease). May occur: shakiness, palpitations, sweating, pallor, mydriasis, hunger, borborygmus, nausea, vomiting, headache, weakness,irritability, confusion, double vision. Low Blood Sugar Hypoglycemia A reduction of skin color related to a decrease in melanin production and deposition. Mini review: Acta Derm Venereol 2010; 90: 6-11. A Practical Classification of Childhood Hypopigmentation Disorders. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0001010 no Genetic or acquired. Generalized or loclaized decreased pigmentation of the skin. Hypopigmentation Absence of neurologic reflexes such as the knee-jerk reaction. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0001284 no Some of the common causes may include: myxedema; cretinism; cerebral palsy; Parkinsonism; lower motor neuron lesions; antidepressants. Depressed tendon reflexes Hyporeflexia Deficiency of thyroid hormone. Provide source for additional info. HP:0000821 no Dysfuncion of the Tyroid glane due to Thyroiditis, inflammation, viral infection, Radiation Therapy, medications, Thyroid Surgery, too little iodine in the diet, pregnancy. Fatigue, changes in the menstrual cicle, constipation, depression, dry hair, hair loss, dry skin, high sensitivity to cold, slow heart rate, unexplained weight gain or difficulty loosing weight, swelling of the thyroid gland (goiter), carpal tunnel syndrome. Low T4 Underactive Thyroid Hypothyroidism An abnormally low level of blood oxygen. HP:0012418 no Low Blood Oxygen Level Hypoxemia Ibuprofen, a propionic acid derivative, is a prototypical nonsteroidal anti-inflammatory agent (NSAIA) with analgesic and antipyretic properties. Were these specific synonyms selected form the long list in the description source because of specific relevance to SCD? DB01050 no 2-[4-(2-methylpropyl)phenyl]propanoic acid (+-)-alpha-methyl-4-(2-methylpropyl)benzeneacetic acid (+-)-ibuprofen (+-)-p-isobutylhydratropic acid Adran Ibumetin Liptan alpha-(p-isobutylphenyl)propionic acid Ibuprofen ICD-10-CM Diagnosis Codes The IPQ-R is an 84-item self-completed instrument developed to provide a quantitative measurement of the components of illness representations, as described by Leventhal's Common-Sense Model (CSM) of selfregulation it is divided into 3 sections: identity subscale (14 symptoms), causal subscale (18 causes), and a third section which contains 7 subscales, including consequences, timeline acute/chronic and cyclical, personal and treatment control/cure, illness coherence, and emotional representations. The questionnaire wording can be adapted to the specific illness by replacing the word illness with the name of the condition. For the identity subscale, respondents are asked if they have experienced a number of symptoms since their illness, and if they feel the symptoms are related to their current illness. Response is by circling ‘yes’ or ‘no’ to each question. Responses are then summed to give an overall score. For the causal subscale, respondents are asked what they perceive to be the cause of their illness and are asked to respond to each of the listed causes using a 5-point Likert style scale, ranging from strongly disagree to strongly agree. Respondents are also asked to rank the 3 most important factors believed to be the cause of their illness. The third section (7 subscales) is scored by summing responses to each item is on a 5-point Likert style scale, ranging from strongly disagree to strongly agree. All items for each of the subscales are summed to give an overall score. High scores on the identity, consequences, timeline acute/chronic and cyclical subscales represent strongly held beliefs about the number of symptoms attributed, the negative consequences, and the chronicity and cyclical nature of the illness. High scores on the personal and treatment control and coherence subscales represent positive beliefs about controllability and a personal understanding of the illness. Moss-Morris R, Weinman J, Petrie KJ, Horne R, Cameron LD, Buick D (2002). The Revised Illness Perception Questionnaire (IPQ-R). Psychol Health 17:1-16. IPQ-R Check and show which source was used for the description and whether the description was adapted from the source. multiple Patient Reported Outcome Clinic Patients many Good psychometric properties, widely used around the world, has been translated into several languages. Adults IPQ-R Illness Perception Questionnaire Revised Illness Perception Questionnaire Revised (IPQ-R) An imaging assay is an assay to produce a picture of an entity. Perhaps replace this term with "Diagnostic Imaging" from NCIT? OBI:0000185 no Imaging Assay Imaging Test TCDi TCDi Imaging Transcranial Doppler Ultrasonography A test that employs ultrasonography, 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. yes Ultrasonography Immaging by Ultrasonography Ultrasonography Test The body's defense mechanism against foreign organisms or substances and deviant native cells. It includes the humoral immune response and the cell-mediated response and consists of a complex of interrelated cellular, molecular, and genetic components. MESH:D007107 no Immune System Methods for the quantitative analysis of chemical substances, such as proteins, that utilize the highly specific binding between an antigen or hapten and homologous antibodies. yes Immunochemical Assay Laboratory test involving interaction of antigens with specific antibodies. Only label adapted Immunoassay Immunological Laboratory Method Immunology Test Immunological Assay A drug adverse event that has an outcome of decreased levels of immunosuppressant drugs in the patient's body. OAE:0001071 no Immunosuppressant Drug Level Decreased AE An assay employing immunoturbidimetry, a method that measures the absorbance of light from a sample which is used for quantifying an amount of analyte based on the level of turbidity produced by the formation and precipitation of an immune complex containing the analyte. yes Immunoturbidimetry Immunoturbidimetry Assay A defect in the ability to concentrate the urine. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0004727 no 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. Excretion of urine of which the specific gravity is similar to that of plasma ; isosthenuria - pathologic consequence, urine specific gravity is similar to that of plasma (1.008-1.012) ; hyposthenuria urine specific gravity is lower than that of plasma < 1.008. Urinare Concentrating Defect Urinare Concentration Defect Impaired Urinary Concentration Reduced ability or inability to self-repair and close wounds. Medscape: Chronic wound: Author: Jorge I de la Torre, MD, FACS; Chief Editor: Joseph A Molnar, MD, PhD, FACS more Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. MP:0001792 no Diabetic sores, pressure soure, venous stasis ulcers. Impaired immunity, infection, foreign body, neuropathic impairment, pressure over bony prominences, hypoxia in areas of venous congestion. Wounds that take longer than normal to self repair. Delayed Wound Healing Impaired Wound Repair Impaired Wound Healing 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. HP:0011001 no 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. Bone Sclerosis Increased Bone Density Osteosclerosis of Bones Increased Bone Mineral Density Osteosclerosis 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. HP:0045048 Only label adapted Increased Hemoglobin A2 Greater likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria. Source needed for additional info and this term must be included under "Immune System". MP:0002412 no Multifactorial generally factors ultimately cause impaired immunity. Repeated/recurrent local or systemic bacterial infections. Decreased Resistance to Bacterial infection Increased Susceptibility to Bacterial Infection Invasion of the host organism by microorganisms that can cause pathological conditions or diseases. Farlex Partner Medical Dictionary Farlex 2012 Perhaps use Bacterial Infection and Viral Infection as modifiers? Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. MESH:D007239 no Infection An organism that has an infectious disposition. OBI:0000925 yes Infection Infectious Agent Inability to produce live offspring Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. MP:0001924 no Drugs, endocrine diseases, genetic. Lack of capacity Sterile Infertility A viral vaccine that protects against infection with influenza virus. VO:0000642 no Influenza Virus Vaccine Substances causing insects to turn away from them or reject them as food. MESH:D007302 no Insect Repellents Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. Provide source for additional info. HP:0000855 no Diet high in fats and carbohydrates, obesity, genetic predispositon, sedentary lifestyle, protease inhibitors. May have no symptoms, or: brain fogginess and inability to focus, high glucose levels, intestinal bloating, sleepiness, weight gain, increased trygliceride levels, increased blood pressure, acanhosis nigricans, increased hunger, depression. Insulin Resistance This measure provides an estimate of an individual’s overall global intellectual function. Should these also/rather be included below QoL? no Impairments in general cognitive function, as measured by the intelligence quotient (IQ), are associated with some genetic diseases (e.g., Down’s syndrome, Fragile X syndrome, sickle cell disease [SCD]), stroke, prematurity, nutritional deficiencies, and use of drugs and alcohol. Intelligence Scale 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. yes PhenX protocol: Intelligence Scale - 16 to 90 years #820501 16 to 90 years old This is a proprietary instrument and is available online from Pearson. WAIS-IV Wechsler Adult Intelligence Scale, Fourth Edition Wechsler Adult Intelligence Scale, Fourth Edition (WAIS-IV) 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. Intelligence Scale - 16 to 90 years 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. yes PhenX protocol: Intelligence Scale - 2 years, 6 months to 7 years, 7 months #820502 2 years and 6 months to 7 years and 7 months This is a proprietary instrument and is available online from Pearson WPPSI-IV Wechsler Preschool and Primary Scale of Intelligenc-Fourth Edition Wechsler Preschool and Primary Scale of Intelligenc-Fourth Edition (WPPSI-IV) 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. Intelligence Scale - 2 years, 6 months to 7 years, 7 months A battery of tests that allow an investigator to conduct a comprehensive evaluation of a child or adolescent’s cognitive ability. yes PhenX protocol: Intelligence Scale - 6 to 16 years 11 months #820503 Spanish 6 years to 16 years and 11 months This is a proprietary instrument and is available online from Pearson. WISC-V Wechsler Intelligence Scale for Children-Fifth Edition Wechsler Intelligence Scale for Children-Fifth Edition (WISC-V) 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. Intelligence Scale - 6 to 16 years 11 months A standardized tool designed to assess a child’s development as compared to same-age peers. It has components that involve both direct observation and interaction with a child as well as caregiver questionnaires. It consists of five domains (cognitive, motor, language, social-emotional, and adaptive behavior). yes PhenX protocol: Intelligence Scale - Birth to 3.5 years #820504 birth to age 3 years, 6 months Bayley-III is a proprietary instrument and is available online from Pearson. A fee is associated with the Bayley-III, and this fee is dependent upon various factors, such as if the Bayley-III is purchased as a kit (i.e., questionnaires, manuals, or forms) or in individual components. Bayley Scales of Infant and Toddler Development, Third Edition Bayley Scales of Infant and Toddler Development, Third Edition (Bayley-III) Bayley-III Life stage: Infant, Toddler, Child The Sickle Cell Disease Neurology, Quality of Life, and Health Services Working Group recognizes that there is an age overlap between the Bayley-III and the Wechsler Preschool and Primary Scale of Intelligence-Fourth Edition (WPPSI - IV). The Working Group recommends that providers use their clinical judgment, consider the purpose of testing participants, and refer to the frequently asked questions section of the Pearson website for Bayley-III and the WPPSI-IV for guidance on selecting an age-appropriate test. Intelligence Scale - Birth to 3.5 years An adverse drug event that results in the intentional use of a drug in the wrong way (recreationally etc). OAE:0001093 no Intentional Drug Misuse AE A study that uses observations at multiple time points before and after an intervention (the "interruption"), in an attempt to detect whether the intervention has had an effect significantly greater than any underlying trend over time. Interrupted Time Series Analysis A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0001970 no May have a variety of causes, most often caused by drugs (NSAIDs, Proton pump inhibitors, antibiotics), infections (Legionella, TB, many others), toxic (heavy metals, etc.) or associated with systemic disease (Sjogrens, sarcoidosis). Nonspecific findings of kidney injury (elevated creatinine), may have symptoms related to underlying cause - drug induced may present with allergic type symptoms including rash, fever. Other autoimmune causes may present with symptoms of underlying disease. Tubulointerstitial Interstitial Nephritis Intracerebral hemorrhage (ICH) is when blood suddenly bursts into brain tissue, causing damage to the brain. Should this term be merged with "Cerebral Hemorrhage" and "Intracerebral Haemorrhage" made a synonym of "Cerebral Hemorrhage"? Specify description source and source for additional info. no High blood pressure is the most common cause of intracerebral hemorrhage. In younger people, another common cause is abnormally formed blood vessels in the brain. Other causes include: head injury or trauma, ruptured cerebral aneurysm (weak spot in a blood vessel that bursts), arteriovenous malformation (a grouping of malformed blood vessels in the brain that disrupts normal blood flow), use of blood thinners, bleeding tumours, cocaine use (can cause severe hypertension and lead to hemorrhage), bleeding disorders (e.g., hemophilia, sickle cell anemia). Symptoms of ICH include: sudden weakness, tingling, or paralysis in the face, arm, or leg, especially if it occurs on only one side of the body, sudden onset of severe headache, trouble swallowing, trouble with vision in one or both eyes, loss of balance and coordination, dizziness,trouble with language skills (reading, writing, speaking, understanding), nausea, vomiting, apathy, sleepiness, lethargy, loss of consciousness, confusion, delirium. Intracerebral Bleeding Intracerebral Haemorrhage Intracerebral hemorrhage (ICH) is a type of stroke caused by bleeding within the brain tissue itself. ICH Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. yes Ten percent of strokes are caused by ICH (approximately 70,000 new cases each year). ICH is twice as common as subarachnoid hemorrhage (SAH) and has a 40% risk of death. ICH occurs slightly more frequently among men than women and is more common among young and middle-aged African Americans and Japanese. Advancing age and hypertension are the most important risk factors for ICH. Approximately 70% of patients experience long-term deficits after an ICH. Hypertension: an elevation of blood pressure that may cause tiny arteries to burst inside the brain. Blood thinner therapy: drugs such as coumadin, heparin, and warfarin used to treat heart and stroke conditions. AVM: a tangle of abnormal arteries and veins with no capillaries in between. Aneurysm: a bulge or weakening of an arterial wall. Head trauma: fractures to the skull and penetrating wounds (gunshot) can damage an artery and cause bleeding. Bleeding disorders: hemophilia, sickle cell anemia, DIC, thrombocytopenia. Tumors: highly vascular tumors such as angiomas and metastatic tumors can bleed into the brain tissue. Amyloid angiopathy: a degenerative disease of the arteries. Drug usage: cocaine and other illicit drugs can cause ICH. Spontaneous: ICH by unknown causes. Symptoms usually come on suddenly and can vary depending on the location of the bleed. Common symptoms include: headache, nausea, and vomiting; lethargy or confusion; sudden weakness or numbness of the face, arm or leg, usually on one side; loss of consciousness; temporary loss of vision; seizures. Intracranial Hemorrhage An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. HP:0002516 no Intracranial Hypertension Intracranial Hypertension Intracranial hypotension, also known as craniospinal hypotension is defined as CSF pressure less than 7 cm of H2O in patients with clinical presentation compatible with intracranial hypotension, which are postural headache, nausea, vomiting, neck pain, visual and hearing disturbances, and vertigo It most commonly results from CSF leaks somewhere along the neuraxis. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. no Spontaneous intracranial hypotension is typically encountered in middle age (30-50 years of age) and has a predilection for women (F:M 2:1). Of interest, this is a similar demographic to pseudotumour cerebri, which is believed to be an unrecognised predisposing factor. Epidemiology of secondary intracranial hypotension is variable and matches that of the underlying cause. Intracranial hypotension can broadly be divided into: 1.Primary: usually referred to as spontaneous intracranial hypotension. 2. Secondary: iatrogenic (LP or surgery), over shunting due to diversion devices or traumatic. It most commonly results from CSF leaks somewhere along the neuraxis, and leads to alterations in the equilibrium between the volumes of intracranial blood, CSF, and brain tissue (Monro-Kellie hypothesis). A decrease in CSF volume leads to compensatory dilatation of the vascular spaces, mostly venous side due to its higher compliance. Spontaneous intracranial hypotension (SIH) is usually the result of a CSF leak in the spine due to spontaneous dural dehiscence of meningeal diverticulums (perineural cyst), secondary to degenerative dural tears (typically related to calcified thoracic disc protrusions) or rarely due to congenital focal absence of dura (nude nerve root). Much less frequently, but increasingly recognised, SIH can result from small medial sphenoid meningocoeles, often in patients with undiagnosed pseudotumour cerebri. It is also more commonly seen in connective tissue disorders, including Marfan syndrome Ehlers-Danlos syndrome (type II), and autosomal dominant polycystic kidney disease (ADPKD). In many instances, the manifestation of these syndromes may be subtle or not fit into defined syndromes. CSF leaks can also be iatrogenic, following lumbar puncture, surgery, secondary to over shunting, or trauma.  Generally, there are no localising symptoms forms directly from the leak, as CSF is absorbed into tissues. The condition often presents as a positional headache which is relieved by a recumbent position, usually within 15-30min. It is confirmed by assessing opening pressure on LP (less than 7 cm CSF). Note that when this is done fluoroscopically, it should be performed in a lateral position to allow for accurate measurement of pressure. Occasionally presentation is more sinister, with even decreased level of consciousness and coma reported. Intracranial Hypotension The hydrostatic pressure of blood in the marrow of long bones. Term should be requested for inclusion into the "Ontology of Biological Attributes", perhaps in an appropriate location under "organ system trait". yes IOP Intraosseous Pressure An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. IUGR Provide source for additional info. HP:0001511 no Maternal: malnutrition, lack of adequate oxygen supply to the fetus, anemia, smoking, alcohol and/or drug use, recent pregnancy, gestacional diabetes, pulmonary or cardiovascular disease, renal disease, hypertension, other chronic diseases; uteroplacental: preeclampsia, multiple gestation, uterine malformations, placental insufficiency; fetal: chromosomal abnormalities, vertically transmitted infections. Insufficient growth of the foetus. IUGR Intrauterine Growth Retardation Prenatal Growth Retardation Prenatal-Onset Growth Retardation Small for Gestational Age Infant Intrauterine Growth Restriction A hypoperfusion of the blood through an organ or tissue caused by a pathologic constriction or obstruction of its blood vessels, or an absence of blood circulation. MESH:D007511 no Ischemias Ischemia Electrophoresis in which a pH gradient is established in a gel medium and proteins migrate until they reach the site (or focus) at which the pH is equal to their isoelectric point. Perhaps change label to "Hemoglobin Isoeletcric Focusing"? Exactsynonym "Hb IEF". See dc:source provided. D007525 no Electrofocusing Isoeletcric Focusing 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. MP:0013305 no Impaired Urine-Concentrating Ability Urine Concentrating Defect Isosthenuria Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. HP:0000952 no Hemolysis and inflammation of the liver. Yellowing of the sclera and/or the skin. Icterus Yellow Skin Yellowing of the Skin Cholestatic Jaundice Scleral Icterus Jaundice The ability of a joint to move beyond its normal range of motion. Provide source for additional info. HP:0001382 no Misaligned joints, abnormally shaped ends of one or more bones at a joint, a Type 1 collagen or other connective tissue defect (as found in Ehlers-Danlos syndrome, Loeys-Dietz syndrome and Marfan syndrome). Hyperextensible Joints Increased Mobility of Joints Joint Hyperextensibility Joint Hypermobility A term used pathologically to describe BILIRUBIN staining of the BASAL GANGLIA; BRAIN STEM; and CEREBELLUM and clinically to describe a syndrome associated with HYPERBILIRUBINEMIA. Clinical features include athetosis, MUSCLE SPASTICITY or hypotonia, impaired vertical gaze, and DEAFNESS. Nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the BLOOD-BRAIN BARRIER (e.g., SEPSIS). This condition occurs primarily in neonates (INFANT, NEWBORN), but may rarely occur in adults. (Menkes, Textbook of Child Neurology, 5th ed, p613) Check and show which source was used for the description and whether the description was adapted from the source. Kernicterus 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. Some sources give "Renal Insufficiency" as an exact synonym. Source needed for additional info. MP:0003606 no 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. Renal Insufficiency Renal Failure Treatment is dependent upon etiology and acuity. If refractory to medical therapy, renal replacement or dialysis may be indicated. Kidney Failure Laboratory tests used to evaluate how well the kidneys are working through examination of blood and urine. MESH:D007677 no Kidney Function Tests Renal Function Test Renal Function Tests Kidney Function Test A specialized area of medicine in which exercise and movement are used as the primary form of rehabilitation. no Kinesiotherapy Collections of facts, assumptions, beliefs and practices that health professionals hold about the aetiology, pathophysiology, quality management of SCD and related social support system based on global standards. yes Knowledge about Sickle Cell Disease Exaggerated anterior convexity of the thoracic vertebral column. Provide source for additional info. HP:0002808 no Vertebral fractures, Low bone density, Short vertebral height, Degenerative disc disease, Postural changes, Muscle weakness, loss of elastic tissues of the Intervertebral ligaments, Genetic/metabolic conditions: osteogenesis imperfecta, Ehlers Danlos Syndrome, Marfan syndrome, cystic fibrosis, mucopolysaccharidoses, spondylo-epiphyseal dysplasia, and Scheuermann's disease. Other causes: congenital kyphosis and neurofibromatosis, spondylolisthesis, ankylosing spondylitis, spinal tuberculosis, post laminectomy syndrome and other complications from spinal surgical procedures. Sagittal convexity, or forward curvature, of the normal thoracic spine which can range from normal to abnormal. Gibbus Deformity Hunched Back Hyperkyphosis Round Back Kyphosis A quantitative measurement of the amount of lactate dehydrogenase present in a sample of serum. NCIT:C61026 Only label adapted LD Measurement LDH Measurement Lactate Dehydrogenase Measurement Lactic Acid Dehydrogenase Measurement Serum Lactate Dehydrogenase Measurement Lactate Dehydrogenase Level A bioassay to measure levels of lactate dehydrogenase, an enzyme released during tissue damage and injury. PX811000 no PhenX protocol: Lactate Dehydrogenase Level #811001 Elevated lactate dehydrogenase (LDH) levels are reflective of increased hemolysis in sickle cell disease. Additionally, elevated LDH levels are associated with cancer, tissue damage, hemolysis and anemia, and infectious diseases such as HIV and bacterial meningitis. LDH Test Lactate Dehydrogenase Level Test Lactic Acid Dehydrogenase Test Lactate Dehydrogenase Test Open sore on lower extremity that is slow to heal. Such sores are debilitating due to severe pain, swelling, disfiguration. MESH:D007871 yes Skin Ulcer Skin Ulcers Leg Ulcers Leg Ulcer A weakness affecting lower or hind limbs. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. MP:0009434 Myopathy, malnutrition, inherited metabolic diseases, metabolic disturbances, muscle atrophy. Hindlimb Weakness Leg Weakness A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. HP:0001909 no Blood Cancer Leukaemia Typical way of life or manner of living characteristic of an individual or group. (From APA, Thesaurus of Psychological Index Terms, 8th ed) MESH:D008019 no Life Style Lifestyle The coagulation of tissue by an intense beam of light, including laser (LASER COAGULATION). In the eye it is used in the treatment of retinal detachments, retinal holes, aneurysms, hemorrhages, and malignant and benign neoplasms. (Dictionary of Visual Science, 3d ed) MESH:D008028 no Photocoagulations Laser Coagulation Light Coagulation Use relevant object property to link to "Elevated Hepatic Iron Concentration". Detecting "Elevated Hepatic Iron Concentration". Liver Biopsy Any process carried out to determine the condition of a patient's liver. IDODEN:0003652 no Liver Examination This is a measure to assess liver functionality and cellular integrity. PX190800 no PhenX protocol: Liver Function Assay #190801 This is a screener to detect the presence and type of liver disease and determine the extent of damage to the liver. Liver Function Assay Liver Function Test Personality construct referring to an individual's perception of the locus of events as determined internally by his or her own behaviour versus fate, luck, or external forces. MESH:D007389 no Health Locus of Control Perception Self-confidence Social Control Locus of Control Studies in which variables relating to an individual or group of individuals are assessed over a period of time. Longitudinal Studies A sampling methodology using small sample sizes when conducting surveys in small geographical or population-based areas or lots. MESH:D055810 Lot Quality Assurance Sampling 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 MP:0000183 no low circulating LDL cholesterol level Low LDL-Cholestrol Levels Measurement of the amount of air that the lungs may contain at various points in the respiratory cycle. Perhaps use the "DEFINITIONS AND SUBDIVISIONS OF LUNG VOLUME" section in the "Lung Function - Lung Volume #810401" protocol source in PhenX to include types of lung volume as subclasses. Can also use subclasses of Experimental Factor Ontology (EFO) term "pulmonary function measurement". no Lung volume can be used to differentiate obstructive and restrictive pulmonary conditions and to detect and quantify symptoms associated with conditions that impact the lung, such as sickle cell disease, cystic fibrosis, and obstructive airway disease. Lung Capacities Lung Capacity Lung Volume Lung Volume Measurements Lung Volume Measurement Clinical assessment to determine the volume of gas within an individual's lung. Link to necessary medical device. Perhaps use the protocol source in PhenX to include different ways of measuring FRC (functional residual capacity) as subclasses (e.g. Measurement of FRC using body plethysmography, Measurement of FRC using nitrogen washout, Measurement of FRC using helium dilution, Measurement of lung volume using imaging techniques). PX810400 Only label adapted PhenX protocol: Lung Function - Lung Volume #810401 The American Thoracic Society (ATS) and the European Respiratory Society (ERS) Task Force recommendations for standardisation of the measurement of lung volume testing outline how to obtain measurement of functional residual capacity (FRC) using body plethysmography, nitrogen washout, helium dilution, and imaging techniques. In addition, this source contains details regarding the assessment of total lung capacity (TLC), vital capacity (VC), reserve volume (RV), expiratory reserve volume (ERV), and inspiratory capacity (IC). These recommendations for standardization of the measurement of lung volume testing are part of a series of recommendations by the ATS/ERS Task Force for the standardization of lung function testing, which can be found on the ATS website. Detailed information regarding patient preparation is included in the general considerations document for lung function testing in this series. Lung volume can be used to differentiate obstructive and restrictive pulmonary conditions and to detect and quantify symptoms associated with conditions that impact the lung, such as sickle cell disease, cystic fibrosis, and obstructive airway disease. Lung Function - Lung Volume Lung Volume Assay Pulmonary Volume Assay Pulmonary Volume Test The American Thoracic Society (ATS) and the European Respiratory Society (ERS) Task Force recommendations for standardisation of the measurement of lung volume testing outline how to obtain measurement of functional residual capacity (FRC) using body plethysmography, nitrogen washout, helium dilution, and imaging techniques. In addition, this source contains details regarding the assessment of total lung capacity (TLC), vital capacity (VC), reserve volume (RV), expiratory reserve volume (ERV), and inspiratory capacity (IC). These recommendations for standardization of the measurement of lung volume testing are part of a series of recommendations by the ATS/ERS Task Force for the standardization of lung function testing, which can be found on the ATS website. Detailed information regarding patient preparation is included in the general considerations document for lung function testing in this series. Lung Volume Test The lymphatic system in vertebrates is a network of conduits that carry a clear fluid called lymph. It also includes the lymphoid tissue through which the lymph travels. Lymphoid tissue is found in many organs, particularly the lymph nodes, and in the lymphoid follicles associated with the digestive system such as the tonsils. The system also includes all the structures dedicated to the circulation and production of lymphocytes, which includes the spleen, thymus, bone marrow and the lymphoid tissue associated with the digestive system. UBERON:0002465 no Lymphatic Drainage System Lymphoid System A cancer originating in lymphocytes and presenting as a solid tumor of lymphoid cells. HP:0002665 no Painless swelling of the lymph nodes (glands), often in the neck or armpits where these nodes are concentrated. Swelling may also occur in the groin and abdomen. Lymphoma 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. Techniques that uses magnetic fields and radiowaves to form images, typically to investigate the anatomy and physiology of the human body. NCIT:C16809 no You may be asked to wear a hospital gown or clothing without zippers or snaps (such as sweatpants and a t-shirt). Certain types of metal can cause blurry images. You will lie on a narrow table, which slides into a large tunnel-shaped scanner. Some exams require a special dye (contrast). Most of the time, the dye will be given through a vein (IV) in your hand or forearm before the test. The dye helps the radiologist see certain areas more clearly. Small devices, called coils, may be placed around the head, arm, or leg, or around other areas to be studied. These help send and receive the radio waves, and improve the quality of the images. During the MRI, the person who operates the machine will watch you from another room. The test lasts about 30 to 60 minutes, but may take longer. Having MRIs with other imaging methods can often help your doctor make a diagnosis. MRI images taken after a special dye (contrast) is delivered into your body may provide extra information about the blood vessels. A magnetic resonance angiogram (MRA), is a form of magnetic resonance imaging that creates 3-dimensional pictures of blood vessels. It is often used when traditional angiography cannot be done. MRI MRT Magnetic Resonance Tomography NMR Imaging NMRI Nuclear Magnetic Resonance Imaging A normal result means the body area being studied looks normal. Magnetic Resonance Imaging The use of drugs or other agents to prevent malarial infection. Examples: Proguanil, mefloquine, artesunate, insect repellant, insecticide-treated-bednet. yes Malaria Prevention Malaria Prophylaxis An instrument that is used for measuring the pressure of liquids and gases. Request inclusion into "Eagle-I Research Resource Ontology", below the "instrument" term. The American Heritage Science Dictionary. Retrieved October 20, 2016 from Dictionary.com website no Manometer The marital status of the respondent’s primary caregiver (i.e. family member or another individual who takes primary responsibility for the respondent). Include under QoL? PX840100 yes PhenX protocol: Marital Status of Primary Caregiver #840101 Marital status of the primary caregiver is associated with socioeconomic status, academic achievement, health status and outcomes, insurance coverage, and health care utilization. Marital Status of Primary Caregiver 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. MCHC CMO:0000291 no MCHC Mean Corpuscular Haemoglobin Concentration Mean Corpuscular Hemoglobin Concentration The average amount of hemoglobin per red blood cell caculated by dividing the total mass of hemoglobin by the number of red blood cells in a volume of blood. MCH CMO:0000290 no MCH Mean Corpuscular Haemoglobin Mean Corpuscular Haemoglobin Level Mean Corpuscular Hemoglobin Mean Corpuscular Hemoglobin Level A mean corpuscular volume is the result of calculation of the mean volume of erythrocytes in a blood sample. 