Huntington's Disease

Preferred Label : Huntington's Disease;

NCIt synonyms : Huntington Disease; Huntington's Chorea; HD; Huntington s Disease;

NCIt definition : A progressive hereditary neurodegenerative disorder inherited in an autosomal dominant fashion. Symptoms may appear at any age and include uncontrolled movements, clumsiness, balance problems, difficulty walking, talking, or swallowing. The disease has a progressive course with a decline in mental abilities, and the development of psychiatric problems.;

Codes from synonyms : G10;

Details

Origin ID

C82342;

UMLS CUI

C0020179;

Automatic exact mappings (from CISMeF team)
- Bergeron's chorea (disorder) [Inactive SNOMED CT concept]
- Chorea due to immunoglobulin A vasculitis (disorder) [SNOMED CT concept]
- Dubini's chorea (disorder) [SNOMED CT concept]
- Rheumatic chorea (disorder) [SNOMED CT concept]
- Sydenham's chorea [MedDRA Preferred Term]
- bergeron's chorea [SNOMED Notion]
- chorea [MeSH Descriptor]
- dehydrodolichyl diphosphate synthase subunit [ORDO Gene]
- dubini's chorea [SNOMED Notion]
- gastrointestinal hemorrhage [MeSH Descriptor]
- henoch's chorea [SNOMED Notion]
- huntingtin [ORDO Gene]
- huntington chorea [EMDN type]
- intervertebral disc displacement [MeSH Descriptor]
- myokymia [MeSH Descriptor]
Currated CISMeF NLP mapping
- Huntington chorea [Disease (Nov.)]
- Huntington chorea [Radlex concept]
- Huntington disease [PASCAL descriptor]
- Huntington disease [ACR pathology]
- Huntington disease [ICD-11 Sub-sub category]
- Huntington disease [OMIM Phenotype]
- Huntington disease [ORDO Disease]
- Huntington's chorea [ICD-9 code]
- Huntington's chorea [MedDRA LLT]
- Huntington's chorea (disorder) [SNOMED CT concept]
- Huntington's disease [MedDRA Preferred Term]
- Huntington's disease [ICD-10 category]
- Huntington's disease [DO Concept]
- Huntingtons disease [ICD-10 category (who)]
- Juvenile Huntington disease [ORDO Disease]
- huntington disease [MeSH Descriptor]
- huntington disease [MeSH concept]
- huntington's chorea [SNOMED Notion]
- huntington's disease [MedlinePlus Topic]
- juvenile huntington disease [MeSH concept]
DO Cross reference
- Huntington's disease [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Huntington chorea [Radlex concept]
- Huntington chorea [Disease (Nov.)]
- Huntington disease [ORDO Disease]
- Huntington disease [OMIM Phenotype]
- Huntington's chorea [ICD-9 code]
- Huntington's chorea [MedDRA LLT]
- Huntington's chorea (disorder) [SNOMED CT concept]
- Huntington's disease [MedDRA