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. CMO:0000038 no MCV Mean Cell Volume Mean Corpuscular Volume A questionnaire to capture the frequency of acute pain episodes per year due to sickle cell disease (SCD). PX830100 Label and description adapted PhenX protocol: Frequency of Sickle Cell Pain Episodes Per Year #830101 Self Clinic Patients (Adults with SCD) Frequency of acute sickle cell pain episodes is correlated with disease severity and early mortality. 18 and older yes The Sickle Cell Disease Research and Scientific Panel (SRSP) notes that a pain episode is pain lasting at least two hours that requires an unscheduled emergency room visit or hospitalization or that disrupts daily activities. The SRSP suggests that this protocol could be administered to adolescents younger than 18 and to young children via a proxy. Measure of Frequency of Sickle Cell Pain Episodes Measure of disease specific stigma based on patient reported outcome measurements that assesses 4 MoSCS factors: Social exclusion, Internalized Stigma, Expected Discrimination and Disclosure concerns. Measure includes stigma scores; perceived disease severity, acute care service utilization, hospital admission levels. N=262 Bediako, Shawn M et al. “The Measure of Sickle Cell Stigma: Initial Findings from the Improving Patient Outcomes through Respect and Trust Study.” Journal of health psychology (2014): 1359105314539530. PMC. Web. 13 Mar. 2016. PMCID: PMC4627860 MoSCS J Health Psychol. 2016 May; 21(5): 808–820. yes African-Americans Patient Reported Outcome Adults with Sickle Cell Disease Adults 18 years and older Measure of Sickle Cell Stigma MoSCS Measure of Sickle Cell Stigma (MoSCS) The weight of the participant in kilograms. PX21500 no PhenX protocol: Weight - Measured Weight #021501 Measured Weight A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument. Perhaps change name to "Diagnostic Measurement" and change description accordingly? EFO:0001444 no Measurement The MOS Social Support Survey is a self-administered questionnaire that that includes 19 items across four functional support subscales: emotional/informational support (8 items), tangible/instrumental support (4 items), affectionate support (3 items), and positive social interaction (3 items). Each item is scored on a 5-point Likert style scale (1 = None of the Time; 5 = All of the Time) to indicate how often that type of support is available to them. A score for each social support subscale can be computed by averaging across the individual items or by adding scores individual items together. Higher scores indicate more support. Sherbourne CD, Stewart A. The MOS Social Support Survey. Social Science and Medicine, v. 32, 1991, pp. 705-714. Sherbourne, Cathy D. and Anita Stewart. The MOS Social Support Survey. Santa Monica, CA: RAND Corporation, 1993. www.phenxtoolkit.org Check and show which source was used for the description and whether the description was adapted from the source. Multiple countries and cultural groups Self Clinic patients Adults 18 years and older no MOS Social Support Survey Medical Outcomes Study Social Support Survey Medical Outcomes Study (MOS) Social Support Survey Recording of pertinent information concerning patient's illness or illnesses. MESH:D008499 no Medical Records Voluntary cooperation of the patient in taking drugs or medicine as prescribed. This includes timing, dosage, and frequency. MESH:D055118 yes Medication Adherence A record of the type and dosage of all prescription and over-the-counter medications as well as dietary supplements currently being taken by the individual. Would it also be appropriate to add this to "Diagnostic Instrument" below "Diagnostics"? PX140300 yes PhenX protocol: Medication Inventory #140301 Medication Inventory A state of consciousness in which the individual eliminates environmental stimuli from awareness so that the mind can focus on a single thing, producing a state of relaxation and relief from stress. A wide variety of techniques are used to clear the mind of stressful outside interferences. It includes meditation therapy. (Mosby's Medical, Nursing, and Allied Health Dictionary, 4th ed) MESH:D019122 no Meditation, Transcendental Transcendental Meditation Meditation A phospholipid-interacting antimalarial drug (antimalarials). It is very effective against plasmodium falciparum with very few side effects. DB00358 no Mefloquine A form of nephrotic syndrome characterized by histology with thickening of the basement membrane and deposition of immune complexes in the subepithelial space. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0012578 yes Typically seen in adult population; rare in children. Idiopathic - may be related to M-type phosplipase A2 receptor antibodies; secondary forms may be related to autoimmune disease, underlying maligancies, drugs or infections. Has been reported in patients with sickle cell disease. Nephrotic syndrome with histologic features specific to membranous nephropathy. Membranous glomerulonephritis Membranous Nephropathy Meningitis is an infection of the meninges, the membranes that surround the brain and spinal cord. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. yes Causes include viruses, bacteria, fungus, and parasites. Symptoms of meningitis, which may appear suddenly, often include high fever, severe and persistent headache, stiff neck, nausea, sensitivity to bright light, and vomiting. Changes in behavior such as confusion, sleepiness, and difficulty waking up may also occur. In infants, symptoms of meningitis or encephalitis may include fever, vomiting, lethargy, body stiffness, unexplained irritability, and a full or bulging fontanel (the soft spot on the top of the head). Diagnosis made by lumbar puncture. Additional brain imaging such as CT scan/MRI may be required to exclude other causes. Meningitis Prolonged and/or excessive menses at regular intervals. Provide source for additional info. HP:0000132 yes Endometrial polyps, ademomyosis, leiomyoma, malignancy, hyperplasia, coagulopathy, ovulatory disfunction, endometrial, infection, inflammation, iatrogenic, other. Abnormally Heavy Bleeding During Menstruation Hypermenorrhea Treatment depends on the underlying condition. Menorrhagia Mental health includes our emotional, psychological, and social well-being. It affects how we think, feel and act as we cope with life. It also helps determine how we handle stress, relate to others, and make choices. Mental health is important at every stage of life, from childhood and adolescence through adulthood. no Emotional Health Mental Hygiene Mental Disturbance Psychological Resilience Related concept: Psychological resilience: The human ability to adapt in the face of tragedy, trauma, adversity, hardship, and ongoing significant life stressors. Mental Health Works consisting of studies using a quantitative method of combining the results of independent studies (usually drawn from the published literature) and synthesizing summaries and conclusions which may be used to evaluate therapeutic effectiveness, plan new studies, etc. It is often an overview of clinical trials. It is usually called a meta-analysis by the author or sponsoring body and should be differentiated from reviews of literature. MESH:D017418 no Meta-Analysis The state of the chemical reactions that occur within the cells, tissues, or an organism. These processes include both the biosynthesis (anabolism) and the breakdown (catabolism) of organic materials utilized by the living organism. MESH:D008660 yes Metabolics Metabolome Metabolic State 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. Were these specific synonyms selected from the description source because of specific relevance to SCD? DB00333 no 6-(dimethylamino)-4,4-diphenylheptan-3-one (+-)-methadone 6-Dimethylamino-4,4-diphenyl-3-heptanone methadonum Methadone The presence of methemoglobin in the blood, resulting in cyanosis. A small amount of methemoglobin is present in the blood normally, but injury or toxic agents convert a larger proportion of hemoglobin into methemoglobin, which does not function reversibly as an oxygen carrier. Methemoglobinemia may be due to a defect in the enzyme NADH methemoglobin reductase (an autosomal recessive trait) or to an abnormality in hemoglobin M (an autosomal dominant trait). (Dorland, 27th ed) MESH:D008708 no Methemoglobinemia Any procedure or test to diagnose a disease or disorder. Perhaps move other sibling classes below this class? (Imaging Test/Diagnostic Imaging, Include sub-class "Biopsy" and include specific types below that? NCIT:C18020 no Diagnostic Procedure Diagnostic Method An organism population whose members are particpating in non-parasitic symbiosis with a particular host. IDO:0000515 no Normal Resident Microflora Population Microbiome Single-stranded RNA molecules thought to regulate the expression of other genes. miRNAs are encoded by genes that are transcribed from DNA but not translated into protein (non-coding RNA). miRNA SBO:0000316 no miRNA MicroRNA A microscope is an instrument which magnifies the view on objects (too small to be viewed by the naked eye) under increased resolution. A microscope can be an optical instrument but also and electronic instrument. There are various kind of optical microscopes, e.g confocal microscope, epifluoresence microscope). OBI:0400169 Microscope A circumferential measurement of the largest part of the upper arm. MUAC MUARMCIR C124475 no PhenX protocol: Mid-Upper Arm Circumference #021101 MUAC MUARMCIR Mid Upper Arm Circumference Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0002076 no 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 headache Migraine A questionnaire to assess migraines and headaches. PX130500 Only label adapted This measure is used to screen a general population for the presence of headaches and migraines and to assess some of the associated symptoms. Migraine Questionnaire Accidental or natural termination of a clear pregnancy at a stage where the fetus is incapable of surviving independently of the mother. Provide source for additional info. MP:0013172 no Smoking, obesity, diabetes, drug and alcohol use, infections, trauma, stress, uterine or hormonal abnormalities, multiple pregnancy, chronic maternal diseases, chromosomal abnormalities . Vaginal bleeding with or without pain, sadness, anxiety may occur. Miscarriage Mobile Radiographic Unit Difficulty moving from place to place or from one position to another without assistance. MESH:D051346 yes Ambulation Difficulty Ambulatory Difficulty Difficulty Ambulation Difficulty Walking Mobility Limitations Mobility Limitation A small or moderate increase of albumin excretion in the urine. HP:0012594 no Low Level Albuminuria Microalbuminuria Mildly Increased Albuminuria A confirmed albumin:creatinine ratio (ACR) of 3 mg/mmol or more should be regarded as clinically significant. In adults, an increase of albumin in the urine of 30-150 mg per day constitutes the presence of mildly 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. Moderately Increased Albuminuria Genes with alleles that affect the phenotype associated with a nonallelic gene. MESH:D060045 no Gene, Modifier Modifier Genes Modifier Gene no Modifying the Home Environment and Making it Safer For the Patient Is this term needed? If we only have "Hemoglobin Profiling" below it then maybe we remove it and instead just have "Hemoglobin Profiling"? Molecular Profiling Molecular Profiling Assay Mononeuropathy is damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve. Perhaps replace with description in existing ontology? (HP?) Provide source for additional info. no Mononeuropathy is a type of damage to a nerve outside the brain and spinal cord (peripheral neuropathy). Single Damaged Nerve Mononeuropathy 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. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0012282 no Infections, hypersensitivity drug reaction. Looks like measles, macular lesions that are red and usually 2-10 mm in diameter but may be confluent in places. Morbilliform Rash The principal alkaloid in opium and the prototype opiate analgesic and narcotic. Morphine has widespread effects in the central nervous system and on smooth muscle. Were these specific synonyms selected from the description source because of specific relevance to SCD? DB00295 no 17-methyl-7,8-didehydro-4,5alpha-epoxymorphinan-17-ium-3,6alpha-diol (5alpha,6alpha)-17-methyl-7,8-didehydro-4,5-epoxymorphinan-3,6-diol (5alpha,6alpha)-didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol Morfina Morphia morphium Morphine Is a condition that affects the brain and leads to problems using language correctly. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. no 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. Broca's Aphasia Expressive Aphasia Loss of Expressive Speech Diagnosis: A speech and language therapist (SLT) usually diagnoses the condition by testing your language capabilities. Motor Aphasia A work that reports on a study executed by several cooperating institutions. MESH:D016448 no Multicenter Study Works about controlled studies which are planned and carried out by several cooperating institutions to assess certain variables and outcomes in specific patient populations, for example, a multicenter study of congenital anomalies in children. Multicenter Studies as Topic The multidimensional health locus of control (MHLC) scale is a widely used measure of the factors that people believe exert some measures of control over their health. The MHLC originally developed by Wallston and colleagues contained 3 subscales describing various types of control-related cognitions an individual may have about the current state of his or her health. These were: Internal Health Locus of Control (IHLC), Powerful Others Health Locus of Control (PHLC) and Chance Health Locus of Control (CHLC). Subsequently, a fourth subscale, the God Locus of Health Control (G LHC) scale was developed to assess the extent of an individual's belief that God controls his or her health status was added to the measure. Thus, the expanded MHLC Consists of 4 sub-scales: one Internal and 3 external subscales namely, powerful others, chance and God. Each of the 4 sub-scales has 6 items making a total of 24 items. The two original versions of the MHLC (forms A & B) deal with the general health status whereas the third version (Form C) assesses control-related cognitions about a specific disease state. Wallston K., Wallston B. and De Vellis R. (1978). Development of the multidimensional health locus of control (MHLC) scales. Health Education Monographs, 6, 160-169. Wallston KA, Malcarne VL, Flores L, Hansdottir I, Smith CA, Stein MJ, Weisman MH, Clements PJ. Does God Determine Your Health? The God Locus of Health Control Scale. Cognitive Therapy and Research . April 1999, Volume 23 (2):131-142. MHLC Check and show which source was used for the description and whether the description was adapted from the source. Multiple countries and cultural groups Self Healthy population and patients with specific medical conditions Spanish; Chinese; Persian Has adequate construct validity and acceptable metric properties 15 years and above no MHLC MHLC Scales Multidimensional Health Locus of Control Scales Multidimensional Health Locus of Control Scales (MHLC) The presence of skeletal muscular atrophy, reduction in the muscle bulk. Provide source for additional info. HP:0003202 Label and description adapted Cancer, AIDS, congestive heart failure, chronic obstructive pulmonary disease, renal failure, burns, cachexia, starvation, prolonged immobilization, neurogenic atrophy. Muscle weakness, reduction in muscle size. Amyotrophy Neurogenic Muscle Atrophy Skeletal Muscle Atrophy Muscle Atrophy Sudden and involuntary contractions of one or more muscles. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0003394 no Hyperflexion, hypoxia, exposure to large changes in temperature, dehydration, or low blood salt, hypokalemia, hypocalcemia, medications: raloxifen, statins. Muscle Cramps Muscle pain is a pain characterized by pain in one or more muscles. Provide source for additional info. Perhaps include below "Pain" under "Nervous System"? SYMP:0019161 no Over-stretching of one muscle or a group of muscles, trauma, infections ( influenza, Lyme, Ebola, Dengue fever, Chicungunya fever, Babesiosis, Malaria, Toxoplasmosis, Hemorrhage fever, polio, Rocky Mountain spotted fever, Trichinosis), vaccines, muscle hematoma, autoimmune disorders ( lupus, polymyalgia, polymyositis, nutricional deficiencies, chronic fatigue syndrome, acute rejection after heart transplant surgery, rhabdomyolysis, severe potassium deficiency, fibromialgia, muscle abscess , reaction to drugs ( statins, fibrates, ACE inhibitors, cocaine), repetitive strain injury,withdrawal syndrome of certain drugs ( corticosteroids, opioids, barbiturates, benzodiazepines, caffeine, alcohol). Pain of a muscle or a group of muscles. Myalgia Muscle Pain Anatomical system that consists of the muscular and skeletal systems. UBERON:0002204 no Musculo-Skeletal System Musculoskeletal System Mutation Carrier Screening This gene encodes a protein with three HTH DNA-binding domains that functions as a transcription regulator. MYB Link to "Hereditary Persistence of fetal hemoglobin". yes MYB-HSP1 Official Full Name: MYB proto-oncogene, transcription factor; Gene ID: 4602; Chromosome: 6; Position: 135180981..135219173 MYB proto-oncogene, transcription factor MYB Presence of myoglobin in the urine. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0002913 no Occurs in setting of rhabdomyolysis (muscle breakdown). Presence of myoglobin in the urine, may have positive dipstick testing for blood with no red blood cells seen on microscopy. Increased Urine Myoglobin Level Myoglobinuria A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Provide source for additional info. HP:0003198 no Inherited: dystrophies ( degeneration/ progressive), myotonia/ neuromyotonia, congenital myophaties , mithochondrial, familial periodic, inflammatory, metabolic ( lipid or glycogen storage diseases). Acquired: drugs ( corticosteroids, statins, alcohol), dermatomyositis, polymyositis, myositis ossificans, rhabdomyolysis. Muscle weakness, cramps, stiffness, tetany. Muscle Tissue Disease Myopathic Changes Myopathies Myopathy A general term for inflammation of the muscles without respect to the underlying cause. Provide source for additional info. HP:0100614 no Autoimmune diseases, infections, some drugs (statins). Inflammation of the muscle with or without weakness, pain or some degree of atrophy, high blood levels of creatine kinase. Muscle Inflammation Myositis A quantification of N-terminal prohormone of brain natriuretic peptide (NT-proBNP) which is associated with acute congestive heart failure. Hall, C. (2004), Essential biochemistry and physiology of (NT-pro)BNP. European Journal of Heart Failure, 6: 257–260. doi:10.1016/j.ejheart.2003.12.015 NT-proBNP EFO:0004745 Label and description adapted Levels of NT-proBNP can be used as a screening tool to evaluate an individual’s left and right ventricular function. Elevated NT-proBNP levels can be used diagnostically in decompensated congestive heart failure and they can be followed longitudinally to understand response to therapy. In patients with pulmonary hypertension and acute pulmonary embolism, elevated levels reflect an increased risk of morbidity and mortality. Additionally, in patients with sickle cell disease, levels of NT-proBNP levels > 160 pg/ml predict increased mortality risk. (PhenX) This adverse prognostic marker might be considered as a potential eligibility criterion for investigational or high-risk interventions, such as haematopoietic stem cell transplantation or gene therapy. (Hall, 2004) N-Terminal Prohormone of Brain Natriuretic Peptide NT-proBNP NT-proBNP Measurement N-terminal pro-brain natriuretic peptide (NT-proBNP) is the N-terminal inactive protein fragment (76 amino acids) that is cleaved from the brain natriuretic peptide (BNP) prohormone, proBNP, to release the biologically active BNP. NT-proBNP is released from the right or left ventricle of the heart when it is under increased strain related to volume or pressure overload. N-Terminal Pro-Brain Natriuretic Peptide Level A bioassay to determine an individual’s level of N-terminal pro-brain natriuretic peptide (NT-proBNP). Equipment needed: Phlebotomy supplies, centrifuge for serum separation, and freezer for sample storage is required. Only label adapted PhenX protocol: N-terminal Pro-brain Natriuretic Peptide (NT-proBNP) #810501 NT-proBNP Test The PhenX protocol provides instructions for drawing, processing, and storing blood according to the National Health and Nutrition Examination Survey (NHANES) methods. Because there are many comparable assays for ascertaining levels of N-terminal-pro-brain natriuretic peptide (NT-proBNP), the protocol also provides basic guidelines to aid comparability among different studies. The National Health and Nutrition Examination Survey (NHANES) instructions for drawing, processing, and storing blood provide a standard methodology used successfully for many years to ensure comparable results across study sites. However, the Sickle Cell Disease Working Group 1 (Cardiovascular, Pulmonary, and Renal) notes that certain aspects (e.g., exclusion criteria) of the NHANES protocol are study specific and might not be applicable to all types of studies (e.g., sickle cell disease). Investigators who want to include participants that have hemophilia or have received cancer chemotherapy in the last 4 weeks will need to implement special venipuncture procedures. N-terminal Pro-brain Natriuretic Peptide Test 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. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0008404 Infections, trauma, nutrient deficiency, overexposure to harsh chemicals. Peeling, slit, brittle, discoloured nails. Onychodystrophy Poor nail formation Nail Dystrophy A specific opiate antagonist that has no agonist activity. It is a competitive antagonist at mu, delta, and kappa opioid receptors. Are the synonyms included relevant to SCD? Should other synonyms from the description source be included? DB01183 no 3,14-dihydroxy-17-(prop-2-en-1-yl)-4,5alpha-epoxymorphinan-6-one 1-N-Allyl-14-hydroxynordihydromorphinone 17-allyl-3,14-dihydroxy-4,5alpha-epoxymorphinan-6-one Naloxonum Naloxone Narcolepsy is a rare, long-term brain disorder that causes a person to suddenly fall asleep at inappropriate times. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. no Narcolepsy is a fairly rare condition. It is difficult to know exactly how many people have narcolepsy because many cases are thought to go unreported. However, it is estimated that the condition affects at least 25,000 people in the UK. Men and women are thought to be affected equally by narcolepsy, although some studies have suggested the condition may be more common in men. The symptoms often begin during adolescence, although the condition is usually diagnosed between the ages of 20 and 40. Many cases of narcolepsy are caused by a lack of the brain chemical orexin (also known as hypocretin), which regulates sleep.This deficiency is thought to result from the immune system mistakenly attacking parts of the brain that produce this chemical.However, this does not explain all cases of narcolepsy, and the exact cause of this problem is often unclear. Factors that have been suggested to trigger narcolepsy include hormonal changes (which can occur during puberty or themenopause), major psychological stress, a sudden change in sleep patterns and an infection (such as flu). Symptoms can range from getting a few words mixed up to having difficulty with all forms of communication, such as reading, writing, naming objects and understanding speech.Some people are unaware their speech makes no sense and get frustrated when others don't understand. Narcolepsy Drugs designed to treat inflammation of the nasal passages, generally the result of an infection (more often than not the common cold) or an allergy related condition, e.g., hay fever. The inflammation involves swelling of the mucous membrane that lines the nasal passages and results in inordinate mucus production. The primary class of nasal decongestants are vasoconstrictor agents. (From PharmAssist, The Family Guide to Health and Medicine, 1993) MESH:D014663 no Decongestant Decongestants Nasal Vasoconstrictor Agents Vasoconstrictor Agents Nasal Decongestants 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. NCIT:C28407 no National Origin Nonspecfic term referring to inflammation affecting the kidney. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0000123 yes no 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. Kidney Inflammation Nephritis A subspecialty of internal medicine concerned with the anatomy, physiology, and pathology of the kidney. MeSH:D009398 no Kidney Diseases Nephrology A nonspecific term referring to disease or damage of the kidneys. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0000112 no Nonspecific but may arise due to variety of conditions including but not limited to sickle cell disease, hypertension, diabetes mellitus, glomerular disease, hereditary diseases, cystic kidney disease. Sickle cell nephropathy a complication of sickle cell disease associated with tubular and medullary dysfunction. Renal histology is often characterised by glomerular hypertrophy, perihilar focal segmental glomerulosclerosis, and global sclerosis. Kidney Damage Nephropathy Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria greater than 3.5g pre 24 hours. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria >3.5 g per 24 hours (in children, >40 mg/m2/hr or PCR >2000 mg/g [>200 mg/mmol] or >300 mg/dl or 3+ on urine dipstick) plus hypoalbuminemia (<3gm/dl) and edema. KDIGO Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0000100 yes Nephrotic syndrome related to sickle cell disease typically occurs in adulthood and preceded by lesser degree of proteinuria, other forms may occur at any age with different histologic lesions occurring at different ages. no Variety of causes - in sickle cell disease, most common lesion is focal segmental glomerulosclerosis (FSGS). Other causes may be other forms of primary glomerular disease including membranous nephropathy, minimmal change disease, membranoproliferative glomerulonephritis. Secondary forms may result from diabetes, amyloidosis. Heavy proteinuria, edema, hyperlipidemia. May also be assocaited with hypertension and increased risk of venous thrombosis. Nephrosis Is diagnosed by assessment of proteinuria (see Proteinuria) by 24hr urine collection or by urine protein-creatinine ratio on spot urine sample [KDIGO 2012]. Nephrotic Syndrome Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children, or urine protein to creatinine ratio >2000 mg/g [>200 mg/mmol] in children. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0012593 yes in sickle cell disease, seen primarily in adult population but may develop in childhood if secondary cause occurs. Glomerular diseases that lead to protein loss in the urine (See nephrotic syndrome). Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children, or urine protein to creatinine ratio >2000 mg/g [>200 mg/mmol] in children. Is diagnosed by assessment of proteinuria (see Proteinuria) by 24hr urine collection or by urine protein-creatinine ratio on spot urine sample [KDIGO 2012]. Nephrotic-Range Proteinuria The nervous system is an organ system containing predominantly neuron and glial cells. In bilaterally symmetrical organism, it is arranged in a network of tree-like structures connected to a central body. The main functions of the nervous system are to regulate and control body functions, and to receive sensory input, process this information, and generate behavior. UBERON:0001016 no Neurological System Nerve Net Systema Nervosum Nervous System An invisible complication of sickle cell anemia (SS) that defies detection by imaging and other routine diagnostic methods. Impaired neurocognitive function in seemingly neurologically intact patients is not related to vasoocclusion or hemolysis. It is detected by neuropsychiatric and neurobehavioral testing and is associated with anemia and age. no Neurocognitive Impairment 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. HP:0012759 no Neurodevelopmental Abnormality Physician-supervised programs designed to rehabilitate people with diseases, trauma, or disorders of the nervous system. MESH:D000066530 no Neurologic Rehabilitation Neurorehabilitation Rehabilitation, Neurologic Rehabilitation, Neurological Neurological Rehabilitation Umbrella term for the progressive loss of structure or function of neurons, including death of neurons. Provide source for additional info. yes 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 Nerve Degeneration Nerve Degenerations Neuron Degenerations Neuron Degeneration Link to "Hb isoelectric focusing" and "HPLC fractionation" via "Test, Method or Assay" object property. Remove from " Genetic Screening". As an infant with sickle cell trait/disease grows and develops, the amount of Hb S will increase as the amount of hemoglobin F decreases. At about age 2, the levels stabilize. Newborn Screening for Sickle Cell A physical assessment of the various symptoms associated with a stroke, consisting of 11 categories. NIHSS PX820801 yes PhenX protocol: NIH Stroke Scale (NIHSS) #820801 18 years and older Examiners must be trained to administer, score, and interpret the NIH Stroke Scale (NIHSS). The National Institute of Neurological Disorders and Stroke (NINDS) provides a comprehensive interactive training DVD for the NIHSS. Information and purchasing details for this training are available on the NINDS website. NIH Stroke Scale NIHSS For each category of the NIHSS, the test administrator asks the respondent to perform an activity or respond to stimuli. Respondents receive a score for each category based upon their ability to complete the activity or respond to the action. Each score typically ranges from 0 to 3. Each category of the NIHSS is designed to determine the respondent’s level of consciousness (LOC), visual, motor, or language ability. NIH Stroke Scale (NIHSS) Patients who do not turn up for scheduled healthcare appointments. Do not confuse with PATIENT DROPOUTS. MESH:D000067455 no No Show Patient Patient No Show Patient No-Show No-Show Patient Frequent urination at night that interrupts sleep. It is often associated with outflow obstruction, diabetes mellitus, or bladder inflammation (cystitis). MeSH:D053158 no Hormone imbalances and vesical problems. Nycturia Nocturia A subclass of analgesic agents that typically do not bind to opioid receptors and are not addictive. Many non-narcotic analgesics are offered as nonprescription drugs. MESH:D018712 no Non-Narcotic Nonnarcotic Nonnarcotic Analgesic Nonnarcotic Opioid Nonopioid Non Opioid SCDO A gene that is not a member of the alpha- or beta-globin family (see Alpha-globin or beta-globin). Non-Globin Loci Sickle retinopathy caused by direct damage or remodeling of the small blood vessels supplying the retina secondary to vaso-occlusion and local ischemia. NPSR yes Non-Proliferative Sickle Retinopathy Includes acute respiratory episodes with lower respiratory tract signs that do not meet the criteria for other diagnoses. May include episodes which would have been diagnosed as ACS were radiographic facilities available. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. Several possible etiologies including infections by various classes of microorganisms, pulmonary fat emobolism, infarction and pulmonary embolism. Acute onset of respiratory symptoms and signs including cough, coryza +/- fever. Non-specific Acute Lower Respiratory Tract Episode 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. Provide source for additional info. HP:0001513 no Genetic predisposition, nutritional error, sedentary lifestyle. Overweight, high body mass index. Obesity A work that reports on the results of a clinical study in which participants may receive diagnostic, therapeutic, or other types of interventions, but the investigator does not assign participants to specific interventions (as in an interventional study). MESH:D064888 no Observational Study Works about clinical studies in which participants may receive diagnostic, therapeutic, or other types of interventions, but the investigator does not assign participants to specific interventions (as in an interventional study). Observational Studies as Topic 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. Provide source for additional info. HP:0002870 no 2-8 years The severity is staged using the apnoea-hypopnoea index (AHI)Staged as 1. Mild 2. Moderate 3. Severe Overweight or obese, large neck, medicines, unusual structure in the neck such as narrow airway, large tonsils, adenoids or tongue or a small lower jaw, drinking and smoking. Apnoea and hypopnoea Obstructive Sleep Apnoea Obstructive Sleep Apnea An individual attribute that is the usual or principal work or business of an individual. ExO:0000034 no Career Employment Job Vocation Entrepreneurship Occupation Skilled treatment that helps individuals achieve independence in all facets of their lives. It assists in the development of skills needed for independent living. MESH:D009788 no Physical Therapy Physiotherapy Occupational Therapies Therapies, Occupational Therapy, Occupational Occupational Therapy An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. HP:0000969 no Fluid Retention Oedema Edema Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0000798 no Hypopituitarism, hyperprolactinemia, testosterone, chemotherapy, abnormalities of the testes, physical obstruction of the posttesticular genital tracts. Low Sperm Count Oligospermia Low output of urine, defined as an output below 5mL/kg/hr over 6 hours. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0100520 yes May be caused by any form of acute kidney injury, including volume depletion, ischemic injury, obstruction and intrinsic renal disease. Low output of urine, defined as an output below 5mL/kg/hr over 6 hours. Reduced Urine Output Oliguria The presence of developmental dysplasia of the nail. Medscape: Congenital Onychodysplasia: Author: Gregory J Raugi, MD, PhD; Chief Editor: William D James, MD et al. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0002164 no A genetic mechanism most likely underlies the pathophysiology of congenital onychodystrophy of the index finger. Two other proposed theories are (1) in utero ischemic injury and (2) in utero exposure to teratogens. Anonychia, micronychia, polynychia, hemionychogryphosis, malaligned and deformed nails. Dysplastic nails Onychodysplasia Onychomycosis is a fungal infection of the toenails or fingernails that may involve any component of the nail unit, including the matrix, bed, or plate. Medscape: Onychomycosis: Author: Antonella Tosti, MD; Chief Editor: Dirk M Elston, MD et al.. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0012203 yes Distal lateral subungual onychomycosis (DLSO), White superficial onychomycosis (WSO), Proximal subungual onychomycosis (PSO), Endonyx onychomycosis (EO), Candidal onychomycosis. Fungal infection. Disfigured nails, pain, paraesthesia, loss of dexterity, difficulty walking, standing, exercise. Onychomycosis Any eye disorder occurring as a consequence of injury to the eye. Ballas et al 2010 Am J Hematol no Insiduous nature in some cases, acute onset in others. Unusual in 1st decade of life. Ophthalmologic Manifestations These are relatively common and may occur in all segments of the eye and may not be detected at their early stages unless an eye examination is performed annually. Ophthalmologic Complication Surgery performed on the eye or any of its parts. MESH:D013508 no Ophthalmologic Surgical Procedure Device for examining the interior of the eye, permitting the clear visualization of the structures of the eye at any depth. MESH:D019721 yes Funduscope Ophthalmoscopes Ophthalmoscope Examination of the interior of the eye with an ophthalmoscope. Include "Direct Ophthalmoscopy" and "Indirect Ophthalmoscopy" as sub-classes? (Direct could be used to diagnose "Conjunctival Comma Sign") MESH:D009887 no Ophthalmoscopy Any agent that acts on an opioid receptor or affects the life cycle of an opioid transmitter. Synthetic or semisynthetic agent producing profound analgesia, drowsiness, and changes in mood. Differences between Opioid Agent and Opioid Analgesic need to be checked. Then sub-classes of this term need to be checked for further classification. CHEBI:35482 CHEBI:60598 yes Opioid Optical Instrument Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. Provide source for additional info. HP:0002749 no Abnormal vitamin D metabolism: 1) Deficient intake or absorption;2) Defective 25-hydroxylation due to biliary cirrhosis- alcoholic cirrhosis- anticonvulsants; 3) Loss of vitamin D binding protein- nephrotic syndrome; 4) Defective 1-alpha 25-hydroxylation: Hypoparathyroidism, Renal failure, Vitamin D-dependent rickets type 1; 5) Defective target organ response to calcitriol: Vitamin D-dependent rickets, type II (Hereditary vitamin D resistant rickets, HVDRR). Mineralization defects: 1) Abnormal matrix: Chronic renal failure, Osteogenesis imperfecta, Fibrogenesis imperfecta, Axial osteomalacia; 2) Enzyme deficiency: Hypophosphatasia; 3) Mineralization inhibitors: bisphosphonates, Aluminum, fluoride. Phosphate deficiency: 1) Decreased intake ( antiacids); 2) Impaired renal reabsorption, that can be Primary defects = X-linked hypophosphatemic rickets (vitamin D resistant rickets, VDRR), Hereditary hypophosphatemic rickets with hypercalciuria, Sporadic acquired hypophosphatemic rickets, Fanconi syndrome, Wilson disease, cystinosis, multiple myeloma; or can be Secondary defects = 2) Secondary hyperparathyroidism (renal tubular acidosis, type 1 and disorders of vitamin D metabolism), 2) Oncogenic osteomalacia. May be asymptomatic and present radiologically as osteopenia. Or it may present as diffuse bone and joint pain, muscle weakness, and difficulty walking, Fractures, Muscle spasms, cramps. Osteomalacia in children is known as rickets. Osteomalacia An infection of bone. Provide source for additional info. Move/copy below Infection? HP:0002754 no Bacteria, blunt trauma, fracture, bone surgery. Tenderness, redness, and warmth in the area of infection, fever, fatigue, bone pain, swelling around the affected bone, lost range of motion. Bone Infection Osteomyelitis A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. This term replaced "Avascular Necrosis" in QoL. yes Local pain. Typical images on X-ray. AVN Aseptic Bone Necrosis Avascular Bone Necrosis Avascular Necrosis Avascular Necrosis (AVN) Bone Infarction Bone Infarcts Bone Necrosis Ischemic Bone Necrosis Osteochondronecrosis It is most common in the upper leg. Other common sites are your upper arm and your knees, shoulders and ankles. 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. Osteonecrosis Necrotic changes in the bone tissue of the femoral head due to interruption of blood supply. ONFH 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" SNOMEDCT:203476003 Only label adapted 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 is common in patients with sickle cell disease, with an incidence ranging from about 2 to 4.5 cases per 100 patient-years. Patients with the hemoglobin SS genotype and alpha-thalassemia and those with frequent painful crises are at highest risk. The overall prevalence is about 10 percent. The results of hip arthroplasty are poor. Osteonecrosis of the Femoral Head Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value. Provide source for additional info. HP:0000938 no 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. 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, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean, based on age and sex. Provide source for additional info. HP:0000939 yes 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. Osteoporosis Inflammation or infection of the middle ear. Source needed for additional information. HP:0000388 no Usually bacterial but can be caused by fungus or virus infection. Pain or discharge from one or both ears Otitis Media A semisynthetic derivative of codeine that acts as a narcotic analgesic more potent and addicting than codeine. DB00497 yes 14-hydroxy-3-methoxy-17-methyl-4,5alpha-epoxymorphinan-6-one (-)-14-Hydroxydihydrocodeinone 4,5-Epoxy-14-hydroxy-3-methoxy-17-methylmorphinan-6-one 4,5alpha-Epoxy-14-hydroxy-3-methoxy-17-methylmorphinan-6-one Dihydro-14-hydroxycodeinone Dihydrohydroxycodeinone Oxicodona Oxycodonum Oxycodone The determination of oxygen-hemoglobin saturation of blood either by withdrawing a sample and passing it through a classical photoelectric oximeter or by electrodes attached to some translucent part of the body like finger, earlobe, or skin fold. It includes non-invasive oxygen monitoring by pulse oximetry. NCIT:C60832 no SO2 Oxygen Saturation Measurement Arterial oxygen saturation, as determined by an arterial blood gas test. yes SaO2 sats A value below 60% causes hypoxemia (which can also be caused by anemia). Hypoxemia due to low SaO2 is indicated by cyanosis. Oxygen Saturation of Arterial Blood An unpleasant sensory and emotional experience triggered in the nervous system, associated with actual or potential tissue damage, or described in terms of such damage. Include "Bone Pain" (from below "Musculoskeletal System") as sub-class? Provide source for additional info. HP:0012531 yes Somatic pain is caused by injury to skin, muscles, bone, joint, and connective tissues. Deep somatic pain is usually described as dull or aching, and localized in one area. Visceral pain refers to pain that originates from ongoing injury to the internal organs or the tissues that support them. Somatic pain from injury to the skin or the tissues just below it often is sharper and may have a burning or pricking quality. Nociceptive pain is believed to be caused by the ongoing activation of pain receptors in either the surface or deep tissues of the body. There are two types: "somatic" pain and "visceral" pain. Neuropathic pain is believed to be caused by changes in the nervous system that sustain pain even after an injury heals. "Psychogenic" pain is a simple label for all kinds of pain that can be best explained by psychological problems. Pain SCDO The impact of sickle cell pain on the daily activities of patients. The degree to which pain interferes with their quality of life. This pain is related to the unique features of Sickle Cell Disease. Pain Burden Pain Disability Pain Impact Pain Interference Pain Status Abnormally pale skin. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0000980 no Mild, moderate, severe. Anaemia, extreme cold Whitening of the skin, loss of red colour in the skin or mucous membrane. Paleness Pallor Needs description. Approximation of liver size. Feeling for tenderness and masses. Palpation of Liver 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. HP:0003470 yes 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. Inability to Move Paralysis Invertebrate organisms that live on or in another organism (the host), and benefit at the expense of the other. MESH:D010271 Both label and description adapted Parasites Parasite Voluntary cooperation of the patient in following a prescribed regimen. MESH:D010349 no Patient Adherence Patient Cooperation Patient Compliance The PHQ-9 is a multipurpose instrument for screening, diagnosing, monitoring and measuring the severity of depression. It incorporates DSM-IV depression diagnostic criteria with other leading major depressive symptoms into a brief self-report tool, and rates the frequency of the symptoms, which factors into the scoring severity index. The PHQ-9 is completed by the patient in minutes and is rapidly scored by the clinician. PHQ-9 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. yes Multiple countries and cultural groups Self Clinic patients Swahili; multiple languages for India; Portuguese; French; Spanish Widely used around the world, also used in SCD. Adults 18 years and older no PHQ-9 Patient Health Questionnaire-9 Patient Health Questionnaire-9 (PHQ-9) Consists of 4 sub-scales: one Internal and 3 external subscales namely, powerful others, chance and God. Each of the 4 sub-scales has 6 items making a total of 24 items. The two original versions of the MHLC (forms A & B) deal with the general health status whereas the third version (Form C) assesses control-related cognitions about a specific disease state. 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. PROMIS Check and show which source was used for the description and whether the description was adapted from the source. The development of PROMIS using modern measurement theory facilitates cross cultural adaptation. Translations use universal approach so do not have to be country specific. Self; Proxy (Parent report) Clinic patients French; Spanish; Portuguese Rigor in development, using modern measurement theory; used in multiple SCD studies Children 5 - 17 years; Adults 18 years and older no PROMIS Patient Reported Outcomes Measurement Information System Patient Reported Outcomes Measurement Information System (PROMIS) A communication from a patient about something they perceive as being abnormal about their body or life. OGMS:0000088 no Patient Symptom Report The Pediatric Migraine Disability Assessment (PedMIDAS) headache disability questionnaire is completed by the patient and his/her parent and is reviewed with the clinician or study staff. It captures the impact of headaches on school performance (three questions), activities at home (one question on homework or chores), and social and/or sports functions (two questions). The PedMIDAS is scored by summing the answers across the six questions. If a range is provided as an answer, either use the high end of the range or prompt for a single answer. The frequency and severity are not scored but can be used for clinical reference. PedMIDAS PX130502 no PhenX protocol: Pediatric Migraine Disability Assessment #130502 PedMIDAS Pediatric Migraine Disability Assessment A physical assessment of the various symptoms associated with a stroke, consisting of eleven categories. The PedNIHSS was developed by a panel of pediatric and adult stroke experts and is a modification of the adult NIH stroke scale (NIHSS). Modifications were made to allow individuals age 18 or younger to be assessed and are identified in the PedNIHSS by bold italic text. PedNIHSS PX820802 PhenX protocol: Pediatric NIH Stroke Scale (PedNIHSS) #820802 2-18 years old Examiners must be trained to administer, score, and interpret the NIHSS. The National Institute of Neurological Disorders and Stroke (NINDS) provides a comprehensive interactive training DVD for the National Institutes of Health Stroke Scale (NIHSS). Information and purchasing details for this training is available on the NINDS website. PedNIHSS Pediatric NIH Stroke Scale For each category of the PedNIHSS, the examiner asks the respondent to perform an activity or respond to an action by the provider. Respondents receive a score for each category based upon their ability to complete the activity or respond to the action. Each score typically ranges from 0 to 3. Each category of the PedNIHSS is designed to determine the respondent’s level of consciousness (LOC), visual, motor, or language ability. Life stage: Toddler, Child, Adolescent Pediatric NIH Stroke Scale (PedNIHSS) The MHLC scales consist of three forms of A, B and C. A and B are parallel forms and either one can be used, while Form C is applied for either the sick or to measure HLC under special conditions. Varni, J. W., Seid, M., and Kurtin, P. S. (2001). PedsQL 4.0: Reliability and validity of the 86 pediatric quality of life inventory version 4.0 generic core scales in healthy and patient populations. Medical Care, 39, 800-812. PedsQL Check and show which source was used for the description and whether the description was adapted from the source. Self; Proxy (Parent report) Clinic patients Many measures available in Spanish, French and Portuguese Toddlers; Children; Adolescents yes Pediatric Quality of Life Inventory PedsQL Pediatric Quality of Life Inventory (PedsQL) An assessment of the respondent's educational performance and learning accommodations. Include under QoL? PX840200 yes PhenX protocol: Pediatric School Performance #840201 Many rare genetic conditions (e.g., sickle cell disease) and other diseases are associated with developmental delays, damage to the central nervous system, and frequent absences from school due to illness, all of which can impact school performance. Pediatric School Performance The 18-item PedsQL Multidimensional Fatigue Scale encompasses three domains: 1) General Fatigue, 2) Sleep/Rest Fatigue and 3) Cognitive Fatigue. The format, instructions, Likert response scale, and scoring method are identical to the PedsQL 4.0 Generic Core Scales [16], with higher scores indicating better HRQOL (lower fatigue symptoms). The instructions ask how much of a problem each item has been during the past one month. Panepinto JA, Torres S, Bendo CB, McCavit TL, Dinu B, Sherman-Bien S, Bemrich-Stolz C, Varni JW (2014). PedsQL Multidimensional Fatigue Scale in sickle cell disease: feasibility, reliability, and validity. Pediatric Blood & Cancer, 61,171-177 Check and show which source was used for the description and whether the description was adapted from the source. Self; Proxy (Parent report) Clinic patients Validation study in SCD Children 2 - 18 (child report ages 5 - 18 years; parent proxy report of children ages 2 - 18 years) PedsQL Multidimensional Fatigue Scale The PedsQL Sickle Cell Disease Module includes 43 items from 9 subscales: Pain and Hurt (9 items); Pain Impact (10 items); Pain Management and Control (2 items); Worry (5 items); Worry II (2 items); Emotions (2 items); Treatment (7 items); Communication I (3 items); and Communication II (3 items). For all ages, each item asks how much of a problem there has been in the past month. There are self- or parent-reported forms for ages 8 to 18, and responses are scored on a 5-point Likert-style scale (0 = never a problem; 1 = almost never a problem; 2 = sometimes a problem; 3 = often a problem; 4 = almost always a problem). Forms for children ages 5 to 7 are interviewer-administered, and responses include a 3-point Likert-style scale (0 = not at all a problem; 2 = sometimes a problem; 4 = a lot of a problem). Items are reversed-scored and converted to a 100-point scale (0 = 100, 1 = 75, 2 = 50, 3 = 25, 4 = 0) with higher scores indicating better quality of life. Scores for individual subscales are the sum of items divided by the total number or items answered. The total score for the PedsQL Sickle Cell Disease Module is the sum of the items divided by the number of items answered. Panepinto JA, Torres S, Bendo CB, McCavit TL, Dinu B, Sherman-Bien S, Bemrich-Stolz C, Varni JW (2013).PedsQL sickle cell disease module: feasibility, reliability, and validity.Pediatric Blood & Cancer, 60,1338-1344. no Self; Proxy (Parent report) Children with SCD Clinic Patients (Children with SCD) Ages 2 to 18 The PedsQL™ Sickle Cell Disease Module is a proprietary instrument and administration requires permission and a license from the MAPI Research Trust. Life Stage: Toddler, Child, Adolescent Life stage: Toddler; Child; Adolescent PedsQL Sickle Cell Disease Module Any member of the group of substituted penams containing two methyl substituents at position 2, a carboxylate substituent at position 3 and a carboxamido group at position 6. CHEBI:17334 no Penicillins Penicillin SCDO Use of penicillin for the prevention of infections with penicillin-susceptible organisms, e.g. Streptococcus pneumoniae. This term is in SNOMEDCT. Penicillin Prophylaxis Needs description. To be requested for inclusion into SNOMED CT, below "Diagnostic procedure on liver". Measuring the liver size. Percussion of Liver Death anytime within the perinatal period. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. MP:0002081 yes Preterm birth, infant respiratory distress syndrome, birth defects, infections. perinatal death Perinatal Death Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. HP:0009830 yes 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. Neuropathy Peripheral Nerve Damage Peripheral Neuritis Peripheral Neuropathy An estimation of the oxygen saturation level usually measured with a pulse oximeter device. yes SpO2 Peripheral Oxygen Saturation 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. HP:0011904 Only label adapted Persistence of Hemoglobin F Raised Hemoglobin F Increased Hemoglobin F 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. NCIT:C19332 no Personal Attribute 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. NCIT:C18772 no Medical History Past Medical History Personal Medical History 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. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0000967 yes Local injury and trauma, allergic reactions, autoimmune diseases, viral infections, thrombocythemia (an abnormally low platelet level), certain medical treatments such as radiation, chemotherapy, anticoagulants, cortisone, aspirin, idiopathic thrombocytopenic purpura (ITP), leukemia and other bone marrow malignancies that may lower the number of platelets, and sepsis (bloodstream infection). Pinpoint-sized reddish/purple (bleeding )spots that appear just under the skin or a mucous membrane. Petechiae A (combination of) quality(ies) of an organism determined by the interaction of its genetic make-up and environment that differentiates specific instances of a species from other instances of the same species. Sub-classes to be added?: increased lactate dehydrogenase level (in Ontology of Adverse Events AOE) decreased lactate dehydrogenase level (Mammalian Phenotype Ontology) Splenomegaly (link this to Spleen Examination) Obstructive Hydrocephalus (see "Cerebellar Hemorrhage") Failure to Thrive (MeSH) Cardiac Output, Low (MeSH) Cardiac Output, High (MeSH) Properties to be used to link phenotypes to Disease Modifiers: - temporal pattern modified by - age of onset modified by - mortality modified by OGMS:0000023 no Phenotype A (combination of) quality(ies) of some or all sickle cell disease individuals, determined by the interaction of the genetic make-up of these individuals (with regard to sickle cell disease) and their environment. Hemoglobin. 2011;35(5-6):511-9. doi: 10.3109/03630269.2011.610477. Epub 2011 Sep 20. Make sure complications as described in "Definitions of the Phenotypic Manifestations of Sickle Cell Disease" (Ballas, 2010) are included in Phenotype. Label and description adapted It is essential that the phenotypic manifestations of sickle cell disease be defined accurately so that communication among providers and researchers facilitates the implementation of appropriate and cost-effective diagnostic and therapeutic modalities. Although sickle cell disease arises due to a single gene mutation, the sickle cell gene is pleiotropic in nature and thus has multiple phenotypic expressions that constitute the complications of sickle cell disease. Phenotype of Sickle Cell Disease The physical method (technology) used to measure / readout the effect caused by a perturbagen in the assay environment. Not sure if we want this term? bao:BAO_0000035 no Physical Detection Method The part of the human environment that consists of purely physical factors, including the natural environment (such as soil, climate, water supply) and the built environment. "Physical Environment." Merriam-Webster.com. Merriam-Webster, n.d. Web. 9 Nov. 2016. yes Physical Environment Systematic and thorough inspection of the patient for physical signs of disease or abnormality. MESH:D010808 no Physical Assessment A primary care provider (PCP) performs this examination. A PCP may be a doctor, a nurse practitioner, or a physician assistant. The exam is also known as a wellness check. Physical Examination One's ability to carry out activities that require physical actions, ranging from self-care (activities of daily living) to more complex activities that require a combination of skills, often within a social context. "Physical Function" is inclusive of the term "disability" and includes the full spectrum of physical functioning from severe impairment to exceptional physical abilities. PROMIS Domain Frameworks/Definitions nih.promis.org Determine and specify the description source. Include a term to do with level of independence? The name of this term was changed from "Physical Functioning" to "Physical Health" so that it is named similarly to the "Mental Health" class. no Mobility Physical Function Physical Functioning Physical Health Disability Patient Reported Outcomes measure the effect of the disease as well as the positive and negative consequences of treatment on health and functioning from the patient’s perspective. Physical Health An organismal assay designed to capture information pertaining to the the organic processes and phenomena of an organism or any of its parts or of a particular bodily process. ERO:0001292 no Physiological Assay Physiological Test A therapeutic intervention that remediates impairments and promotes mobility, function, and quality of life through examination, diagnosis, and physical intervention. OAE:0002476 no Physical Therapy Physiotherapy 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. HP:0011856 no Pica may be more prevalent in SCD compared with the general population but is an area in need of further study. Pica Small-scale tests of methods and procedures to be used on a larger scale if the pilot study demonstrates that these methods and procedures can work. Pilot Projects The number of platelets (thrombocytes) in a specified volume of blood, usually expressed as platelets per cubic millimeter of whole blood. CMO:0000029 no Blood Platelet Number Blood Platelet count Platelet Number Platelet Count 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. CMO:0000921 no Platelet Measurement A nonincisional procedure that has become a well-accepted alternative to scleral buckling and vitrectomy for the repair of selected cases of rhegmatogenous retinal detachment. PR yes Pneumatic retinopexy is a 2-step procedure. In the first step, an expanding gas bubble is injected into the vitreous cavity and the patient is positioned so that the bubble closes the retinal break, permitting resorption of subretinal fluid. The second step entails induction of a chorioretinal adhesion around all retinal breaks with cryopexy, laser, or both. Pneumatic Retinopexy An active immunizing vaccine used to prevent infection by the bacterium Streptococcus pneumoniae. It is indicated for disease caused by serotypes 1, 5, 4, 6B, 7, 9V, 14, 18C, 19F, and 23F. PCV 10 no PCV 10 Pneumococcal 10-Valent Conjugate Vaccine A pneumococcal conjugate vaccine containing 13 different strains of the bacterium Streptococcus pneumoniae, used in children and studied in immunocompromised patients for the prevention of pneumococcal disease. The pneumococcal 13-valent conjugate vaccine contains capsular antigen polysaccharides derived from the S. pneumoniae serotypes 1, 3, 4, 5, 6A, 6B, 7F, 9V, 14, 18C, 19A, 19F and 23F that are individually conjugated to a nontoxic diphtheria cross-reactive material (CRM) carrier protein (CRM197). Upon vaccination, pneumococcal 13-valent conjugate vaccine induces active immunization against 13 different serotypes of S. pneumoniae and protects against pneumococcal disease. PCV 13 no PCV 13 PCV13 Vaccine Prevnar 13 The pneumococcal conjugate vaccine, PCV13 is currently recommended for all children younger than 5 years old, all adults 65 years or older, and people 6 through 64 years old with certain medical conditions. Pneumococcal 13-Valent Conjugate Vaccine 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. PCV 7 no 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 An environmental system process that results in the introduction of contaminants into an environment. ENVO:02500036 no Environmental Pollution Pollution PCR is the process in which a DNA polymerase is used to amplify a piece of DNA by in vitro enzymatic replication. As PCR progresses, the DNA thus generated is itself used as a template for replication. This sets in motion a chain reaction in which the DNA template is exponentially amplified. PCR OBI:0000415 no PCR Polymerase Chain Reaction A generalized disorder of peripheral nerves. 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. Peripheral Nerve Disease Polyneuropathy 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. Only label adapted Pneumococcal vaccine PPSV Pneumococcal Polysaccharide Vaccine Pneumococcal Polyvalent Vaccine Pneumovax 23 Pneumococcal polysaccharide vaccine is recommended for all adults 65 years or older, people 2 through 64 years old who are at increased risk for disease due to certain medical conditions, and adults 19 through 64 years old who smoke cigarettes. Polyvalent Pneumococcal Vaccine Significant maternal haemorrhage/blood loss following deilvery of a child. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0011891 no Atonia, trauma, coagulopathy. Hemorrhage after delivery, with loss of more than 500 to 1000 mL of blood, causing hemodinamic instability. Bleeding post-delivery Postpartum Hemorrhage Works about randomized clinical trials that compare interventions in clinical settings and which look at a range of effectiveness outcomes and impacts. MESH:D065007 no Pragmatic Clinical Trial Pregnancy-induced hypertension in association with significant amounts of protein in the urine. HP:0100602 no Abnormal development of placental vessels, low flow blood of the placental vessels. Edema, hypertension, proteinuria, headache, visual abnormalities, abdominal pain, nausea, vomiting. Pre-eclampsia Preeclampsia Prenatal Screening for Sickle Cell The birth of a baby of less than 37 weeks of gestational age. Provide source for additional info. HP:0001622 Only label adapted. Preeclampsia, chronic condition of the mother, twin pregnancy, infection, some gynecologic diseases, smoking, drug use, stress, physical injury or trauma, maternal age less than 17 years or greater than 35 years, some defect in the fetus, placental abnormality. Birth ahead of schedule Premature Birth Premature Delivery Premature Delivery of Affected Infants Preterm Birth Preterm Delivery SCDO Activities to prevent Sickle Cell Disease or its complications. Preventive Therapeutics Prophylactic Therapeutics Preventative Therapeutics A prolonged painful erection that may last hours and is not associated with sexual activity. It is seen in patients with sickle cell anemia, advanced malignancy, spinal trauma, and certain drug treatments. Nelson, Winter. Priapism: evolution of management in 48 patients in a 22 year series. J Urology 1977;117:455-58 MESH:D011317 no Patients with known etiology should be treated specifically for the primary disease and usually more conservatively for priapism. Priapism can affect sexual relations and reproductive potential for men. Priapism Care which provides integrated, accessible health care services by clinicians who are accountable for addressing a large majority of personal health care needs, developing a sustained partnership with patients, and practicing in the context of family and community. This term is not below Quality of Health Care in MESH, but below "Health Services Administration" ---> "Patient Care Management" ---> "Comprehensive Health Care" MESH:D011320 no Primary Care Primary Health Care Primary Healthcare Proguanil is a prophylactic antimalarial drug, which works by stopping the malaria parasite, Plasmodium falciparum and Plasmodium vivax, from reproducing once it is in the red blood cells. It does this by inhibiting the enzyme, dihydrofolate reductase, which is involved in the reproduction of the parasite. DB01131 no 1-(P-Chlorophenyl)-5-isopropylbiguanide Chlorguanide Chloroguanide N-(4-Chlorophenyl)-n'-(isopropyl)-imidodicarbonimidic diamide Proguanil Sickle retinopathy that involves the upregulation of vascular growth factors due to chronic changes of local hypoxia and ischemia. Ballas et al 2010 Am J Hematol Bonanomi et al 2013 Arq Bras Oftalmol PSR yes Sickle Cell Disease Neovascularization and formation of sea fans. Retinopathy due to SCD Characterized by Neovascularization Sickle Cell Proliferative Retinopathy Diagnostic Criteria: Eye exam using direct and indirect ophthalmoscopy, slit lamp biomicroscopy, and fluorescein angiography. Ophthalmoscopic inspection is usually sufficient to detect the five clinical stages listed under the "Severity Index" below. Severity Index: Stage I: peripheral arteriolar occlusion(s). Stage II: vascular remodeling with arteriovenous anastomoses at the boundary between perfused and nonperfused peripheral retina. Stage III: peripheral retinal neovascularization that assumes a frond-like configuration resembling the marine invertebrate Gorgonia flabellum (sea fan). Most sea fan formations are found at the interface between perfused and non-perfused peripheral retina growing toward the ischemic pre-equatorial retina. Stage IV: defined by the presence of vitreous hemorrhage. As sea fans grow into the vitreous cavity, traction on their delicate vascular channels results in bleeding at irregular intervals for years. Stage V: retinal detachment. Involves neovascular fronds that emerge from the retinal vasculature at the interface of perfused and non-perfused retina in response to vascular growth factors produced by ischemic retina. The neovascular tissue is predisposed to hemorrhage and vitreoretinal traction forces. Although these preretinal neovascular formations, which may resemble and are called sea fans, are bright red when viable, they appear white when autoinfarcted or caused to involute by laser photocoagulation. The ocular complications of PSR are more characteristically seen in HbC (SC) and SThal disease, rather than in SS disease. Proliferative Sickle Retinopathy This protocol includes 29 self-administered quality of life-type questions from the PROMIS Profile 29 for adults. The quality of life questions include physical function, anxiety, depression, fatigue, sleep disturbance, ability to participate in social roles and activities, and pain intensity over the past 7 days. Each question, except for the pain intensity question, is measured on a 5-point scale. no PhenX protocol: Quality of Life - Adult #221302 Self Information collected from this questionnaire can be used to assess the individual’s current quality of life, which may influence emotional and physical problems. 18 years and older PROMIS 25 Profie v2.0 Life stage: Adult PROMIS Adult Profile 29 This protocol includes 25 quality of life-type questions relating to physical function mobility, anxiety, depressive symptoms, fatigue, peer relationships, pain interference, and pain intensity over the past 7 days. yes PhenX protocol: Quality of Life - Pediatric #221301 Self; Proxy (Parent report) Information collected from this questionnaire can be used to assess the individual’s current quality of life, which may influence emotional and physical problems. Children age 8-17 years old (parent proxy for children age 5-17 years old) PROMIS 25 PROMIS 25 Profie Life Stage: Child, Adolescent This measure consists of seven item banks. There is one bank for physical function mobility, anxiety, depressive symptoms, fatigue, peer relationships, pain interference, and pain intensity. For each question, the respondent is asked to reflect on the past 7 days. The pain intensity item bank contains one question with a 10-point answer scale. The other banks each contain four questions, and each question has a 5-point answer scale. PROMIS Pediatric Profile 25 A planned process that has the objective to reduce the risk of acquiring one or more disorders. OGMS:0000103 no Infection Prophylaxis Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group. Prospective Studies Increased amounts of any protein (including albumin) in the urine - typically more than 300mg in a 24hr period. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0000093 yes In sickle cell disease, overt proteinuria (distinguised from albuminuria) may be noted in childhood although less common (4.5% in ages 2-21 [Wigfall 2000] v. 26% in adults [Guasch 2006]). At most severe form - lead to nephrotic syndrome. Caused by a variety of kidney diseases, including sickle cell disease, diabetes, glomerular disease, arteriosclerosis. Elevated amounts of protein in the urine - typically greater than 300mg in 24 hrs. High Urine Protein Levels Screening Recommendations: Screen all individuals with SCD, beginning by age 10, for proteinuria. If the result is negative, repeat screening annually. If the result is positive, perform a first morning void urine albumin-creatinine ratio and if abnormal, consult with or refer to a renal specialist. Proteinuria 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. CMO:0000211 no PTT Prothrombin Time This is a 17-item scale, separated into 4 subscales with good psychometric properties. Negative Attitudes Scale comprises six items grouped together (Mean=36.5, SD=21.9, Potential range = 0 to 100). Higher scores on this scale indicate an endorsement of more negative views about SCD patients. Positive Attitudes Scale comprises four items grouped together (Mean=45.7, SD=24.3, Potential range = 0 to 100). Higher scores indicate an endorsement of more positive views about SCD patients. Concern Raising Behaviors Scale comprises four items grouped together (Mean = 53.7, SD = 22.0, Potential range = 0 to 100). Higher scores indicate greater endorsement of the belief that certain SCD patient behaviors raise clinician concern that the patient is inappropriately drug-seeking. Red-Flag Behaviors Scale comprises three items grouped together (Mean = 58.7, SD = 22.7, Potential range = 0 to 100). Higher scores on this scale indicate greater endorsement of the belief that certain SCD patient behaviors raise clinician concern about patient drug-seeking. Haywood, Jr., C., Lanzkron, S., Hughes, MD3, Brown, R., Massa, M., Ratanawongsa, N., and Beach, MC. (2010). A Video-Intervention to Improve Clinician Attitudes Toward Patients with Sickle Cell Disease: The Results of a Randomized Experiment. J Gen Intern Med 26(5):518–23. Check and show which source was used for the description and whether the description was adapted from the source. African Americans Self Heath care providers Demonstrated validity with SCD populations in the US Adults no Provider Attitudes Toward Patients with Sickle Cell Disease Pruritus, or itch, is defined as an unpleasant sensation that provokes the desire to scratch. Pruritus and Systemic Disease by Author: David F Butler, MD; Chief Editor: William D James, MD Medscape Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0000989 yes Localized or systemic. Renal, cholestatic, hematologic, endocrine and idiopathic. Itchiness. Itchy skin Pruritus A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0003765 no Genetic predispostion with enviromental triggers. Skin characterized by redness, irritation, with thick, red skin that displays flaky, silver-white patches (scales). Psoriasis Social, psychological, and environmental occurrences, which require an adjustment or effect a change in an individual's pattern of living. MESH:D008016 Label and description adapted Emotional Stress Life Stress Psychological Stress The absence of appropriate stimuli in the physical or social environment which are necessary for the emotional, social, and intellectual development of the individual. This term is placed below "Culture" in MESH. MESH:D011610 no Psychosocial Deprivations Psychosocial Deprivation Having to do with the physical, psychological, cognitive, and social consequences of disease, including stigmatization of persons affected. no Psychosocial Psychosocial Effects Psychosocial Effects/Treatment Treatment/Psychosocial Effects Psychosocial Effect A generic term for the treatment of mental illness or emotional disturbances primarily by verbal or nonverbal communication. Branch of psychotherapy associated with Victor Frankl. MESH:D011613 no Psychiatry Therapy Logotherapy Psycho-Therapy Psychotherapy Describes the type of material the article represents (e.g., Review, Clinical Trial, Retracted Publication, Letter); see the PubMed Publication Types, e.g., review[pt]. Publication Types are arranged hierarchically with more specific terms arranged beneath broader terms. no Publication Type A test that measures breathing and how well the lungs are functioning. There are three different measures of lung function: spirometry, lung volumes, and diffusion capacity. PFT yes Pulmonary function tests are done to: Diagnose certain types of lung disease (such as asthma, bronchitis, and emphysema); Find the cause of shortness of breath; Measure whether exposure to chemicals at work affects lung function; Check lung function before someone has surgery. Assess the effect of medication; Measure progress in disease treatment. Lung Function Test PFT Respiratory Function Test Normal values are based upon your age, height, ethnicity, and gender. Normal results are expressed as a percentage. A value is usually considered abnormal if it is less than 80% of your predicted value. Pulmonary Function Test An elevation of pulmonary arterial systolic pressure (PASP) (>25 mmHg at rest or >30 mmHg with exercise). Simonneau et al 2013 J Am Coll Cardiol; Ataga et al. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. Perhaps use description from term in existing ontology? yes Multifactorial, including chronic thromboembolism, splenectomy, high cardiac output, left-heart disease, and hyperviscosity; the role of an inactivation of nitric oxide by free plasma hemoglobin due to chronic hemolysis is controversial. Chest pain and poor exercise tolerance. Pulmonary Hypertension A measurement device, usually attached to the earlobe or fingertip, that measures the oxygen saturation of arterial blood. ERO:0000876 Only label adapted Blood Oxygen Monitor Oxygen Monitor Pulse Oximeter A non-invasive method that provides estimates of arterial oxyhemoglobin saturation by utilizing selected wavelengths of light to determine the saturation of oxyhemoglobin. no PhenX protocol: Pulse Oximetry (Rest) #091101 This measure is used to determine if study subject's oxygenation level is unstable. The pulse oximeter consists of a small device that clips to the body (typically a finger, earlobe or an infants foot) and transfers its readings to a reading meter by wire or wirelessly. The device uses light-emitting diodes in conjunction with a light-sensitive sensor to measure the absorption of red and infrared light in the extremity. The difference in absorption between oxygenated and deoxygenated hemoglobin makes the calculation possible. Pulse Oximetry (Rest) Any manifestation of a skin disease associated with the production of pus. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0000999 no Bacterial infection or skin infection. Impetigo, impetigo contagiosa, ecthyma, folliculitis, Bockhart's impetigo, furuncle, carbuncle, tropical ulcer, pyoderma gangrenos (autoimmune). Pus-Filled Lesion Pyoderma A measure used to assess patient-reported utilization and perceptions about quality of care for individuals treated for sickle cell disease (SCD). Include as sub-classes: ASQE-Me - Quality of Care in SCD Consumer Assessment of Healthcare Providers and Systems (CAHPS) Health Plan Survey 4.0 Child Medicaid Questionnaire no These questions are used to assess the patient-reported health care needs and quality of service from health care providers for individuals with chronic conditions such as sickle cell disease (SCD). Quality of Care Measure The levels of excellence which characterize the health service or health care provided based on accepted standards of quality. MESH:D011787 no Quality of Care Health Care Quality Healthcare Quality Quality of Healthcare Quality of Health Care 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. WHOQOL Measuring Quality of LIfe. WHO/MSA/MNH/PSF/97.4 QOL no Health Related Quality of Life QOL Health Status WHO QOL: Individual's perception of their position in life in the context of the culture and value systems in which they live and in relation to their goals, expectations, standards and concerns. It is a broad ranging concept affected in a complex way by the person's physical health, psychological state, level of independence, social relationships, personal beliefs and their relationship to salient features of their environment. Quality of Life The subjective measurement of an individual's sense of well-being and ability to enjoy life, and the levels of excellence which characterize the health service or health care provided to individuals based on accepted standards of quality. Include the term "Transition from pediatric care" somewhere...see the source provided here. Quality of Life and Care Quality of Life and Care Measure A questionnaire to assess the physical, emotional, and social impact of chronic conditions, such as sickle cell disease (SCD). Include as sub-classes: PedsQL Sickle Cell Disease Module ASCQ-Me - Quality of Life in SCD no 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). Quality of Life in SCD Quality of Life in Sickle Cell Disease This is a measure to assess quality of life (QOL) based on how the individual has felt over the past 7 days. Include as sub-classes: PROMIS Pediatric Profile 25 PROMIS Adult Profile 29 ...and their parent class no Information collected from this questionnaire can be used to assess the individual’s current quality of life, which may influence emotional and physical problems. Quality of Life Measure SCDO Sickle cell symptoms where there is evidence of some relation with quality of life. Quality of Life Related SCD Symptoms and Complications QALYs are used primarily to correct a person's life expectancy based on the levels of health-related quality of life they are predicted to experience throughout the course of their life, or part of it. The number of QALYs lived by an individual in one year is simply: QALYs lived in one year = 1 * Q with Q ≤ 1; where Q is the health-related quality of life weight attached to the relevant year of life. I.e. QALY assumes a utility value (quality of life) of 1 = perfect health and a utility value of 0 = dead: Years of Life x Utility Value = Number of QALYs. E.g. If a person lives in perfect health for one year, that person will have 1 QALY (1 Year of Life × 1 Utility Value = 1 QALY), If a person lives in perfect health but only for half a year, that person will have 0.5 QALYs (0.5 Years of Life x 1 Utility Value = 0.5 QALYs) OR if a person lives for 1 year in a situation with 0.5 utility (half of perfect health), that person will also have 0.5 QALYs (1 Year of Life x 0.5 Utility Value = 0.5 QALYs). In cost-effectiveness evaluations the QALY is used to quantify the effectiveness of, for instance, a new medication versus the current one. In other words, the current standard of care is taken as the baseline, and the QALYs gained from the new (improved) intervention are counted in addition. QALY Review description. Perhaps move some info to a comment? Check and show which source was used for the description and whether the description was adapted from the source. Multiple countries and cultural groups Self; Proxy All Standard global assessment of health interventions, also used in SCD studies Children and adults no QALY Quality-Adjusted Life Year Quality-Adjusted Life Year (QALY) Quality-Adjusted Life Year (QALY) - removed - see Quality of Life and Care Measure Collection of data obtained from voluntary subjects. The information usually takes the form of answers to questions, or suggestions. Predetermined sets of questions used to collect data - clinical data, social status, occupational group, etc. MESH:D011795 Label and description adapted Questionnaire 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? NCIT:C17049 no Race is used to stratify study populations and to associate those populations with physical, geographic, biological, social, and cultural characteristics (e.g., African Americans). Race is a social and epidemiological factor, and individuals of some races are at greater risk for certain diseases. Racial Group Race Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film). MESH:D011859 no Imaging by X-Ray X-Ray Radiography X-Ray Imaging The production of an image obtained by cameras that detect the radioactive emissions of an injected radionuclide as it has distributed differentially throughout tissues in the body. The image obtained from a moving detector is called a scan, while the image obtained from a stationary camera device is called a scintiphotograph. "Scintigraphy" was removed from below this class as it is in fact an exact synonym. D011877 no Imaging by Radionuclide Scintigraphy Radionuclide Imaging A work that reports on a clinical trial that involves at least one test treatment and one control treatment, concurrent enrollment and follow-up of the test- and control-treated groups, and in which the treatments to be administered are selected by a random process, such as the use of a random-numbers table. MESH:D016449 no Randomized Controlled Trial The Rapid Estimate of Adolescent Literacy or REALM-Teen is a valid, reliable, easy-to-administer tool that will allow health professionals to screen youth in grades 6-12 for below-grade reading. The REALM-Teen is a reading recognition instrument, modeled after the Rapid Estimate of Adult Literacy in Medicine (REALM), the most commonly used tool to screen adults for low literacy in health care settings. The REALM-Teen is a reading recognition instrument which measures an individual’s ability to pronounce words in ascending order of difficulty. All test words are commonly used adolescent health terms. Davis TC, Wolf MS, Arnold CL, Byrd RS, Long SW, Springer T, Kennen E, Bocchini JA. (2006). Development and validation of the Rapid Estimate of Adolescent Literacy in Medicine (REALM-Teen): a tool to screen adolescents for below-grade reading in health care settings. Pediatrics 118(6):e1707-14. REALM-Teen Check and show which source was used for the description and whether the description was adapted from the source. Also these properties: has cross-cultural adaptation freely available has translations Self Adolescents with SCD Used in SCD studies Adolescents REALM-Teen Rapid Estimate of Adolescent Literacy in Medicine Rapid Estimate of Adolescent Literacy in Medicine (REALM-Teen) A questionnaire that assesses recovery and recurrence of stroke in children. It is completed by a parent about their child. PX820702 yes PhenX protocol: Recovery and Recurrence Questionnaire (RRQ) - Pediatrics #820702 Proxy (Parent) Children and adolescents who have a stroke, ages 0-18 0-18 yes Life stage: Infant, Toddler, Child, Adolescent Recovery and Recurrence Questionnaire (RRQ) Recurrent episodes of wheezing in a persons with SCD who have no co-morbid asthma. Knight-Madden et al 2014 Ped Resp Rev; Glassberg et al 2014 Curr Opin Pediatr. RWIS Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. Likely related to inflammation of SCD. Other markers of severity of SCD- eg complications of SCD, high LDH. Recurrent Wheeze in Sickle Cell Disease 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. CMO:0000025 no Erythrocyte Count Erythrocyte Number Erythrocyte Numbers Red Blood Cell Count 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. CMO:0001356 no Erythrocyte Measurement Red Blood Cell Measurement A bioassay to measure levels of red blood cell microparticles. More info can be taken from the dc:source provided. Perhaps add MeSH term "Cell-Derived Microparticles" as a superclass of this term? The description given is actually one for an assay that measures "Red Blood Cell Microparticles Level". It should be used to create the relevant assay term under "Diagnostic Tool" and a more appropriate description needs to be provided fro this term. This protocol provides instructions for drawing, processing, and storing blood according to the National Health and Nutrition Examination Survey (NHANES) methods. Because there are many comparable assays for measuring red blood cell microparticle levels, the protocol also provides basic guidelines to aid comparability among different studies. Red blood cell microparticle levels are associated with hemolysis and anemia, sickle cell disease, thrombosis, and cardiovascular disease. Cell-Derived Microparticles EMP Level Erythrocyte-Derived Microparticles Level Red Blood Cell Microparticles Level Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia. HP:0011905 no Reduced Hemoglobin A Restoration of human functions to the maximum degree possible in a person or persons suffering from disease or injury. MESH:D012046 no Habilitation Rehabilitation Reincarnation is the philosophical or religious concept that an aspect of a living being starts a new life in a different physical body or form after each biological death. no Rebirth Transmigration Reincarnation A set of beliefs concerning the nature, cause, and purpose of the universe, especially when considered as the creation of a superhuman agency. It usually involves devotional and ritual observances and often a moral code for the conduct of human affairs. MESH:D012067 no Religiosity Religious Beliefs Religion The presence of stenosis of the renal artery. RAS Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0001920 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. Narrowing of Kidney Artery Renal Artery Stenosis Therapy for the insufficient cleansing of the BLOOD by the kidneys based on dialysis and including hemodialysis, peritoneal dialysis, and hemodiafiltration. Include types of renal dialysis as sub-classes: Peritoneal dialysis Hemodialysis Pediatric dialysis? Hemofiltration Hemodiafiltration MESH:D006435 no Dialyses, Renal Extracorporeal Dialyses Extracorporeal Dialysis Haemodialysis Hemodialyses Renal Dialyses Renal Dialysis Inadequate blood flow to one or both kidneys, or nephrons, usually due to functional constriction or actual obstruction of blood vessels. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. Move to below "Ischemia"? MP:0011758 no Loss of adequate blood flow may be due to obstruction of blood vessels - large or small or due to low flow states such as prolonged hypotension. Usually associated with kidney injury as noted by decrease in urine output and/or elevation in serum creatinine. kidney ischemia Renal Ischemia The transference of a kidney from one human or animal to another. MESH:D016030 Only label adapted Kidney Grafting Kidney Transplantation Kidney Transplantations Renal Transplantation Renal Transplantations Renal Transplant Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids. RTA Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0001947 yes Has multiple types - Type 1 (Distal RTA), Type 2 (Proximal RTA), Type 4 (Hyperkalemic RTA). Sickle cell disease may demonstrate a voltage dependent Type 1 RTA. Defects in the kidneys in reabsorption of bicarbonate (HCO3), the excretion of hydrogen ions (H+), or both. A relatively normal GFR and a metabolic acidosis accompanied by hyperchloremia and a normal plasma anion gap. RTA Renal Tubular Acidosis The respondent's pregnancy history. For females it is with regard to their number of pregnancies, description of pregnancies and smoking during pregnancy. For males, it is with regard to whether they have ever fathered a pregnancy and, if so, the description of the pregnancy. PX101300 yes PhenX protocol: Reproductive History - Female #101301 PhenX protocol: Reproductive History - Male #101302 The purpose of this measure is to assess the demonstrated fecundity and fertility of the individual. This measure can also be used for estimating certain in utero exposures if the research subject is an infant. Reproductive History Anatomical system that has as its parts the organs concerned with reproduction. UBERON:0000990 no Genital Tract Reproductive Tract Reproductive System Systematic investigation into a subject in order to discover facts, establish or revise a theory, or develop a plan of action based on the facts discovered. Consider other sub-classes of this in NCIT. NCIT:C15429 no Research Activity Respiratory rate is the number of breaths an individual takes within a specific amount of time (frequently given in breaths per minute). PX091400 no PhenX protocol: Respiratory Rate - Adult Protocol #091403 PhenX protocol: Respiratory Rate - Child Protocol #091402 PhenX protocol: Respiratory Rate - Infant Protocol #091401 Respiratory rate is a low-burden, quantitative variable that can be used to distinguish individuals with and without various forms of lung disease. Breathing Frequency Pulmonary Ventilation Rate Respiration Rate Respiratory Rate Lungs and respiratory system of the body. yes Pulmonary System Patients with SCD have a unique pathophysiology that puts the microvasculature of the lung at particular risk for complications. Respiratory System A measurement to assess the morphological or physiological state of the respiratory system or portion of the respiratory system. CMO:0000094 no Respiratory System Measurement PCR-restriction fragment length polymorphism (RFLP)-based analysis, also known as cleaved amplified polymorphic sequence (CAPS), is a popular technique for genetic analysis. It has been applied for the detection of intraspecies as well as interspecies variation. There exist several techniques that are related with PCR-RFLP and also involve gel electrophoresis including techniques for DNA fingerprinting and expression profiling. PCR-RFLP Restriction Fragment Length Polymorphism - Polymerase Chain Reaction Restriction Fragment Length Polymorphism PCR A bioassay to measure the number of reticulocytes (immature red blood cells). A reticulocyte count (also known as a retic count, reticulocyte index, or corrected reticulocyte) is a measurement and percentage of how many reticulocytes are in the blood. This count indicates whether enough red blood cells are being produced in the bone marrow. PX810600 no This protocol provides instructions for drawing, processing, and storing blood according to the National Health and Nutrition Examination Survey (NHANES) methods. Because there are many comparable assays and instruments for measuring reticulocyte count, the protocol also provides basic guidelines to aid comparability among different studies. Reticulocyte count measures how fast red blood cells are made. Elevated reticulocyte counts are associated with blood loss, hemolysis and hemolytic anemia, and in response to the anemia of clinical conditions such as sickle cell. Reticulocyte Count A reticulocyte count that was performed with an electronic haematology analyzer Reticulocyte Count by Hematology Analyzer A reticulocyte count that was performed with microscopy. Reticulocyte Count by Microsocopy A procedure that uses intense cold to induce a chorioretinal scar and to destroy retinal or choroidal tissue. yes Retinal Cryotherapy Retinal Cryopexy Separation of the retina from the choroid and eye wall due to holes in the retina and traction on the retina by vitreous bands and condensed preretinal membranes (usually as sequelae of proliferative sickle retinopathy). Retinal detachment is the most severe complication (Stage V) of proliferative sickle retinopathy. Ballas et al 2010 Am J Hematol Bonanomi et al 2013 Arq Bras Oftalmol EFO:0005773 Ballas et al 2010 Am J Hematol no Often a complication of sickle retinopathy. Classification: If the retinal detachment is confined to the peripheral fundus, visual acuity may not be affected, but if the detachment extends to macula, severe reduction of visual acuity ensues. If no holes are found in the detached retina, the detachment is thought to be tractional in nature. Usually, sickle cell detachments of the retina are caused by traction and not from a hole forming in retinal tissue (serous or rhegmatogenous detachment). If the retina can be visualized to be elevated from the wall of the eye, the diagnosis of retinal detachment can be made. Retinal detachment should be considered an ophthalmologic emergency, whether or not visual acuity is affected. Surgery for reattachment should be done as soon as possible. Retinal Detachment An examination of the retina of the eye. NCIT:C101217 yes Fundoscopy Eye examination with dilated pupils to be able to assess the entire retina. Retinal Examination Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons. Retrospective Studies 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. MP:0003561 no Presence of auto antibodies that attack his or her own body tissues, the exact cause is unknown. inflammation of the small joints in the hands and feet that produces pain, swelling and stiffness. People can also have fever, tiredness. Osteoarthrosis Deformans Rheumatoid Arthritis A diagnostic procedure in which a catheter is guided into the right heart, where pressures may be measured and radiocontrast material may be injected to visualize blood flow in and around the right heart. C80411 no Right Heart Catheterization A rural area is an open swath of land that has few homes or other buildings, and not very many people. Copied this below "Geographic Location" under "Disease Modifiers". no Rural Area Rural Setting Rural is normally about population density. But the definition of rural can have a different meaning depending on the context. Rural Location Round or oval-shaped intraretinal accumulation of erythrocytes that may be up to 2 mm in diameter. This small intraretinal hematoma is initially red and becomes salmon colored with time. Ballas et al 2010 Am J Hematol no Salmon Patch Hemorrhages Diagnostic Criteria: Eye exam using direct and indirect ophthalmoscopy as well as slit lamp biomicroscopy. With fundus photography, white arterioles may be noted adjacent to the arteriole that is the source of blood. With fluorescein angiography, nonperfusion of the adjacent arteriole may be seen. Severity Index: The blood may spontaneously resolve with time. If not, vitrectomy (removal of vitreous) may be required. Salmon Patch Hemorrhage Studies in which a number of subjects are selected from all subjects in a defined population. Conclusions based on sample results may be attributed only to the population sampled. MESH:D012494 Sampling Studies SCDO Pain resulting from the presence of Sickle Cell Disease (SCD). Such pain can be acute, chronic or a mixture of the two. Okpala I., Tawil A. Management of pain in sickle-cell disease. Journal of the Royal Society of Medicine. 2002;95(9):456-458. doi: 10.1258/jrsm.95.9.456 SCD Pain SCD Related Pain 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 HP:0011868 no 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. Sciatica An operation for retinal detachment which reduces the size of the globe by indenting the sclera so that it approximates the retina. MESH:D012591 no Scleral Buckle Surgery Scleral Bucklings Scleral Buckling The presence of an abnormal lateral curvature of the spine. Provide source for additional info. HP:0002650 no Congenital vertebral anomalies, idiopathic, result of a neuromuscular condition. Spinal tortuosity. Curvature of Spine Curved Spine Scoliosis Specialized healthcare delivered as a follow-up or referral from a primary care provider. MESH:D063127 no Secondary Care Secondary Health Care Secondary Healthcare A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion. Provide source for additional info. HP:0008245 no Fatigue or a general listless feeling, Unintentional weight gain, Increased sensitivity to cold, Noticeable thinning and brittleness of fingernails or hair, Heavier periods than normal, Pain in muscles or joints, Weakness and overall tired feeling. TSH deficient hypothyroidism Thyroid stimulating hormone deficiency Thyrotropin deficiency Secondary Hypothyroidism Usual level of physical activity that is less than 30 minutes of moderate-intensity activity on most days of the week. MESH:D057185 no Sedentary Lifestyle 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. Provide source for additional info. HP:0001250 Label and description adapted Seizures fall into two main groups. Focal seizures, also called partial seizures, happen in just one part of the brain. Generalized seizures are a result of abnormal activity on both sides of the brain. Seizures Epilepsy Seizure Performance of activities or tasks traditionally performed by professional health care providers. The concept includes care of oneself or one's family and friends. MESH:D012648 no Self Management Self-Care Self-Management Self Care Cognitive mechanism based on expectations or beliefs about one's ability to perform actions necessary to produce a given effect. MESH:D020377 yes Self-Concept Self Efficacy The weight in kilograms or pounds as reported by the participant. no PhenX protocol: Weight - Self-Reported Weight #021502 Self-reported weight values are considered to be less accurate and are used only when measured weight cannot be obtained. Self-Reported Weight Peripheral neuropathy affecting the sensory nerves. HP:0000763 Peripheral Sensory Neuropathy Sensory Neuropathy Severe systemic inflammatory response to infection. Source needed for additional information. Perhaps include different types of sepsis (see under D018805 in MESH)? HP:0100806 yes Mild, moderate, severe Bacteria and fungus mainly Systematic manifestations of inflammation Sepsis Epidemiologic studies based on the detection through serological testing of characteristic change in the serum level of specific antibodies. Latent subclinical infections and carrier states can thus be detected in addition to clinically overt cases. Seroepidemiologic Studies 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"? CMO:0000057 no Serum creatinine concentration is the most standardized way to calculate glomerular filtration rate (GFR) as a measure of kidney function. Creatinine Level Serum Creatinine Level The proportion, quantity, or volume in whole blood, serum, or plasma of the small lipoprotein:cholesterol complex that transports cholesterol out of the arteries and to the liver for reprocessing or excretion. VT:0000184 no Blood HDL Cholesterol Amount Blood High Density Lipoprotein Cholesterol Amount Circulating HDL Cholesterol Amount Circulating HDL Cholesterol Level HDL Cholesterol Level HDL Level Serum HDL Cholesterol The SF-36v2 Health Survey is a 36-item instrument for measuring health status and outcomes via patient self-report. It is designed for use in surveys of general and specific populations, health policy evaluations, and clinical practice and research. The SF-36v2® measures the following eight health concepts, which are relevant across age, disease, and treatment groups: physical functioning, role limitations due to physical health problems, bodily pain, general health, vitality (energy/fatigue), social functioning, role limitations due to emotional problems, and mental health (psychological distress and psychological well-being). Both standard (4-week) and acute (1-week) recall versions are available. The survey’s standardized scoring system yields a profile of eight health scores and two summary measures (physical and mental health) and a self-evaluated change in health status. Check and show which source was used for the description and whether the description was adapted from the source. Also these properties: has cross-cultural adaptation freely available has translations Self Healthy people; Clinic patients Demonstrated validity with SCD populations; multiple publications using the measure in SCD; very widely used with healthy populations and those with chronic conditions Adults 18 years and older SF-36v2 Health Survey Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0011413 no Fetal macrosomia, diabetes, maternal obesity. Shoulders fail to deliver shortly after the fetal head. Shoulder Dystocia Chronic restrictive lung disease in SCD. Powars et al 1988 Medicine (Baltimore), Knight-Madden et al 2010 Lung. Flesh out description a bit more. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. Perhaps move below "Chronic Restrictive Lung Disease"? yes Chronic SCD related lung inflammation, with risk increasing with episodes of ACS. Restricive lung disease often associated with chest pain and hypoxemia. May also be associated with pulmonary hypertension. Sickle Cell Chronic Lung Disease A measure of stigma among adults living with Sickle Cell disease. Focus on; depressive symptoms, pain, assertive communication, satisfaction with pain management experience, and health-related stigma. Jenerette C, Brewer CA, Crandell J, Ataga KI. Preliminary validity and reliability of the Sickle Cell Disease Health-Related Stigma Scale.Issues Ment Health Nurs.2012 Jun;33(6):363-9. SCD-HRSS Check whether the description was adapted from the description source. Note: the source is not freely accessable...needs proper referencing. Also these properties: has respondents has target population selection criteria met validated for age ranges has cross-cultural adaptation freely available has translations The source require access to the paper and the description source require logins SCD-HRSS Sickle Cell Disease Health-Related Stigma Scale Sickle Cell Disease Health-Related Stigma Scale (SCD-HRSS) The SCPBI-Y is a brief clinical interview designed to assess pain burden for children and adolescents with SCD. Zempsky WT, O'Hara EA, Santanelli JP, Palermo TM, New T, Smith-Whitley K, Casella JF. Validation of the sickle cell disease pain burden interview-youth. J Pain. 2013 Sep;14(9):975-82. Check and show which source was used for the description and whether the description was adapted from the source. Also these properties: has respondents has target population selection criteria met validated for age ranges has cross-cultural adaptation freely available has translations Sickle Cell Disease Pain Burden Interview - Youth In SNOMED CT Sickle Cell Disease Screening Test A nine-item self-administered questionnaire that measures disease-specific perceptions of the ability to manage day-to-day issues resulting from sickle cell disease (SCD). Items are scores according to a five-point scale ranging from "1 - Not sure at all" to "5 - Very sure." Responses from individual items are summed to give an overall score with higher scores indicating greater self-efficacy. no Self Clinic Patients (Adults with SCD) Self-efficacy, or one’s perceptions that they can exercise control over their behaviors and environment, may play an important role in determining the ability to adjust to chronic conditions such as sickle cell disease (SCD). 18 and older Self-efficacy in Sickle Cell Disease Life stage: Adult Sickle Cell Disease Self-Efficacy Scale Any hemoglobinopathy in which the sickle mutation is inherited in combination with another globin gene mutation (eg, alpha globin, beta globin, gamma globin). These hemoglobinopathies may have different clinical severity compared with homozygous sickle mutation (HbSS). yes Variant Sickle Cell Syndromes Sickle Cell Disease Variant A form of therapy that employs a coordinated and interdisciplinary approach for easing the suffering and improving the quality of life of those experiencing sickle cell related pain. Label and description adapted Sickle Cell Pain Managements Sickle Cell Pain Management Pain lasting at least two hours that requires an unscheduled emergency room visit or hospitalization or that disrupts daily activities. Could be categorised as a phenotype "Finding". yes Pain Episode Painful Event Sickle Cell Pain Episode Sickle Cell Painful Event An aggressive form of non–clear cell kidney cancer that typically affects young adults and is almost exclusively associated with sickle cell trait. RMC Should this not be divided into 2 terms? "Sickle Cell Related Cancer" with "Renal Medullary Cancer" as a subclass? no Renal Medullary Cancer Renal Medullary Carcimoma Sickle Cell Related Cancer The condition of being heterozygous for hemoglobin S. MESH:D012805 no AS AS Genotype Hb S-Carrier A powerful protector against malaria. Affected gene: HBB gene (with an autosomal recessive pattern of inheritance) Affected protein: Hemoglobin subunit beta (UniProt Number: P68871) Sickle Cell Trait A mild form of sickle cell thalassemia characterized by the presence of hemoglobin S and a small amount of hemoglobin A in the red blood cells. It is characterized by the presence of small red blood cells and mild anemia. SCD-S Beta Plus Thal NB to re-examine this term's name. NCIT:C98837 no Sickle B+ Thalassemia Sickle Beta Plus Thalassemia Sickle Cell-B+ Thalassemia Sickle Cell-Beta Plus Thalassemia The reduced production of hemoglobin A is due to reduced production of beta globin. Sickle Cell Disease-S Beta Plus Thalassemia Sickle Cell-Beta Thalassaemia is an inherited form of sickle cell disease that affects red blood cells both in the production of abnormal hemoglobin, as well as the decreased synthesis of beta globin chains. SCD-S Beta Thal no HbSBetaThal S Beta-Thalassemia Sickle Beta Thalassaemia Sickle Beta-Thalassaemia Sickle Cell-Beta Thalassaemia Not sure about the description Sickle Cell Disease-S Beta Thalassaemia A form of sickle cell thalassemia characterized by the absence of hemoglobin A. Patients usually have severe anemia identical to that seen in sickle cell disease. Requires further refinement. NCIT:C98835 no Hb S Beta 0 Thalassemia Hemoglobin S Beta 0 Thalassemia S Beta 0 Thalassemia Sickle Beta 0 Thalassemia Sickle Cell-Beta 0 Thalassemia Sickle Cell-Beta Zero Thalassemia A confusing diagnostic problem is the differentiation of Hb S/Beta-Zero Thal from sickle cell anemia associated with alpha-thalassemia. Hematologic and electrophoretic studies are unable to distinguish between the two conditions and so family studies and DNA analysis are needed to confirm the diagnosis The absence of hemoglobin A is due to no production of beta globin. Sickle Cell Disease-S Beta Zero Thalassemia One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia. SCD-SC MESH:D006450 no Hb SC-disease Hemoglobin S / Hemoglobin C Disease Hemoglobin SC Disease SC Disease Sickle Cell Disease SC Sickle Cell Hemoglobin C Disease Sickle Cell-Haemoglobin C Disease Sickle Cell-Hemoglobin C Disease Affected gene: HBB gene (with an autosomal recessive pattern of inheritance) Affected protein: Hemoglobin subunit beta (UniProt Number: P68871) Hemoglobin S can distort red blood cells into a sickle (crescent) shape. Hemoglobin C prevents red blood cells from carrying oxygen effectively. Sickle Cell Disease-SC One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin D. It is similar to, but less severe than sickle cell anemia. SCD-SD yes 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 Affected gene: HBB gene (with an autosomal recessive pattern of inheritance) Affected protein: Hemoglobin subunit beta (UniProt Number: P68871) Hemoglobin S can distort red blood cells into a sickle (crescent) shape. Hemoglobin D prevents red blood cells from carrying oxygen effectively. Sickle Cell Disease-SD SCD-S/D-Punjab Hemoglobin S/D-Punjab Sickle Cell-Haemoglobin D-Punjab Sickle Cell-Hemoglobin D-Punjab Disease Common hemoglobin variants worldwide, but prevalent in the Punjab region, Northwestern Indian. It is named Sickle Cell-Hemoglobin D-Punjab, because of its higher prevalence in the Punjab region of India and Pakistan. Sickle Cell Disease-S/D-Punjab One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin E. It causes mild hemolytic anemia. Ohashi; et al. (2004). "Extended linkage disequilibrium surrounding the hemoglobin E variant due to malarial selection". Am J Hum Genet. 74 (6): 1189–1208. doi:10.1086/421330. PMC 1182083Freely accessible. PMID 15114532 SCD-SE yes Hb SE-Disease Sickle Cell Disease SE Sickle Cell-Haemoglobin E Disease Sickle Cell-Hemoglobin E Disease Affected gene: HBB gene (with an autosomal recessive pattern of inheritance) Affected protein: Hemoglobin subunit beta (UniProt Number: P68871) Hemoglobin E is most prevalent in Southeast Asia (Thailand, Myanmar, Cambodia, Laos, Vietnam). Hemoglobin S can distort red blood cells into a sickle (crescent) shape. Hemoglobin D prevents red blood cells from carrying oxygen effectively. When these mutations occur together, they can cause mild hemolytic anemia. Sickle Cell Disease-SE Sickle cell-Hb Lepore Boston syndrome is a type of sickle cell disease (HbS) that differs from homozygous sickle cell disease where both parents carry sickle hemoglobin. In this variant one parent has the sickle cell hemoglobin the second parent has Hb Lepore Boston, the only one of the three variants described in association with HbS. Hb S, Lepore Boston SCD-S/Lepore Boston no Sickle Cell Disease-S/Lepore Sickle Cell-Hb Lepore Boston Syndrome Sickle Cell-Hemoglobin Lepore Boston Syndrome Hb Lepore Washington, also known as Hb Lepore Boston or Hb Lepore Washington-Boston; most common in Italians from Southern Italy Sickle Cell Disease-S/Lepore Boston One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin O-Arab. It can cause anemia, repeated infections, and periodic episodes of pain and organ damage. SCD-S/O-Arab Yes Hb F,S,O-Arab Hb S O-Arab disease Hb S,O-Arab Hemoglobin S O-Arab Disease SO(Arab) disease Sickle Cell-Haemoglobin O-Arab Disease Sickle Cell-Hemoglobin O-Arab Disease Affected gene: HBB gene (with an autosomal recessive pattern of inheritance) Affected protein: Hemoglobin subunit beta (UniProt Number: P68871) Found mainly in Gypsies and in Pomaks (a population group in the Balkan countries) and also in Arabian, Egyptian, and Black families. Sickle Cell Disease-S/O-Arab A variant of sickle cell disease in which individuals have atypical hemoglobin molecules called hemoglobin S together with another form of abnormal hemoglobin, other than hemoglobin C,D,E and O-Arab. yes Hb S Other than A,C,D,E,O-Arab Sickle Cell-Hemoglobin Other than A,C,D,E,O-Arab Hemolytic anemia, in which patients are heterozygous for both the sickle cell gene and a thalassemia gene. NCIT:C61237 no Common worldwide due to migration. Sickle Cell-Thalassemia Retinal changes of sickle cell disease that can be either proliferative or non-proliferative. In both cases, the changes are caused by erythrostasis secondary to sickling. Bonanomi et al 2013 Arq Bras Oftalmol Use the scielo source to add info on diagnosis and treatment Bonanomi et al 2013 Arq Bras Oftalmol yes Sickle Cell Disease Lesions such as retinal black sunburst, sea fans and others. Retinopathy due to SCD Sickle Cell Retinopathy The frequency of retinopathy is greatest in adulthood, but retinopathy has also been described in children. The incidence of proliferative retinopathy is highest in patients with SC or S-Thal (33% and 14% respectively), while patients with SS have a 3% incidence of proliferative retinopathy. Sickle Retinopathy In SNOMED CT this term seems to be both "Sickle cell identification, slide method" and "Sickling Test" Sickle cell identification, slide method Sickling Test A generic measure used to evaluate the impact of SCD on both physical and emotional functioning of an affected person. SIP is designed to measure perceived health status and to be used as an outcome measure for evaluation, program planning, and policy formation related to health care. It is designed in such a way as to reflect sensitivity to changes and/or differences in health status and to be applicable across a broad range of types and severities of the SCD illness, as well as different demographic and cultural groups. Bergner M., Bobbitt R.A., Carter W.B. and Gilson B.S. (1981). The Sickness Impact Profile: development and final revision of a health status measure. Medical Care 19,787-805. SIP Source require access to the article. These annotation properties still required: has respondents has target population selection criteria met validated for age ranges has cross-cultural adaptation freely available has translations yes SIP Sickness Impact Profile Sickness Impact Profile (SIP) The bodily system consisting of the skin and its associated structures, such as the hair, nails, sweat glands, and sebaceous glands. integumentary system. (n.d.) The American Heritage Medical Dictionary. (2007). Retrieved December 14 2016 Only label adapted Dermatologic System Integumentary System Skin 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. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0011123 no Infections, chemicals, physical agents such as radiation. Reddening or hyperpigmentation of the skin with or without swelling. Abnormal tendency to infections of the skin Maculopapular Rash Dermatitis Inflammatory skin disease Skin Inflammation Focal pathological and/or inflammatory changes characterized by alteration in the size, shape and organization of the cellular components of the skin. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. MP:0001212 no Congenital, iatrogenic. Change in colour, smell, shape, texture of the skin. Skin Lesions An abnormal change in skin color, appearance, or texture. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. yes Skin inflammation which has many causes Change in colour or texture of the skin. Skin Rash A discontinuity of the skin exhibiting loss of the epidermis and often portions of the dermis and subcutaneous fat. Find source for additional info HP:0200042 yes Wagner's grading of ulcer. Wounds from which ulcers arise can be caused by a wide variety of factors, but the main cause is impaired blood circulation and trauma. Open craters, often round, with layers of skin that have eroded, the skin around the ulcer may be red, swollen, and tender, may cause pain on the skin around the ulcer, and fluid may ooze from the ulcer, in some cases, ulcers can bleed. Skin Ulcers Skin Ulcer An intrinsic sleep disorder characterized by breathing abnormalities. SBD NBO:0000494 no SBD Sleep Apnea Sleep Apnea Syndromes Sleep Breathing Disorder SCDO This measure is a clinical assessment of an individual’s sleep and breathing activities. This measure is used to evaluate the presence and symptoms of sleep disorders, including obstructive sleep apnea and hypoxemia that may impact medical and psychosocial complications of individuals with sickle cell disease. no The American Academy of Sleep Medicine (AASM) “Manual for the Scoring of Sleep and Associated Events: Rules, Terminology and Technical Specifications” provides instructions for performing and evaluating polysomnograms (PSGs). It contains details regarding electrode placements, standard montages, and digitization parameters, as well as instructions for scoring sleep stages, arousals, movements during sleep, respiratory events during sleep, and cardiac events. The manual is designed to be administered by physicians and technologists who score sleep studies. The manual is a proprietary online publication that is available for a fee at the AASM website: In addition to the manual, the AASM website provides practice parameters regarding respiratory indications for PSG in children. Polysomnography involves comprehensive recording of the biophysiological patterns that occur during sleep. The PSG typically records the following parameters: brain (EEG), eye movements (EOG), muscle activity or skeletal muscle activation (EMG) and heart rhythm (ECG), respiratory airflow and effort, pulse oximetry and carbon dioxide levels during sleep. The American Academy of Sleep Medicine (AASM) “Manual for the Scoring of Sleep and Associated Events” is an online comprehensive guide for polysomnographic evaluations and is available in desktop, tablet, and mobile device formats. The manual was developed by a committee of sleep experts, is periodically updated, and scoring rules revised based upon an extensive literature review and analysis. Access to the manual is available via subscription. (See website for additional subscription information). This manual is a proprietary instrument of the AASM and can be obtained through the American Academy of Sleep Medicine (AASM) website. Sleeping Disordered Breathing A microscope with a light source that can be projected into a linear beam. It allows cross-sectional viewing of the aqueous humor; conjuncteiva; cornea; eyelids; iris; and lens of the eye. MESH:D066167 no Slit Lamp Examination of the anterior segment of the eye using a medical instrument called a slit lamp. NCIT:C75583 no SLIT LAMP Slit-Lamp Biomicroscopy Slit-Lamp Eye Exam Alternative definition: An eye exam using an instrument that combines a low-power microscope with a light source that makes a narrow beam of light. The instrument may be used to examine the retina, optic nerve, and other parts of the eye. Slit-Lamp Examination Inhaling and exhaling the smoke of burning tobacco (Cigar, Cigarette, Hookah, Pipe, Smoking, Waterpipe). MESH:D012907 yes Smoking Discontinuation of the habit of smoking, the inhaling and exhaling of tobacco smoke. MESH:D016540 no Quit Smoking Smoking Cessation 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. NCIT:C29719 no Smoking History The aggregate of social and cultural institutions, forms, patterns, and processes that influence the life of an individual or community. MESH:D012931 no Social Ecology Social Environment Social functioning defines an individual's interactions with their environment and the ability to fulfill their role within such environments as work, social activities, and relationships with partners and family. PROMIS Domain Frameworks/Definitions nih.promis.org Include terms for social relationships; social activities? Compr Psychiatry. 2000 Jan-Feb;41(1):63-9. Assessment of social functioning in depression. yes Social Function Social Role Social Functioning The separation of individuals or groups resulting in the lack of or minimizing of social contact and/or communication. This separation may be accomplished by physical separation, by social barriers and by psychological mechanisms. In the latter, there may be interaction but no real communication. MESH:D012934 no Social Isolations Social Isolation A role that is ascribed to individuals in a community. SIO:000676 no Social Function Social Role An extent/ degree to which an individual fulfills the expectations of his/her social role. Needs description source. This relates to the importance of having children (parents with trait; individuals' concerns about reproduction). Social Role Fulfillment The personal set of abilities required to successfully interact and communicate with others, both verbally and non-verbally through gestures, body language and personal appearance. Possessing the social, emotional, and intellectual skills and behaviors needed to succeed as a member of society. MESH:D066107 no Interpersonal Skill Social Ability Social Competence Social Skill Support systems that provide assistance and encouragement to individuals with physical or emotional disabilities in order that they may better cope. Informal social support is usually provided by friends, relatives, or peers, while formal assistance is provided by churches, groups, etc. Malecki CK, Demaray MK. Measuring perceived social support: development of the child and adolescent social support scale (CASSS) Psychol Sch. 2002;39:1–18. doi: 10.1002/pits.10004. MESH:D012944 no Psychosocial Support System Social Network Can be assessed in children using the child and adolescent social support scale. Social Support Abstract standards or empirical variables in social life which are believed to be important and/or desirable. MESH:D012945 no Value Orientations Values Social Values Social and economic factors that characterize the individual or group within the social structure. Maybe have the terms referred to in the comment as sub-classes? There would be overlap with terms in QOL, so would need to work around that. MESH:D012959 no Includes: 1) Educational Status (Educational attainment or level of education of individuals; MeSH Unique ID: D004522); 2) Employment (The state of being engaged in an activity or service for wages or salary; MeSH Unique ID: D004651); 3) Family Characteristics (Size and composition of the family; MeSH Unique ID: D005191); 4) Income (Revenues or receipts accruing from business enterprise, labor, or invested capital; MeSH Unique ID: D007182); 5) Medical Indigency (The condition in which individuals are financially unable to access adequate medical care without depriving themselves and their dependents of food, clothing, shelter, and other essentials of living; MeSH Unique ID: D008489); 6) Occupations (Crafts, trades, professions, or other means of earning a living; MeSH Unique ID: D009790); 7) Poverty (A situation in which the level of living of an individual, family, or group is below the standard of the community. It is often related to a specific income level, MeSH Unique ID: D011203); 8) Social Change (Social process whereby the values, attitudes, or institutions of society, such as education, family, religion, and industry become modified. It includes both the natural process and action programs initiated by members of the community, MeSH Unique ID: D012922); 9) Social Class (A stratum of people with similar position and prestige; includes social stratification. Social class is measured by criteria such as education, occupation, and income, MeSH Unique ID: D012923); 10) Social Conditions (The state of society as it exists or in flux. While it usually refers to society as a whole in a specified geographical or political region, it is applicable also to restricted strata of a society, MeSH Unique ID: D012924). Socioeconomic Factors The combination of one's social class and income level. Includes socioeconomic differences between individuals or groups. no Socioeconomic Status In SNOMED CT this term is "Hemoglobin S Solubility Test" Hemoglobin S Solubility Test Solubility Test A spectrophotometer is an instrument that measures the intensity of light as a function of the color, or more specifically, the wavelength of light, transmitted by a substance. OBI:0400115 no Spectrophotometer Instruments for measuring arterial blood pressure consisting of an inflatable cuff, inflating bulb, and a gauge showing the blood pressure. MESH:D019722 no Sphygmomanometer Sensitivity or attachment to religious values, or to things of the spirit as opposed to material or worldly interests. MESH:D029181 no Spritual Beliefs May influence coping with SCD and its manifestations in a positive or negative way. (SCDO WG) Spirituality A spirometer is an apparatus for measuring the volume of air inspired and expired by the lungs. It is a precision differential pressure transducer for the measurements of respiration flow rates. The spirometer records the amount of air and the rate of air that is breathed in and out over a specified period of time. ERO:0000452 no Spirometer Spirometry is a common Pulmonary Function Test (PFT) measuring the amount (volume) and/or speed (flow) of air being inhaled and exhaled. The protocol source given in PhenX can be used to PX91600 no PhenX protocol: Spirometry #091601 Spirometry is a tool used to screen for the presence of obstructive and restrictive lung diseases. Spirometry Any process carried out to determine the condition of a patient's spleen. Needs relating to Splenomegaly phenotype. no Spleen Examination Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra. Provide source for additional info. HP:0003302 no Spondylolysis, arthritis, degeneration, trauma, metastases or metabolic bone disease, congenital. Spondylolithesis Spondylolisthesis 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. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0005268 yes Smoking, obesity, diabetes, drug and alcohol use, infections, trauma, stress, uterine or hormonal abnormalities, multiple pregnancy, chronic maternal diseases, chromosomal abnormalities. Spontaneous Abortion A form of nephrotic syndrome that does not respond to treatment with steroid medication after 8 weeks, specifically in children. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0012588 yes May represent underlying focal segmental glomerulosclerosis, minimal change disease, or other underlying cause. Can be subseqeunt to known mutations. Persistence of nephrotic syndrome despite appropriate treatment with corticosteroids. Steroid-Resistant Nephrotic Syndrome A perceived attribute that is deeply discrediting and is considered to be a violation of social norms. MESH:D057545 no Social Stigma Social Stigmas Stigmas Stigma An oversimplified perception or conception, especially or persons, social groups, etc. MESH:D013240 no Stereotyping Communities may have stereotypes about the appearance of people with SCD, e.g. if they appear healthy they must not have the disease. Stigmatization A Streptococcal vaccine that is used against S. pneumoniae infection, which causes pneumococcal diseases. VO:0000675 no Streptococcus Pneumoniae Vaccine A group of pathological conditions characterized by sudden loss of neurological function due to brain ischemia or intracranial hemorrhages. Types of stroke relevant to SCD to be added as children of this class. MESH:D020521 yes Brain Vascular Accident Cerebral Vascular Event Cerebrovascular Accident Cerebrovascular Stroke Cerebral Stroke Stroke is classified by the type of tissue necrosis, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. Stroke This measure is a physical assessment to determine neurological deficits due to a stroke. PX820800 Only label adapted This measure is used to describe the consequences of a stroke and to monitor the effects of treatment and recovery. Stroke Impact Measure This questionnaire includes 59 proxy- or self-report items in 8 domains that assess multidimensional stroke outcomes in adults. PX820701 yes PhenX protocol: Stroke Impact Scale (SIS) - Adults #820701 Self; Proxy Adults who have had a stroke, ages 18 and older. Danish, Dutch, French, German, Greek, Hebrew, Italian, Japanese, Norwegian, Portuguese, Russian, Spanish, Swedish, Tagalog, Thai, Turkish 18 and older yes Items 1(a-d) measure strength. Items 2(a-g) measure memory and thinking. Items 3(a-I) measure emotions. Items 4(a-g) measure ease or difficulty of communication. Items 5(a-j) measure activities of daily living/instrumental activities of daily living (ADL/IADL). Items 6(a-I) measure mobility. Items 7(a-e) measure hand function. Items 8(a-h) measure participation/role function. Item responses are scored on a 5-point Likert-style scale. A score of 1 = an inability to complete the item and a score of 5 = no difficulty experienced at all. A standardized score ranging from 0 to 100 is calculated for all domains, with higher scores indicating a higher quality of life. An extra question on stroke recovery asks that the client rate on a scale from 0 to 100 how much the client feels that he/she has recovered from his/her stroke, where 0 = "no recovery" and 100 = "full recovery." The Stroke Impact Scale (SIS) should be used with caution in individuals with mild impairment as the items in the Communication, Memory, and Emotion domains are considered easy and only capture limitations in the most impaired individuals. Stroke Impact Scale (SIS) A clinical test to measure the blood flow velocities in intracranial arteries. Elevated intracranial arterial blood flow rates are indicative of expanding vessel lesions and a subsequent increased risk of stroke. Include below "Cerebral Flow Test"? Include below "Vascular Endothelial Function Test"? PX821000 Only label adapted PhenX protocol: Stroke Risk in Children with Sickle Cell Disease - TCD #821001 PhenX protocol: Stroke Risk in Children with Sickle Cell Disease - TCDi #821002 Children and adolescents aged 2 years and older with hemoglobin SS or beta-zero thalassemia disease and without a history of clinical stroke. This measure is used to stratify stroke risk in children to determine eligibility for prophylactic blood transfusion for stroke prevention. Stroke Risk in Children with Sickle Cell Disease Blood-flow velocities indicative of stroke risk can be obtained by either TCD or Imaging Transcranial Doppler (TCDi) ultrasonography. The choice of TCD or TCDi depends on the expertise and equipment available to investigators. Stroke Risk Test in Children with Sickle Cell Disease 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. no Experiment Design Experimental Design Research Design STYPE Study Type Study Design Specific key measurement(s) or observation(s) used to measure the effect of experimental variables on the subjects in a study, or for observational studies, to describe patterns of diseases or traits or associations with exposures, risk factors or treatment. The specific measure that receives the most emphasis in assessment. NCIT:C93407 no Study Outcome Measure Study Outcome Measurement The occurrence of multiple self-limited episodes of unwanted, often painful erections lasting <4 hours. Evidence-Based Management of Sickle Cell Disease, Expert Panel Report, 2014 Evidence-Based Management of Sickle Cell Disease, Expert Panel Report, 2014 yes Recurrent Priapism Stuttering priapism may lead to a major episode of greater than 4 hours’ duration and may adversely affect quality of life and lead to impotence. Treatment with chronic hormonal therapy, transfusion therapy, and other treatments may reduce or eliminate these episodes; however, there are no data demonstrating improvement in functional outcomes. Therefore, the decision to treat must be balanced against the side effects of interventions, which can include decreased libido. Stuttering Priapism Bleeding in the space that surrounds the brain, between the arachnoid mater and the pia mater. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. yes Symptoms of a subarachnoid hemorrhage include: Loss of consciousness, double vision, nausea and/or vomiting, Severe headache - the worst headache pain you've ever had that feels different from other headaches, Trouble speaking, drooping eyelid, confusion and difficulty concentrating, sensitivity to light, neck stiffness, seizures.Before a subarachnoid hemorrhage occurs, a large brain aneurysm that's started to push against nerves in the brain can cause symptoms, such as: pain surrounding the eye, changes in your vision, dilated pupils, weakness or numbness on one side of your body, loss of hearing or trouble with balance, seizures, difficulty with memory A subarachnoid hemorrhage is a medical emergency, and immediate treatment is essential to help reduce the risk for permanent brain damage. The main goal of treating a subarachnoid hemorrhage is to stop the bleeding. Often, a doctor may perform surgery to place a small clip on the blood vessel to stop blood from leaking into the brain. Alternatively, some types of aneurysms can be treated with an endovascular coil, either by a radiologist or neurosurgeon.  This requires making a tiny incision in your thigh and passing a thin catheter through the artery in your leg up to the artery in your head that is bleeding. Recovery times from this type of treatment are much shorter than traditional surgery; however, not all aneurysms can be treated this way. Your doctor can determine if you are a candidate for this treatment after performing your angiogram. Part of the long-term treatment of a subarachnoid hemorrhage also involves addressing any risk factors that may have helped trigger the hemorrhage. This may mean quitting smoking if you're a smoker, gaining better control of your diabetes, lowering cholesterol and blood pressure, maintaining a healthy body weight, and eating a balanced diet. Diagnosis is made by: CT scan or MRI scan to examine the brain tissue, Angiogram to evaluate the blood vessels in the brain, Spinal tap to analyze the cerebrospinal fluid for the presence of blood. Subarachnoid Hemorrhage Substance Use History Record of whether or not the respondent has ever used a drug during his or her entire life. PX31100 yes PhenX protocol: Substances - Lifetime Use #031101 This measure can be used to assess the participant's lifetime use of any drug. The question is often used as a prelude to more detailed questions about substance use to screen out individuals who have ever used these substances. Substances - Lifetime Use Thinking about, considering, or planning to kill oneself. yes Suicidal Ideation Suicide Suicidal Thoughts Organizations which provide an environment encouraging social interactions through group activities or individual relationships especially for the purpose of rehabilitating or supporting patients, individuals with common health problems, or the elderly. They include therapeutic social clubs. MESH:D012657 no Self Help Group Self-Help Group Therapeutic Social Club Support Group Measures aimed at providing appropriate supportive and rehabilitative services to minimize morbidity and maximize quality of life after a long-term disease or injury is present. MESH:D055512 no Supportive Therapy Tertiary Prevention Supportive Therapeutics A computerized test for the assessment of visual attention problems in individuals ages 8 years old and older. Conners CPT 3 PX821200 Label and description adapted PhenX protocol: Sustained and Selective Attention #821201 Self Deficits in attention are associated with some psychiatric conditions, (e.g., Attention-Deficit/Hyperactive Disorder-ADHD), genetic diseases (e.g., sickle cell disease), and can be a consequence of stroke. Ages 8 and older The Conners Continuous Performance Test 3rd Edition (Conners CPT 3) is a proprietary instrument and administration requires a license from Multi-Health Systems, Inc. This is a proprietary instrument and administration requires a license from Multi-Health Systems, Inc. Conners CPT 3 Conners Continuous Performance Test 3rd Edition Conners Continuous Performance Test 3rd Edition (Conners CPT 3) Respondents press the spacebar (or click the mouse) when any letter of the alphabet (except "X") appears on the screen. Commission errors occur when the spacebar is pressed when an "X" is presented. Omission errors occur when the spacebar is not pressed when a letter besides "X" is presented on the screen. Reaction time is the interval between the appearance of the letter on the screen and the response, e.g., pressing the spacebar. The Conners CPT 3™ uses both standardized and raw scores to measure overall visual attention as well as specific aspects of attention in the areas of inattentiveness, impulsivity, sustained attention and vigilance. Sustained and Selective Attention Measure Therapeutics that ease the symptoms without addressing the basic cause of the disease. yes Symptomatic Treatment Symptomatic Therapeutics Affecting a number of tissues relating to the entire organism as distinguished from and of its individual parts. yes Systemic A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. HP:0002725 no Severe fatigue, joint pain, joint swelling, headaches, a rash on the cheeks and nose, which is called a "butterfly rash", hair loss, anemia, blood-clotting problems, fingers turning white or blue and tingling when cold. Systemic Lupus Erythematosus Tandem mass spectrometry is a data transformation that uses two or more analyzers separated by a region in which ions can be induced to fragment by transfer of energy (frequently by collision with other molecules). MS/MS MS/MS Tandem Mass Spectrometry Care of a highly technical and specialized nature, provided in a medical center, usually one affiliated with a university, for patients with unusually severe, complex, or uncommon health problems. MESH:D063128 no Tertiary Care Tertiary Health Care Tertiary Healthcare The Test of Functional Health Literacy Assessment (TOFHLA) assesses a patient’s level of comprehension of health-related material. It is available in a full-format (a 22-minute test, with 50 reading comprehension items in three passages and 17 numeracy items), an abbreviated format (a 12-minute test, with 36 reading comprehension items in two passages and four numeracy items) and a shortened version (the S-TOFHLA, a 7-minute test, with 36 reading comprehension items in 2 passages.). The passages on the S-TOFHLA use a modified Cloze procedure where every fifth to seventh word is omitted and subjects select the correct word from among a set of four options. The passages contain information about an upper gastrointestinal tract x-ray procedure, and the “Rights and Responsibilities” section from a Medicaid application, and have Gunning-Fox readability indices of fourth and tenth grade, respectively. In early developmental studies, the reading comprehension passages in the S-TOFHLA had a reliability coefficient (Cronbach’s alpha) of 0.97 and correlation with the Rapid Estimate of Adult Literacy in Medicine (REALM) of 0.81. Each selection is scored a “1” for correct or a “0” for incorrect and scores are summed over items to create a total score. The 36-point scale of the S-TOFHLA is divided into three categories of functional literacy: inadequate (0-16), adequate (17-22) and functional (23-36). Parker RM, Baker DW, Williams MV, Nurss JR. The test of functional health literacy in adults: a new instrument for measuring patients' literacy skills. Journal of General Internal Medicine. 1995;10(10):537-41. TOFHLA Check and show which source was used for the description and whether the description was adapted from the source. Also these properties: has respondents has target population selection criteria met validated for age ranges has cross-cultural adaptation freely available Spanish TOFHLA Test of Functional Health Literacy in Adults Test of Functional Health Literacy in Adults (TOFHLA) 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. NCIT:C35069 no Some hemoglobinopathies are also thalassemias, but most are not. Hemoglobinopathies imply structural abnormalities in the globin proteins themselves. Thalassemias, in contrast, usually result in underproduction of normal globin proteins, often through mutations in regulatory genes. ("Hemoglobinopathy", Wikipedia, 01/2017) Thalassemia The Duke Religion Index (DUREL) is a five item scale which measures religiosity in three areas: organizational religiosity (OR), non-organizational religiosity (NOR), and intrinsic religiosity. Two of the questions were derived from large epidemiologic studies and have been shown to have a strong predictive value for many health outcomes. OR has been related to less depression, more social support, better physical health, lower resource utilization, and lower mortality. NOR has been shown to be related to poorer physical health, and greater social support. The other three items were taken from the Hoge 10- item religiosity scale (Hodge et al 1972). The DUREL has high test-retest reliability (intra-class correlation = 0.91), high internal consistency (Cronbach’s alpha’s = 0.78–0.91). Koenig, HG and Büssing A. (2010). The Duke University Religion Index (DUREL): A Five-Item Measure for Use in Epidemological Studies. Religions, 1, 78-85. DUREL Check and show which source was used for the description and whether the description was adapted from the source. Also these properties: has cross-cultural adaptation has translations Self Adults with SCD Used in at least one SCD study Adults no DUREL The Duke Religion Index The Duke Religion Index (DUREL) SCDO A medical device used to prevent and treat medical conditions, or to alleviate pain or injury. This term is in the "Read Clinical Terminology Version 2". Therapeutic Device The washing of a body cavity or surface by flowing water or solution for therapy or diagnosis. MESH:D007507 no Lavage Lavages Therapeutic Irrigations Douching Douchings Therapeutic Irrigation The treatment and care of a patient for the purpose of both preventing and combating disease or alleviating pain or injury. "Chemotherapy" to be added in this class? If so, would have to be specific types of chemotherapy relevant to the type of therapeutics class. Include as subclasses: Prosthesis Phototherapy (therapy for Jaundice) Risk Reduction? Copy relevant disease modifiers below this. yes Therapy Treatment Therapeutics Ending the tobacco habits of smoking, chewing, or snuff use. MESH:D020340 no Tobacco Cessation Tobacco Use Cessation The total number of leukocytes in 1 cubic millimeter of peripheral venous blood. CMO:0000365 no Total White Blood Cell Count A person who practices the art of healing using traditional medicine, a systems of medicine based on cultural beliefs and practices handed down from generation to generation. The concept includes mystical and magical rituals (spiritual therapies); phytotherapy (plant therapy) and other treatments which may not be explained by modern medicine. yes Folk Medicine Folk Remedies Folk Remedy Home Remedies Home Remedy Indigenous Medicine Medicine, Folk Medicine, Indigenous Medicine, Primitive Primitive Medicine Remedies, Folk Remedies, Home Remedy, Folk Remedy, Home Traditional Medicine Folk Healer Healer Sangoma Shaman Traditional Healer An interviewer-administered, two-part test that requires the respondent to organize numerical and alphabetical sequences that are randomly distributed on a piece of paper. The protocol includes instructions for correcting mistakes and instructions for scoring based on speed and accuracy. PX131101 no PhenX protocol: Executive Function #131101 Self 15 years and older The Trail Making Test is a proprietary, fee-based instrument that is available from Reitan Neuropsychology Lab, Inc. Whereas the Trail Making Test has two parts (Parts A and B), the PhenX Neurology Working Group recommends that part B be used to measure executive function in adults. Trail Making Test A non-invasive technique using ultrasound for the measurement of cerebrovascular hemodynamics, particularly cerebral blood flow velocity and cerebral collateral flow. With a high-intensity, low-frequency pulse probe, the intracranial arteries may be studied transtemporally, transorbitally, or from below the foramen magnum. TCD D017585 no To measure: cerebral blood flow velocity or cerebral collateral flow. TCD Transcranial Doppler Ultrasonography, Doppler, Transcranial This technique is also used to treat ischemic stroke. Transcranial Doppler Ultrasonography The use of specifically placed small electrodes to deliver electrical impulses across the skin to relieve pain. It is used less frequently to produce anesthesia. Wang, W. C., S. L. George, and J. A. Wilimas. "Transcutaneous electrical nerve stimulation treatment of sickle cell pain crises." Acta haematologica 80.2 (1988): 99-102. TENS Not sure which dc:source to have (will decide later). MESH:D004561 no Percutaneous Electrical Nerve Stimulation TENS Transcutaneous Electrical Nerve Stimulation Temporary loss of vision in one eye due to a lack of blood flow to the retina. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. Include this term below "Eye". yes Occurs when a blood clot or a piece of plaque blocks an artery in the eye. The blood clot or plaque usually travels from a larger artery, such as the carotid artery in the neck or an artery in the heart, to an artery in the eye. Plaque is a hard substance that forms when fat, cholesterol, and other substances build up in the walls of arteries. Risk factors include: Heart disease, especially irregular heartbeat; Alcohol abuse; Cocaine use; Diabetes; Family history of stroke; High blood pressure; High cholesterol; Increasing age; Smoking (people who smoke one pack a day double their risk of a stroke). Symptoms include the sudden loss of vision in one eye. This usually lasts for a few seconds to several minutes. Afterwards, vision returns to normal. Some patients describe the loss of vision as a gray or black shade coming down over their eye.If the blockage continues, vision loss may be followed by more serious nervous system symptoms. These symptoms can be similar to those of a stroke, including weakness or speech problems. Amaurosis Fugax Temporary Blindness Transient Monocular Blindness Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD). HP:0003126 no Low-Molecular-Weight Proteinuria Glomerular Proteinuria Tubular Proteinuria Work consisting of reporting using a method of detecting genetic causes in human traits and genetic factors in behavior using sets of twins. MESH:D018486 no Twin Study Methods of detecting genetic etiology in human traits. The basic premise of twin studies is that monozygotic twins, being formed by the division of a single fertilized ovum, carry identical genes, while dizygotic twins, being formed by the fertilization of two ova by two different spermatozoa, are genetically no more similar than two siblings born after separate pregnancies. (Last, J.M., A Dictionary of Epidemiology, 2d ed) MESH:D018433 Twin Studies as Topic This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. UGT1A1 yes Official Full Name: UDP glucuronosyltransferase 1 family, polypeptide A1; Gene ID: 54658; Chromosome: 2; Position: 233760273..233773299 (GRCh38.p2); Variants UDP Glucuronosyltransferase 1 Family, Polypeptide A1 UGT1A1 A device that is used to visualize subcutaneous body structures including tendons, muscles, joints, vessels and internal organs. OBI:0001098 no Ultrasound Machine An urban area is the region surrounding a city. Most inhabitants of urban areas have nonagricultural jobs. Urban areas are very developed, meaning there is a density of human structures such as houses, commercial buildings, roads, bridges, and railways. Copied this below "Geographic Location" under "Disease Modifiers". no Urban Area Urban Setting Urban Location A bioassay to measure urine concentration of albumin, which is produced by the liver and is the most abundant protein in the blood. PX141500 Only label adapted PhenX protocol: Urinary Microalbumin Assay #141501 The Sickle Cell Disease Research and Scientific Panel notes that the terms "microalbuminuria" and "macroalbuminuria" have been used clinically to describe different levels of abnormal albumin excretion rate: 30-299 mg/g urine creatinine, and >300 mg/gr urine creatinine, for microalbuminuria and macroalbuminuria, respectively. Recently, a new terminology has been proposed: "low level albuminuria" instead of microalbuminuia, and "high level albuminuria" for macroalbuminuria, since the older terminology could be interpreted as measuring different molecular forms of albumin. Because albuminuria may be affected by non-pathological factors (exercise, menstruation contamination, biological variability, etc.), abnormal values should be confirmed within 1-2 months. With the protocol provided, albumin concentration is measured according to a fluorescent immunoassay (FIA). The protocol also lists reference ranges for healthy adults. Urinary Albumin Test A bioassay to measure urine concentration of creatinine, a muscle metabolite that is filtered out of blood by the kidneys. no PhenX protocol: Urinary Creatinine Assay #141601 The urinary creatinine measure should be done in conjunction with urinary microalbumin to determine the ratio of urine albumin to urine creatinine, which can predict the risk of nephropathy. The PhenX protocol provides basic instructions for collecting and processing urine according to National Health and Nutrition Examination Survey (NHANES) methods. Creatinine concentration in a participant’s morning urine sample is measured according to the Jaffe rate method. The protocol also lists reference ranges for healthy adults. Urinary Creatinine Test The determination of the amount of protein present in a urine sample. C74760 no Used to diagnose a proteinuria phenotype. Can be determined using a number of methods including turbidimetric, electrophoresis and dipstick. Urinary Protein Measurement The organs and passageways concerned with the production and excretion of urine, including the kidneys, ureters, urinary bladder, and urethra. BTO:0003092 no Urinary System SCDO The concentration of albumin in the urine. Because albuminuria may be affected by non-pathological factors (exercise, menstruation contamination, biological variability, etc.), abnormal values should be confirmed within 1-2 months. Urine Albumin Concentration The amount of albumin excreted into the urine within a specified period of time. If the level of albumin in the urine is above normal but not high enough to be detectable with routine protein testing it is referred to as "microalbumin". CMO:0000757 no Urinary albumin is measured as an indicator for kidney malfunctions such as diabetic nephropathy. Urinary Albumin Excretion Rate Urine Albumin Excretion Rate Comparison of urine microalbumin, that is, a level of albumin in the urine which is above normal but not detectable with routine protein testing, to amount of creatinine in a specified volume of urine. Often expressed as microalbumin concentration divided by creatinine concentration times 1000 mg per gram. ALBCREAT CMO:0000384 no ACR ALBCREAT Albumin To Creatinine Protein Ratio Measurement Albumin/Creatinine Microalbumin/Creatinine Ratio Urine Microalbumin-Creatinine Ratio The ratio of urine albumin to urine creatinine, is used to predict the risk of nephropathy (National Health and Nutrition Examination Survey and University of Minnesota Laboratory Procedure Manual for Urinary Creatinine, 2008). Urine Albumin-Creatinine Ratio The concentration of creatinine in the urine. yes Urine Creatinine Concentration Any measurement of urine, the fluid waste product excreted by the kidneys, or its components. CMO:0000256 no Urine Measurement A method in which sulfosalicylic acid (that is, the SSA reagent) is added to a small and equal volume of clear urine. The acidification causes precipitation of protein in the sample (seen as increasing turbidity), which can be subjectively quantitated visually or more precisely quantitated using photometry. MMO:0000504 no SSA Protein Precipitation Test Urine SSA Turbidimetry Urine Sulfosalicylic Acid Turbidimetry Urine Turbidimetry with Sulfosalicylic Acid Urine Protein Sulfosalicylic Acid Precipitation Test Urinalysis Urine Analysis Urine Test The medical specialty concerned with the study, diagnosis, and treatment of diseases of the genitourinary tract. C17243 no Urologic Urologic Diseases Urology Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. Mediscape: Urticaria Clinical presentation: Author: Henry K Wong, MD, PhD; Chief Editor: Dirk M Elston, MD. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0001025 no Infections, allergens, drugs, exercise, pregnancy, autoimmune disease, skin eposure to undue pressure. Hives, mucous membrane swelling; lips tongue, throat, horse voice. Hives Urticaria A vaccine is a processed material with the function that when administered, it prevents or ameliorates a disorder in a target organism by inducing or modifying adaptive immune responses specific to the antigens in the vaccine. VO:0000001 no Vaccine Works consisting of research using processes by which the reliability and relevance of a procedure for a specific purpose are established. MESH:D023361 no Validation Studies The act of inhaling and exhaling vapors produced from electronic cigarettes. MESH:D000072137 no Electronic Cigarrete Use Vaping A measure of vascular endothelial cell response to stimulation—for example, by vasoactive substances released by or those that interact with the vascular endothelium. yes Assessment of Endothelial Cell Function Endothelium Dysfunction Test Vascular Endothelial Function Test Pain resulting from tissue ischemia as a result of blockage of blood vessels, occurring in a variety of vascular beds, but most commonly in the bone or bone marrow and requiring analgesic medication. Evidence-Based Management of Sickle Cell Disease: Expert Panel Report (EPR), 2014 no Acute Pain Crisis Sickle Crisis VOC Vaso-Occlusive Crisis Vaso-Occlusive Episodes Vaso-Occlusive Crisis Extraction of blood from a vein using a needle. In human, the basilic, cephalic and median cubital veins are most commonly used as well as the femoral vein. MMO:0000090 no Venipuncture 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. Provide source for additional info. HP:0001714 no Often people feel restless and agitated during an attack because the pain is so intense, and may react by rocking, pacing or banging their head against the wall.They commonly also have at least one of the following associated symptoms: a red and watering eye; drooping and swelling of one eyelid; a smaller pupil in one eye; a sweaty face; a blocked or runny nostril; a red ear. These attacks generally last between 15 minutes and three hours, and typically occur between one and eight times a day. Cluster headache bouts may occur every year over many years and may be lifelong. In general, they become less frequent over time. Ventricular Hypertrophy A parent or caregiver questionnaire administered as part of a structured interview that measures day-to-day performance on communication, daily living, socialization, and motor skills. Standard scores can be derived for communication, daily living, socialization, and motor skills subtests or combined to create an Adaptive Behavior Composite (ABC). Vineland-II Should this also/rather be included below QoL? yes PhenX protocol: Adaptive Behavior/Adaptive Function #820601 Proxy This measure can be used to identify individuals with developmental disabilities or delays, perform diagnostic evaluations, monitor progress, and develop programs. All ages from birth through age 90 This is a proprietary protocol and administration requires a license from Pearson, Inc. Adaptive Behavior Adaptive Function Vineland-II This is considered to be the gold standard for identifying developmental delays. It is a parent- or proxy-structured interview and can be used to assess the function of participants of any age. Vineland Adaptive Behavior Scales, Second Edition (Vineland-II) Any disease caused by a virus. Remove if subclasses not added below this. Perhaps use as Disease Modifier? C3439 no Viral Disease Virus Disease Viral Infection Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells. MESH:D014780 Only label adapted Viruses Virus Removal of the whole or part of the vitreous body in treating endophthalmitis, diabetic retinopathy, retinal detachment, intraocular foreign bodies, and some types of glaucoma. MESH:D014821 no Vitrectomy Bleeding into the vitreous cavity caused by mechanical stress (from trauma or normal vitreous movement) on the delicate neovascular fronds growing from the retina into the vitreous chamber. Bonanomi et al 2013 Arq Bras Oftalmol, Ballas et al 2010 Am J Hematol. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. UBERON:0001797 yes Often a complication of sickle retinopathy Temporary or permanent blindness. Hemorrage Within the Vitreous Humor. Vitreous Hemorrhage Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes. Can this term also be below "Immunological Assay"? D015153 no Western Immunoblot Western Blot An acute onset of wheezing in a persons with SCD and co-morbid asthma. Knight-Madden et al 2014 Ped Resp Rev; Glassberg et al 2014 Curr Opin Pediatr. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. yes Synergistic inflammatory response due to both SCD and asthma. Increased severity of episodes. Asthma Attack Wheezing Episode with Co-Morbid Asthma The number of white blood cells in a specified volume of blood. CMO:0000027 no Leukocyte Count White Corpuscle Count White Blood Cell Count 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. CMO:0002341 no White Blood Cell Measurement Morphological measurement involving the entire body of an organism. CMO:0000011 no Whole Body Morphological Measurement An act of employing sorcery (the use of power gained from the assistance or control of spirits), especially with malevolent intent, and the exercise of supernatural powers and alleged intercourse with the devil or a familiar. (From Webster, 3rd Ed). MESH:D018599 no Witchcraft The WHOQOL is a quality of life assessment developed by the WHOQOL Group with fifteen international field centres, simultaneously, in an attempt to develop a quality of life assessment that would be applicable cross-culturally. WHOQOL Group (1993). Measuring quality of life: The development of the World Health Organisation quality of life instrument (WHOQOL). Geneva: WHO. WHOQOL Check and show which source was used for the description and whether the description was adapted from the source. Also these properties: validated for age ranges has cross-cultural adaptation freely available has translations Self Healthy people; Clinic patients Demonstrated validity with SCD populations; at least two publications using the measure WHOQOL World Health Organisation Quality of Life Instrument World Health Organisation Quality of Life Instrument (WHOQOL) The visual output that an X-ray machine produces. Should this rather be below "Diagnostic Device"? X-Ray Image The visual output that an X-ray machine produces when imaging the chest. X-Ray Image of Chest A device that is used to generate X-rays. A-2C500 OBI:0001138 Only label adapted X-Ray Source Radiographic unit X-Ray Machine Medical treatment involving the use of controlled amounts of X-Rays. Include source of synonyms (dc:source). MESH:D014964 no Actinotherapy Irradiation Radiation Radiation Therapy Radiotherapy X-ray Beam Therapy Combined Photon Therapy. Combined X-Ray Therapy Deep X-Ray Therapy 150-400 kV. High Dose Rate Electronic Brachytherapy High-Energy Beam Therapy Intracavitary X-ray Therapy Palliative Course of Deep X-Ray Therapy Postoperative Course of Deep X-Ray Therapy Preoperative Course of Deep X-Ray Therapy. Short Distance X-Ray Therapy Ultrahard X-Rays 400-2000 kV X-Ray Therapy Penetrating, high-energy electromagnetic radiation emitted when the inner orbital electrons of an atom are excited and release radiant energy. X-ray wavelengths range from 1 pm to 10 nm. Hard X-rays are the higher energy, shorter wavelength X-rays. Soft x-rays or Grenz rays are less energetic and longer in wavelength. The short wavelength end of the X-ray spectrum overlaps the gamma rays wavelength range. The distinction between gamma rays and X-rays is based on their radiation source. This should probably be removed. C17262 D014965 yes In high doses, x-rays are used to treat cancer. In low doses, x-rays are used to diagnose diseases by making pictures of the inside of the body. X-Radiation X-Ray Electromagnetic Radiation Grenz Rays Range: 1 pm - 10 nm X-Rays 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. DB06694 no Balminil Xylomethazoline Xylometazoline The EQ-5D is a widely-used generic instrument for describing health-related quality of life states in five dimensions scored from 1 to 3 or 1 to 5, and a visual analogue scale to record self-rated health state from 0 to100. These provide a simple descriptive profile and a single index value for health status. The EQ-5D can also be used to calculate health utilities and determine the quality-adjusted life years associated with a health state. There is also a youth version (EQ-5D-Y). Anie KA, Grocott H, White L, Dzingina M, Rogers G, Cho G (2012). Patient self-assessment of hospital pain, mood and health-related quality of life in adults with sickle cell disease. BMJ Open, 2, e001274. doi:10.1136/bmjopen-2012-001274. Howard, J, Malfroy, M, Llewelyn, C et al. The Transfusion Alternatives Preoperatively in Sickle Cell Disease (TAPS) study: a randomised, controlled, multicentre clinical trial. Lancet. 2013; 381(9870):930–938. The EuroQol Group. EuroQol-a new facility for the measurement of health-related quality of life. Health Policy. 1990; 16(3):199-208. www.phenxtoolkit.org EQ-5D Check and show which source was used for the description and whether the description was adapted from the source. Multiple countries and cultural groups Self Healthy People; Clinic Patients Widely used around the world, also used in SCD Adults and Youth (8 to 18 years) EQ-5D EuroQol Five Dimensions Questionnaire EuroQol Five Dimensions Questionnaire (EQ-5D) The FACIT-Sp is a 12-item measure that asks participants to indicate how true various statements are about them on a Likert scale of 0 (‘‘not at all’’) to 4 (‘‘very much’’). Responses on the FACIT-Sp are summed to create a total score, ranging from 0 to 48, with higher scores representing higher levels of spirituality. Peterman AH, Fitchett G, Brady MJ, et al. Measuring spiritual well-being in people with cancer: the functional assessment of chronic illness therapy—Spiritual Well-being Scale (FACIT- Sp). Ann Behav Med. 2002;24:49–58. FACIT-Sp Scale Check and show which source was used for the description and whether the description was adapted from the source. Self; Proxy (Parent report) Children with SCD and their parents Demonstrated validity in SCD studies. Children and adults FACIT-Sp Scale Functional Assessment of Chronic Illness Therapy-Spirituality Scale Functional Assessment of Chronic Illness Therapy-Spirituality (FACIT-Sp) Scale The application of modern theories of learning and conditioning in the treatment of behavior disorders. MESH:D001521 no Behavior Modification Behavior Modifications Behavior Therapies Conditioning Therapies Conditioning Therapy Behavior Therapy A primary headache disorder that is characterized by severe, strictly unilateral pain which is orbital, supraorbital, temporal or in any combination of these sites, lasting 15-180 min. occurring 1 to 8 times a day. The attacks are associated with one or more of the following, all of which are ipsilateral: conjunctival injection, lacrimation, nasal congestion, rhinorrhea, facial sweating, eyelid edema, and miosis. Include below "Pain"? MESH:D003027 no They're estimated to affect around 1 in 500-1,000 people. Anyone of any age can be affected, but they're more common in men and tend to develop in people over the age of 20. It's not clear exactly what causes cluster headaches, but they've been linked to activity in part of the brain called the hypothalamus. People who smoke seem to be at a higher risk. Some cases also appear to run in families, which suggests there may be a genetic link. Cluster headaches begin suddenly and without warning. The pain is very severe and is often described as a sharp, burning or piercing sensation on one side of the head. The pain is typically felt around the eye, temple and sometimes face, and typically recurs on the same side for each attack. Cluster Headaches Cluster headaches aren't life threatening, but they can cause significant suffering and severely affect your quality of life, so it's important to see someone who is familiar with the known effective treatments for the condition. The headaches can't be treated with over-the-counter painkillers such as paracetamol, as these are too slow to take effect. You'll need to have one or more specialist treatments instead. Cluster Headache D57.00 D57.00 Hemoglobin S sickling disorder with crisis D57.00 Hb-SS disease with crisis, unspecified When a child does not reach their developmental milestones at the expected times. It is an ongoing major or minor delay in the process of development. Provide source for additional info. yes 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. Developmental Delay An instrument used in the detection and diagnosis of heart abnormalities that measures electrical potentials on the body surface and generates a record of the electrical currents associated with heart muscle activity. no Cardiograph Electrocardiographic Instrument Electrocardiograph Electrocardiographic Device The transfer of erythrocytes from a donor to a recipient or reinfusion to the donor. MESH:D017707 no Transfusion Erythrocyte Transfusions Red Blood Cell Transfusion Red Blood Cell Transfusions Transfusion, Erythrocyte Transfusions, Erythrocyte Erythrocyte Transfusion 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. Different relevant ethnic groups need to be recorded. Perhaps as sub-classes of this class? NCIT:C16564 no Ethnicity is used to stratify study populations and to associate those populations with physical, geographic, biological, social, and cultural characteristics (e.g., Dominican). Ethnicity is a social and epidemiological factor, and individuals of some ethnicity are at greater risk for disease. By capturing the ethnicity of respondents, the researcher will be able to identify those who are or are not of a certain origin and will be able to stratify the study population accordingly. Ethnic Origin Ethnic Origins Ethnicity Ethnic Group Works consisting of studies determining the effectiveness or utility of processes, personnel, and equipment. MESH:D023362 no Evaluation Studies Repetitive withdrawal of small amounts of blood and replacement with donor blood until a large proportion of the blood volume has been exchanged. Used in treatment of fetal erythroblastosis, hepatic coma, sickle cell anemia, disseminated intravascular coagulation, septicemia, burns, thrombotic thrombopenic purpura, and fulminant malaria. MESH:D005078 no Exchange Blood Transfusion Exchange Transfusion, Whole Blood An interviewer-administered test to measure a respondent’s system of high-level cognitive functions such as abstract thinking, rule acquisition, cognitive flexibility, and goal-oriented behavior. PX131100 Only label adapted This measure tests a respondent's total range of function with respect to executive function. It is therefore more specific and sensitive than a measure of global mental status and can be used to assess major problems in executive function as well as minor variations that may be a consequence of normal aging. Executive Function Measure Physical activity which is usually regular and done with the intention of improving or maintaining physical fitness or health. MESH:D015444 yes Exercise Rhabdomyolysis Induced by Exercise. Provide source for additional info. HP:0009045 no. Strenuous exercise performed under high temperatures and humidity; poor hydration levels before, during and after the exercise. Muscle pain, vomiting, confusion, acute renal failure. Rhabdomyolysis with Exercise Exercise-Induced Rhabdomyolysis 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). Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0002071 no Extrapyramidal symptoms are caused by dopamine blockade or depletion in the basal ganglia; this lack of dopamine often mimics idiopathic pathologies of the extrapyramidal system Extrapyramidal symptoms include acute dyskinesias and dystonic reactions, tardive dyskinesia, Parkinsonism, akinesia, akathisia, and neuroleptic malignant syndrome Abnormality of Extrapyramidal Motor Function Extrapyramidal Dysfunction Extrapyramidal Signs Extrapyramidal Syndrome Extrapyramidal Tract Signs Diagnosis is made using the following: CT and MRI of the head, Genetic testing, Magnetic resonance angiography to look at the blood vessels in the neck and brain, Positron emission tomography (PET) to look at the metabolism of the brain, Blood tests to check blood sugar, thyroid function, liver function, and iron and copper levels. Extrapyramidal Symptoms The organ of vision that consists of the eyeball and the optic nerve. yes Oculus Ophthalmic Eye Eye Examination An abnormal morphology (form) of the face or its components. Provide source for additional info. HP:0001999 Only label adapted Genetic syndromes, fetal alcohol syndrome, hemolytic anemias. Malformation of Face Abnormal Morphology of the Face Abnormal facial shape Dysmorphic Facial Features Unusual Facial Appearance Facial Dysmorphism Facial Dysmorphisms 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. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. HP:0010628 no Facial paralysis is almost always caused by: Damage or swelling of the facial nerve, which carries signals from the brain to the muscles of the face. Damage to the area of the brain that sends signals to the muscles of the face . In people who are otherwise healthy, facial paralysis is often due to Bell palsy. This is a condition in which the facial nerve becomes inflamed.Stroke may cause facial paralysis. With a stroke, other muscles on one side of the body may also be involved.Facial paralysis that is due to a brain tumor usually develops slowly. Symptoms can include headaches, seizures, or hearing loss.In newborns, facial paralysis may be caused by trauma during birth. Other causes include: Infection of the brain or surrounding tissues; Lyme disease; Sarcoidosis; Tumor that presses on the facial nerve Bell's Palsy Facial Nerve Paralysis Facial Palsy Facial Muscle Weakness Facial Nerve Palsy Facial paralysis is loss of facial movement because of nerve damage Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. yes According to the National Institute of Neurological Disorders and Stroke, Bell's palsy is the most common form of facial paralysis. Every year, 40,000 Americans experience sudden facial paralysis due to Bell's palsy. This condition causes the muscles on one side of the face to droop noticeably.No one knows exactly why Bell's palsy occurs. It may be related to a viral infection of the facial nerve. The good news is that most patients with Bell's palsy recover completely in about six months. Other causes of facial paralysis or weakness include: skull fracture or injury to the face;head or neck tumor; stroke; chronic middle ear infection or other ear damage; high blood pressure;diabetes;Lyme disease, a bacterial disease transmitted to humans by a tick bite; Ramsay-Hunt Syndrome, a viral infection of the facial nerve; autoimmune diseases such as multiple sclerosis, which affects the brain and spinal cord, and Guillain-Barre syndrome, which affects the nervous system. Birth can cause temporary facial paralysis in some babies. However, 90 percent of babies with this type of injury recover completely without treatment. You can also have facial paralysis at birth due to certain congenital syndromes, such as Moebius syndrome and Melkersson-Rosenthal syndrome. Facial Paralysis Inability to function due to tiredness related to sickle cell disease. Use the literature cited here to link to other phenotypes. MP:0002899 SYMP:0019177 yes Fatigability Fatigable Lassitude Tiredness Fatigue Studies to determine the advantages or disadvantages, practicability, or capability of accomplishing a projected plan, study, or project. Feasibility Studies A potent narcotic analgesic, abuse of which leads to habituation or addiction. It is primarily a mu-opioid agonist. Fentanyl is also used as an adjunct to general anesthetics, and as an anesthetic for induction and maintenance. Were these specific synonyms selected form the long list in the description source because of specific relevance to SCD? DB00813 no N-phenyl-N-[1-(2-phenylethyl)piperidin-4-yl]propanamide 1-phenethyl-4-N-propionylanilinopiperidine Fentanila N-(1-phenethyl-4-piperidinyl)-N-phenylpropionamide N-(1-phenethyl-4-piperidyl)propionanilide N-phenethyl-4-(N-propionylanilino)piperidine N-phenyl-N-(1-(2-phenylethyl)-4-piperidinyl)propanamide Tentanylum Fentanyl A bioassay to measure the serum concentration of ferritin (i.e., iron). PX811300 no PhenX protocol: Serum or Plasma Ferritin #811301 The National Health and Nutrition Examination Survey (NHANES) 2009-2010 Laboratory Procedures Manual for serum/plasma ferritin testing provides comprehensive instructions for processing and storing blood samples to determine an individual’s serum ferritin level. Because there are many comparable assays and instruments for measuring ferritin, the protocol also provides basic guidelines to aid comparability among different studies. This measure can be used to evaluate an individual’s iron metabolism, which is important for determining the presence and severity of anemia, and the assessment of iron therapy. Additionally this measure is used to assess iron overload (accumulation of iron in the body), which is associated with hereditary hemochromatosis and with transfusion therapy for many clinical conditions including sickle cell disease, thalassemia, other rare anemias, Hodgkin’s disease, acute leukemia, hemochromatosis, and carcinomas of many tumor types. Ferritin Blood Test A measurement of ferritin level in serum as an indicator of iron metabolism. EFO:0004459 yes Ferritin Measurement 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. HP:0001371 no Contractures Flexion Contractures Flexion Contractures of Joints Joint Contracture Joint Contractures Flexion Contracture An instrument which is used to count and sort microscopic particles suspended in a buffer. This instrument consists of a flow cell, at least one lamp or laser, a variable number of emission detectors or photomultipliers, a system that converts analog signals to digital, and a computer to run the system and collect and analyze the data output. Not sure whether this can be classified as a "Medical Device". NPO:1769 no Flow Cytometer Flow cytometry uses the principles of light scattering and fluorescence from fluorochrome molecules to generate specific multi-parameter data from particles and cells in the size range of 0.5um to 40um diameter. no Flow Cytometry Visualization of a vascular system after intravenous injection of a fluorescein solution. The images may be photographed or televised. It is used especially in studying the retinal and uveal vasculature. MESH:D005451 no Fluorescein Angiography Localized disorder characterized by involuntary muscle contractions that cause slow repetitive movements or abnormal postures. Check and show which source was used for the description and whether the description was adapted from the source. Provide source for additional info. yes Early-onset dystonia often begins with symptoms in the limbs and may progress to involve other regions. Some symptoms tend to occur after periods of exertion and/or fluctuate over the course of the day. Adult-onset dystonia usually is located in one or adjacent parts of the body, most often involving the neck and/or facial muscles.  Acquired dystonia can affect other regions of the body. Dystonias often progress through various stages. Initially, dystonic movements may be intermittent and appear only during voluntary movements or stress. Later, individuals may show dystonic postures and movements while walking and ultimately even while they are relaxed. Dystonia can be associated with fixed postures and shortening of tendons. The dystonias can be divided into three groups: idiopathic, genetic, and acquired. Idiopathic dystonia refers to dystonia that does not have a clear cause. Many instances of dystonia are idiopathic. There are several genetic causes of dystonia. Some forms appear to be inherited in a dominant manner, which means only one parent who carries the defective gene is needed to pass the disorder to their child. Each child of a parent having the abnormal gene will have a 50 percent chance of carrying the defective gene. It is important to note the symptoms may vary widely in type and severity even among members of the same family. In some instances, persons who inherit the defective gene may not develop dystonia. Having one mutated gene appears to be sufficient to cause the chemical imbalances that may lead to dystonia, but other genetic or even environmental factors may play a role. Knowing the pattern of inheritance can help families understand the risk of passing dystonia along to future generations. Acquired dystonia, also called secondary dystonia, results from environmental or other damage to the brain, or from exposure to certain types of medications. Some causes of acquired dystonia include birth injury (including hypoxia, a lack of oxygen to the brain, and neonatal brain hemorrhage), certain infections, reactions to certain drugs, heavy metal or carbon monoxide poisoning, trauma, or stroke. Dystonia can be a symptom of other diseases, some of which may be hereditary. Acquired dystonia often plateaus and does not spread to other parts of the body. Dystonia that occurs as a result of medications often ceases if the medications are stopped quickly. The cause of dystonia is not known. Researchers believe that dystonia results from an abnormality in or damage to the basal ganglia or other brain regions that control movement. There may be abnormalities in the brain's ability to process a group of chemicals called neurotransmitters that help cells in the brain communicate with each other. There also may be abnormalities in the way the brain processes information and generates commands to move. In most cases, no abnormalities are visible using magnetic resonance imaging or other diagnostic imaging. Dystonia can affect many different parts of the body, and the symptoms are different depending upon the form of dystonia. Early symptoms may include a foot cramp or a tendency for one foot to turn or drag-either sporadically or after running or walking some distance-or a worsening in handwriting after writing several lines.  In other instances, the neck may turn or pull involuntarily, especially when the person is tired or under stress. Sometimes both eyes might blink rapidly and uncontrollably; other times, spasms will cause the eyes to close. Symptoms may also include tremor or difficulties speaking. In some cases, dystonia can affect only one specific action, while allowing others to occur unimpeded. For example, a musician may have dystonia when using her hand to play an instrument, but not when using the same hand to type. The initial symptoms can be very mild and may be noticeable only after prolonged exertion, stress, or fatigue. Over a period of time, the symptoms may become more noticeable or widespread; sometimes, however, there is little or no progression. Dystonia typically is not associated with problems thinking or understanding, but depression and anxiety may be present. Botulinum toxin.  Botulinum injections often are the most effective treatment for the focal dystonias.  Injections of small amounts of this chemical into affected muscles prevents muscle contractions and can provide temporary improvement in the abnormal postures and movements that characterize dystonia. First used to treat blepharospasm, such injections are now widely used for treating other focal dystonias. The toxin decreases muscle spasms by blocking release of the neurotransmitter acetylcholine, which normally causes muscles to contract.  The effect typically is seen a few days after the injections and can last for several months before the injections must be repeated.  The details of the treatment will vary among individuals.Medications.  Several classes of drugs that affect different neurotransmitters may be effective for various forms of dystonia. These medications are used “off-label”, meaning they are approved by the U.S. Food and Drug Administration to treat different disorders or conditions but have not been specifically approved to treat dystonia.  The response to drugs varies among individuals and even in the same person over time. These drugs include: Anticholinergic agents block the effects of the neurotransmitter acetylcholine. Drugs in this group include trihexyphenidyl and benztropine. Sometimes these medications can be sedating or cause difficulties with memory, especially at higher dosages and in older individuals.  These side effects can limit their usefulness.  Other side effects such as dry mouth and constipation can usually be managed with dietary changes or other medications. GABAergic agents are drugs that regulate the neurotransmitter GABA. These medications include the benzodiazepines such as diazepam, lorazepam, clonazepam, and baclofen. Drowsiness is their common side effect. Dopaminergic agents act on the dopamine system and the neurotransmitter dopamine, which helps control muscle movement. Some individuals may benefit from drugs that block the effects of dopamine, such as tetrabenazine.  Side effects (such as weight gain and involuntary and repetitive muscle movements) can restrict the use of these medications.  Dopa-responsive dystonia (DRD) is a specific form of dystonia that most commonly affects children, and often can be well managed with levodopa. Deep brain stimulation (DBS) may be recommended for some individuals with dystonia, especially when medications do not sufficiently alleviate symptoms or the side effects are too severe. DBS involves surgically implanting small electrodes that are connected to a pulse generator into specific brain regions that control movement.  Controlled amounts of electricity are sent into the exact region of the brain that generates the dystonic symptoms and interfere with and block the electrical signals that cause the symptoms. DBS should be conducted by an interdisciplinary team involving neurologists, neurosurgeons, psychiatrists, and neuropsychologists, as there is intensive follow-up and adjustments to optimize an individual’s DBS settings.Other surgeries aim to interrupt the pathways responsible for the abnormal movements at various levels of the nervous system. Some operations purposely damage small regions of the thalamus (thalamotomy), globus pallidus (pallidotomy), or other deep centers in the brain. Other surgeries include cutting nerves leading to the nerve roots deep in the neck close to the spinal cord (anterior cervical rhizotomy) or removing the nerves at the point they enter the contracting muscles (selective peripheral denervation).  Some patients report significant symptom reduction after surgery. Focal Dystonia A member of the vitamin B family that stimulates the hematopoietic system. It is present in the liver and kidney and is found in mushrooms, spinach, yeast, green leaves, and grasses (poaceae). Folic acid is used in the treatment and prevention of folate deficiencies and megaloblastic anemia. DB00158 no Mechanism of Action: Folic acid, as it is biochemically inactive, is converted to tetrahydrofolic acid and methyltetrahydrofolate by dihydrofolate reductase. These folic acid congeners are transported across cells by receptor-mediated endocytosis where they are needed to maintain normal erythropoiesis, synthesize purine and thymidylate nucleic acids, interconvert amino acids, methylate tRNA, and generate and use formate. Using vitamin B12 as a cofactor, folic acid can normalize high homocysteine levels by remethylation of homocysteine to methionine via methionine synthetase. Metabolism: Hepatic Pharmacodynamics: Folic acid, a water-soluble B-complex vitamin, is found in foods such as liver, kidneys, yeast, and leafy, green vegetables. Folic acid is used to diagnose folate deficiency and to treat topical sprue and megaloblastic and macrocytic anemias, hematologic complications resulting from a deficiency in folic acid. Route of Elimination: Folic Acid is metabolized in the liver to 7, 8-dihydrofolic acid and eventually to 5,6,7,8-tetrahydrofolic acid with the aid of reduced diphosphopyridine nucleotide (DPNH) and folate reductases. A majority of the metabolic products appeared in the urine after 6 hours; excretion was generally complete within 24 hours. Folic Acid is also excreted in the milk of lactating mothers. Toxicity: IPR-MUS LD50 85 mg/kg,IVN-GPG LD50 120 mg/kg, IVN-MUS LD50 239 mg/kg, IVN-RAT LD50 500 mg/kg, IVN-RBT LD50 410 mg/kg Folic Acid Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease. Follow-Up Studies from phenotype Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Provide source for additional info. HP:0002007 no Enlargement of the frontal bone, achondroplasia, acromegalia, congenital syphilis, Beta-thalassemia. Frontal Protruberance Skull Bossing Frontal Bossing A questionnaire to measure the health status of individuals who had a stroke. Should this also/rather be included below Diagnostics? PX820700 no This measure is used to assess multidimensional stroke outcomes in both clinical and research settings. Functionality After Stroke Measure The system concerned with the function and disorders of the gastrointestinal tract, including stomach, intestines, and associated organs including liver, pancreas and gall bladder. yes gastrointestinal tract Gastrointestinal System The respondent's self-conception of being male or female. PX10700 yes PhenX protocol: Gender #010701 Gender is one of the most basic variables captured in any biomedical or health-related research study. Differences in the prevalence and severity of a broad range of diseases, disorders, and conditions exist between the sexes. Gender and sex are often misunderstood, and although they are related there are distinct differences between the two characteristics. Biological sex is a characteristic of living things, and a classification of male or female is given based on the individual's reproductive organs and functions assigned by chromosomal complement. Gender is captured for sociological and epidemiological reasons. Gender Combined effects of genotypes and environmental factors together on phenotypic characteristics. MESH:D059647 no Gene-Environment Interaction 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 those below this term in the "National Cancer Institute Thesaurus" (NCIT) no Genome Encoded Entity Gene Product Application of genetic material (usually DNA) into cells in order to permanently correct an inherited disease or acquired disease. no DNA Therapy Gene Transfer Gene Transfer Procedure Genetic Intervention Alternative descriptions: Application of genetic material into cells in order to correct an inherited or acquired disease. Treatment of human disease by gene transfer. Treatment that alters a gene. In studies of gene therapy for cancer, researchers are trying to improve the body's natural ability to fight the disease or to make the cancer cells more sensitive to other kinds of therapy. Gene Therapy Research Subject ID Clinic Subject ID Procedures which temporarily or permanently remedy insufficient cleansing of body fluids by the kidneys. Could this and it's sub-classes not fall below any of the other main Therapeutics classes? Symptomatic? MESH:D017582 no Renal Replacement Therapy 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. TRAK:0001203 no Lifestyle Therapy Hemoglobin D trait have red blood cells that have normal hemoglobin A and an abnormal hemoglobin. Description needs work. This should describe an abnormal hemoglobin. no Hb D HbD Hemoglobin D A group of abnormal hemoglobins in which amino acid substitutions take place in either the alpha or beta chains but near the heme iron. D006449 no Hb M Hemoglobin M An abnormal hemoglobin in which lysine replaces glutamic acid at the position 26 of the beta globin. D006446 yes Hb E It is most frequently observed in southeast Asian populations. Hemoglobin E A group of disorders caused by large deletions of the beta-globin gene complex; typically 30% fetal haemoglobin. SCD-S/HPFH no HPFH-Sickle Cell Disease Syndrome Hereditary Persistence of Fetal Hemoglobin-Sickle Cell Disease Syndrome Sickle Cell Disease Syndrome-Hereditary Persistence of Fetal Hemoglobin Sickle Cell Disease-S/Persistence of Fetal Hemoglobin Sickle Cell-Hereditary Persistence of Fetal Hemoglobin Sickle Cell Disease-S/HPFH Hemoglobin subunit delta (147 aa, ~16 kDa) is encoded by the human HBD gene. This protein plays a role in the transport of oxygen to tissues of the adult body. no Hemoglobin Delta Chain Hemoglobin Subunit Delta Hemoglobin subunit delta accounts for only ~3% of total hemoglobin in adults. Delta-Globin Hemoglobin subunit beta (147 aa, ~16 kDa) is encoded by the human HBB1 gene. This protein plays a role in the transport of oxygen to tissues of the adult body. no Hemoglobin Beta Chain Hemoglobin Subunit Beta Beta-Globin Beta-Globin Gene Disease-causing germline mutation(s) in Beta-thalassemia intermediaAssessed Disease-causing germline mutation(s) in Beta-thalassemia majorAssessed Disease-causing germline mutation(s) in Delta-beta-thalassemiaAssessed Disease-causing germline mutation(s) in Dominant beta-thalassemiaAssessed Disease-causing germline mutation(s) in Heinz body anemiaAssessed Disease-causing germline mutation(s) in Hemoglobin C-beta-thalassemia syndromeAssessed Disease-causing germline mutation(s) in Hemoglobin C diseaseAssessed Disease-causing germline mutation(s) in Hemoglobin D diseaseAssessed Disease-causing germline mutation(s) in Hemoglobin E-beta-thalassemia syndromeAssessed Disease-causing germline mutation(s) in Hemoglobin E diseaseAssessed Disease-causing germline mutation(s) in Hemoglobin M diseaseAssessed Disease-causing germline mutation(s) in Hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeAssessed Disease-causing germline mutation(s) in Hereditary persistence of fetal hemoglobin-sickle cell disease syndromeAssessed Disease-causing germline mutation(s) in Sickle cell anemiaAssessed Disease-causing germline mutation(s) in Sickle cell-beta-thalassemia disease syndromeAssessed Disease-causing germline mutation(s) in Sickle cell-hemoglobin C disease syndromeAssessed Disease-causing germline mutation(s) in Sickle cell-hemoglobin D disease syndromeAssessed Disease-causing germline mutation(s) in Sickle cell-hemoglobin E disease syndromeAssessed Part of a fusion gene in Hemoglobin Lepore-beta-thalassemia syndromeAssessed HBB1 Hemoglobin, Delta Disease-causing germline mutation(s) in Delta-beta-thalassemia Part of a fusion gene in Hemoglobin Lepore-beta-thalassemia syndrome HBD An abnormal hemoglobin that results from the substitution of glutamic acid with lysine at position 121 of the beta chain. Hb O-Arab C032031 MESH and Zimmerman SA. Am J Hematol. 1999 Apr; 60(4) 279-84 yes Hb O-Arab Hb-Arab Hemoglobin-Arab Found mainly in Balkans, the Middle East, and Africa. When co-occurring with Hemoglobin S, it can lead to a severe sickling hemoglobinopathy similar to that of homozygous sickle cell anemia. Hemoglobin O-Arab A material processing technique that uses operative manual and instrumental techniques on a patient to investigate and/or treat a pathological condition such as disease or injury or to help improve bodily function or appearance. ERO:0000378 no Surgery A material entity bearing an antifungal disposition. IDO:0000560 no Antifungal Treatment of factors associated with the definitive onset of a disease, illness, accident, behavioral response, or course of action. Usually one factor is more important or more obviously recognizable than others, if several are involved, and one may often be regarded as "necessary". Examples include exposure to specific disease; amount or level of an infectious organism, drug, or noxious agent, etc. MESH:D015985 no Management of Precipitating Factors Management of Underlying Cause Treatment of Underlying Cause Treatment of Precipitating Factors Blindness is the condition of lacking visual perception due to physiological or neurological factors. HP:0000618 no Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source. Blindness 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. HP:0000505 no Impaired Vision Impaired Visual Function Loss of Eyesight Poor Vision Visual Impairment The information in this class and its sub-classes will be migrated to evidence code properties. Evidence Code IEA (inferred from electronic annotation) This should be used for information extracted from articles in the medical literature. Generally, annotations of this type will include the pubmed id of the published study in the DB:Reference field. PCS (published clinical study) Can be used for annotations based on individual clinical experience. This may be appropriate for disorders with a limited amount of published data. This must be accompanied by an entry in the DB:Reference field denoting the individual or center performing the annotation together with an identifier. ICE (individual clinical experience) ITM (inferred by text-mining) Usually reviews or disease entries (e.g. OMIM) that only refers to the original publication. TAS (traceable author statement) used in all cases where the author makes a statement that a curator wants to capture but for which there are neither results presented nor a specific reference cited in the source used to make the annotation. NAS (non-traceable author statement) Used for those cases where an annotation is not supported by any direct evidence, but can be reasonably inferred by a curator from other annotations, for which evidence is available. IC (inferred by curator) from personal attribute SCDO A diagnostic instrument, technique, laboratory assay or test, or method of patient examination used for differential diagnosis. Diagnostic Tool A research instrument consisting of a series of questions and other prompts for the purpose of gathering information from respondents to assist with differential diagnosis. yes Diagnostic Questionnaire Diagnostic Instrument from diagnostics from therapeutics B-Thal mutations: http://onlinelibrary.wiley.com/doi/10.1111/j.1582-4934.2004.tb00278.x/pdf https://www.ncbi.nlm.nih.gov/pubmed/15153712 SCD Causal Mutation The glutamic acid in position 6 in the primary sequence of a beta-chain produced by the HBB gene is replaced by valine. yes E6V HBB, GLU6VAL A mutation where the HBB, GLU121LYS A mutation where the HBB, GLU6LYS A mutation where the HBB, GLU26LYS A mutation where the glutamic acid in position 121 in the primary sequence of a beta-chain produced by the HBB gene is replaced by glutamine. Derived from a point mutation in the beta-globin gene (HBB: c.364G>C; rs33946267). HBB, GLU121GLN A mutation where the aspartic acid in position 73 in the primary sequence of a beta-chain produced by the HBB gene is replaced by asparagine. yes Asp73Asn HBB, ASP73ASN A mutation where the HBB, VAL23ILE A mutation where the HBB, THR87ILE A mutation where the HBB, LEU68PHE The alleles, or variant forms of the HBB gene, that are carried by an SCD sufferer. All include at least one copy of the... Paper mentioning haplotypes and severity: https://www.nature.com/scitable/topicpage/sickle-cell-anemia-a-look-at-global-8756219 Table of SCD Genotypes: http://onlinelibrary.wiley.com/doi/10.1111/j.1582-4934.2004.tb00278.x/pdf HBB allelic variants: https://www.omim.org/entry/141900#0243 Perhaps have parent class Hemoglobinopathy Genotype, with Hemoglobinopathy Trait below that? yes SCD Genotype SC Genotype β6Glu>Val/β6Glu>Lys SC S/D-Punjab Genotype β6Glu>Val/β121Glu>Gln S/D-Punjab S/O-Arab Genotype β6Glu>Val/β121Glu>Lys S/O-Arab SE Genotype β6Glu>Val/β26Glu>Lys SE SS Genotype β6Glu>Val/β6Glu>Val SS SD Genotype SD Sickle Cell Disease S/C-Harlem Genotype β6Glu>Val/β6Glu>Val/β, β73Asp>Asn S/C-Harlem An abnormal hemoglobin in which two mutations occurring in its beta-chains results in the sickling of red blood cells containing this hemoglobin. The sickling is the result of the mutation in which glutamic acid in position 6 is replaced by valine, which is not counteracted by the second mutation, in which the aspartic acid in position 73 is replaced by asparagine. yes HbS-HBC-Harlem Hemoglobin C-Georgetown Hemoglobin S-Hemoglobin C-Harlem Hemoglobin C-Harlem SCD Molecular Phenotype Abnormal Hemoglobin Level Present in SCD SCD-S/C-Harlem SC(Harlem) Disease Sickle Cell-Hemoglobin C-Harlem Disease Electrophoretically resembles HbSC, but clinically severe; double mutation in beta-globin gene; very rare. Sickle Cell Disease-S/C-Harlem A 106-kb deletion of the beta globin gene cluster. yes HPFH1 HBB, 106-KB DEL Re: diagnosing b-thalassemia --> http://onlinelibrary.wiley.com/doi/10.1111/j.1582-4934.2004.tb00278.x/pdf Hemoglobinopathy Occuring in Heterozygous State in Sickle Cell Disease Variants S/Beta -Thal Genotype S/Beta -Thalassaemia Genotype S/Beta -Thalassemia There is no consensus about the classification of Hb S/β-Thal, but it is usually classified in two types: Hb S/β0-Thal and Hb S/β+-Thal. S/Beta -Thal The determination of the amount of hemoglobin F present in a sample. no Fetal Hemoglobin Hemoglobin F Hemoglobin F Measurement S/Beta-Zero-Thal Genotype S/Beta-Zero-Thalassaemia Genotype S/Beta-Zero-Thalassemia S/Beta-Zero-Thal Severe S/Beta-Plus-Thal Severe S/Beta-Plus-Thal Genotype Severe S/Beta-Plus-Thalassaemia Genotype 1–5% HbA present. Severe S/Beta-Plus-Thal S/HPFH Genotype S/HPFH S/Lepore S/Lepore Boston Genotype S/Lepore Genotype S/Lepore Boston A dominant form of sickle-cell disease involving a double mutation in one beta-globin gene that results in hemoglobin with low oxygen affinity. yes Only one case has been described. A/Jamaica Plain A sickling hemoglobin with reduced oxygen affinity that causes severe hemolytic anemia and sickling of erythrocytes. yes Hb JP Hb Jamaica Plain Hemoglobin JP Hemoglobin Jamaica Plain Hemoglobin S-Antilles Hb S-Oman Hemoglobin S-Oman A very rare dominant form of sickle-cell disease caused by double mutation in one beta-globin gene. yes A/S-Oman Mild SCD-S Beta Plus Thal Mild Sickle Cell-Beta Plus Thalassaemia Mild Sickle Cell Disease-S Beta Plus Thalassemia Moderate SCD-S Beta Plus Thal Moderate Sickle Cell-Beta Plus Thalassaemia Moderate Sickle Cell Disease-S Beta Plus Thalassemia Severe SCD-S Beta Plus Thal Severe Sickle Cell-Beta Plus Thalassaemia Severe Sickle Cell Disease-S Beta Plus Thalassemia Moderate S/Beta-Plus-Thal Genotype Moderate S/Beta-Plus-Thalassaemia Genotype 6–15% HbA present. Moderate S/Beta-Plus-Thal Mild S/Beta-Plus-Thal Genotype Mild S/Beta-Plus-Thalassaemia Genotype 16–30% HbA present. Mild S/Beta-Plus-Thal β6Glu>Lys/β6Glu>Val, β23Val–Ile C/S Antilles Sickling Hemoglobin with Two Beta-Globin Gene Substitutions Described only in a compound heterozygote with Hemoglobin S. Hemoglobin S-South End A compound heterozygous genotype, involving the mutations for Hemoglobin S and Hemoglobin Quebec Chori, which shows an electrophoretic pattern similar to that of the Hb A/S Genotype, but shows sickling. S/Quebec-Chori Genotype β6Glu>Val/β87Thr>Ile S/Quebec-Chori An abnormal hemoglobin in which a threonine replaces an isoleucine residue at the eighty-seventh position of beta chains. It migrates like HbA but promotes sickling. yes Hemoglobin Quebec Chori A severe compound heterozygous sickling disorder. SCD-S/Quebec Chori Sickle Cell-Hemoglobin Quebec Chori Disease Sickle Cell Disease-S/Quebec Chori LYS132ASN HBB, LYS132ASN A compound heterozygous genotype, involving the mutations for Hemoglobin S and Hemoglobin S-South End. S/S-South End Genotype S/S-South End The most common Hemoglobin Lepore type and the only type of the three known variants described in association with HbS. This abnormal hemoglobin consists of two normal alpha globin chains (HBA) and two deltabeta globin fusion chains which occur due to a "crossover" between the delta (HBD) and beta globin (HBB) gene loci during meiosis. yes Hb Lepore-B-W Hb Lepore-Boston-Washington Hemoglobin Lepore-Boston-Washington Hb Lepore is produced at a reduced rate and this is why the disease is related to the Β-thalassemic syndromes. Quantity in heterozygotes 7-13%; found in combination with Hb S, Hb C, beta+-thal, and in the homozygous state. the most common Hb Lepore type; found mainly in Italian families; it has also been observed in families from Rumania, Yugoslavia, Turkey, Cyprus, Jamaica, Cuba, Greece, England, Australia, Mexico, etc Hemoglobin Lepore Boston SCD-S/S-South End Sickle Cell-Hemoglobin S-South End Disease Severe sickle cell disease was present in the adult carrier. Sickle Cell Disease-S/S-South End S/Beta-Plus-Thal Class has all required metadata, but is either not guaranteed to be in its final location in the ontology or refers to another class that is not complete. yes metadata complete SCDO Class has all required metadata, but still needs to be linked to other class(es) metadata complete - requires linking Class is being worked on; however, the metadata (including description) are not complete or sufficiently clear to the curators. yes metadata incomplete Term created to ease viewing/sort terms for development purpose, and will not be included in a release. no organizational term All definitions, placement in the asserted IS_A hierarchy and required minimal metadata are complete. The class is awaiting a final review by the SCDO working group. yes pending vetting by the SCDO WG Class has undergone final review, is ready for use, and will be included in the next release. Any class lacking "ready_for_release" should be considered likely to change place in hierarchy, have its definition refined, or be obsoleted in the next release. Those classes deemed "ready_for_release" will also derived from a chain of ancestor classes that are also "ready_for_release." no ready for release A term that is metadata complete, has been reviewed, and problems have been identified that require discussion before release. Such a term requires curator note(s) to identify the outstanding issues. yes requires discussion Terms with this status should eventually be replaced with a term from another ontology. yes to be replaced with external ontology term Nothing done yet beyond proposing a term name. yes uncurated Only label adapted example likely to be removed SCDO All definitions, placement in the ontology and required minimal metadata are complete. The property is awaiting a final review by the SCDO developers. pending vetting by the SCDO developers SCDO accepted by SCDO WG (WS2) Visit your GP if you or your child have unexplained symptomssuch as balance and co-ordination problems or difficulty walking, talking or swallowing. Family and medical history: Your GP may ask whether you have any family history of ataxia. They will also want to know about the progression of your symptoms. They might carry out a simple assessment of your balance, walking and co-ordination. Your GP may also ask how much alcohol you drink and whether you're taking any form of medication. This is because excessive drinking and certain medications can cause ataxia-like symptoms in some people. You may be referred for a series of tests to rule out other possible causes of your symptoms, such as an infection. The tests will probably include blood and urine tests. Further testing: If your symptoms suggest you may have acquired ataxia because of a serious underlying condition, it's likely you'll be admitted immediately to your nearest hospital. Otherwise, you'll be referred to a neurologist (a specialist in brain and nervous system conditions) for further testing or, in the case of children, a paediatrician. Some of the tests you may have are described below. Genetic testing: Genetic testing involves taking a sample of blood and testing the DNA in it for any genetic mutation known to cause ataxia.Currently, tests can detect the mutations responsible for Friedreich's ataxia, ataxia-telangiectasia and most of the spinocerebellar ataxias. Brain scans: Brain scans can be used to check for physical abnormalities in the brain that could be caused by certain types of hereditary ataxia. They can also be used to check for other problems that may affect your brain, such as a brain tumour. The two most widely used brain imaging scans are: magnetic resonance imaging (MRI) scan – this uses a strong magnetic field and radio waves to produce detailed scans of the soft tissue of the brain. computerised tomography (CT) scan – where a series of X-raysare taken and assembled by a computer into a detailed three-dimensional image of your brain Other tests: Some of the other tests you may have to help diagnose ataxia and determine how severe it is can include: a lumbar puncture – where a sample of cerebrospinal fluid is taken from the base of the spine to check it for infection and any other abnormalities. nerve conduction studies and electromyography (EMG) – tests used to assess the electrical activity in nerves and muscles. videofluoroscopy – a continuous moving X-ray taken while you swallow different types of food and drink. an electrocardiogram (ECG) – an assessment of the electrical activity of the heart. an echocardiogram – an ultrasound scan of the heart. Surgery main treatments are lifestyle changes to ensure you remain as healthy as possible medication to control associated problems such as high blood pressure and high cholesterol dialysis – treatment to replicate some of the kidney's functions; this may be necessary in advanced CKD kidney transplant – this may also be necessary in advanced CKD Cancer can be caused by genetic factors; lifestyle factors such as tobacco use, diet, and physical activity; certain types of infections; and environmental exposures to different types of chemicals and radiation. Severely Increased Albuminuria Pulse Oximeter Scintigraphy no D011877 The production of an image obtained by cameras that detect the radioactive emissions of an injected radionuclide as it has distributed differentially throughout tissues in the body. The image obtained from a moving detector is called a scan, while the image obtained from a stationary camera device is called a scintiphotograph. May be Acute (acute kidney injury) or chronic (see chronic kidney disease). Hair-pulling Ddiagnosed by kidney biopsy - Diagnostic features include capillary wall thickening, normal cellularity, IgG and C3 along capillary walls on immunofluorescence, and subepithelial deposits on electron microscopy [KDIGO 2012]. Main treatments are lifestyle changes to ensure you remain as healthy as possible medication to control associated problems such as high blood pressure and high cholesterol dialysis – treatment to replicate some of the kidney's functions; this may be necessary in advanced CKD kidney transplant – this may also be necessary in advanced CKD main treatments are: lifestyle changes to ensure you remain as healthy as possible medication to control associated problems such as high blood pressure and high cholesterol dialysis – treatment to replicate some of the kidney's functions; this may be necessary in advanced CKD kidney transplant – this may also be necessary in advanced CKD Hemoglobin M Disease Pain Management Biologic therapy, Antibody therapy, Stem-cell transplantation, Splenectomy, Steroid treatment, Radioimmunotherapy, Surgery, chemotherapy, and radiation therapy, A list of essential measures, measures that are critical to the collection of the measure at hand or are necessary for the interpretation of results for the measure at hand. Without such information, the data collected would be incomplete or misleading. essential measures (annotations) example to be eventually removed Anti-inflammatory medications for joint pain and stiffness. Steroid creams for rashes. Corticosteroids to minimize the immune response. Antimalarial drugs for skin and joint problems. Test for Stroke Risk in Children with Sickle Cell Disease - TCD yes uncurated Assessment for Hepatomegaly A measurement performed during physical examination to determine the size of the liver and identify possible hepatomegaly. Test for Stroke Risk in Children with Sickle Cell Disease - TCDi Peritonitis, intraabdominal abscess, or sepsis, necrotizing myometritis, necrotizing fasciitis of the abdominal wall, septic pelvic thrombophlebitis, and toxic shock syndrome are rare complications, death. Amy be associated to secondary infertility. Visit your GP if you or your child have unexplained symptomssuch as balance and co-ordination problems or difficulty walking, talking or swallowing. Family and medical history: Your GP may ask whether you have any family history of ataxia. They will also want to know about the progression of your symptoms. They might carry out a simple assessment of your balance, walking and co-ordination. Your GP may also ask how much alcohol you drink and whether you're taking any form of medication. This is because excessive drinking and certain medications can cause ataxia-like symptoms in some people. You may be referred for a series of tests to rule out other possible causes of your symptoms, such as an infection. The tests will probably include blood and urine tests. Further testing: If your symptoms suggest you may have acquired ataxia because of a serious underlying condition, it's likely you'll be admitted immediately to your nearest hospital. Otherwise, you'll be referred to a neurologist (a specialist in brain and nervous system conditions) for further testing or, in the case of children, a paediatrician. Some of the tests you may have are described below. Genetic testing: Genetic testing involves taking a sample of blood and testing the DNA in it for any genetic mutation known to cause ataxia. Currently, tests can detect the mutations responsible for Friedreich's ataxia, ataxia-telangiectasia and most of the spinocerebellar ataxias. Brain scans: Brain scans can be used to check for physical abnormalities in the brain that could be caused by certain types of hereditary ataxia. They can also be used to check for other problems that may affect your brain, such as a brain tumour. The two most widely used brain imaging scans are: magnetic resonance imaging (MRI) scan – this uses a strong magnetic field and radio waves to produce detailed scans of the soft tissue of the brain. computerised tomography (CT) scan – where a series of X-raysare taken and assembled by a computer into a detailed three-dimensional image of your brain Other tests: Some of the other tests you may have to help diagnose ataxia and determine how severe it is can include: a lumbar puncture – where a sample of cerebrospinal fluid is taken from the base of the spine to check it for infection and any other abnormalities. nerve conduction studies and electromyography (EMG) – tests used to assess the electrical activity in nerves and muscles. videofluoroscopy – a continuous moving X-ray taken while you swallow different types of food and drink. an electrocardiogram (ECG) – an assessment of the electrical activity of the heart. an echocardiogram – an ultrasound scan of the heart. Neurological disorders no Neurology The branch of medicine that deals with the anatomy, functions and disorders of the nervous system. Blood tests, such as antibody tests and a complete blood count, a urinalysis and a chest X-ray.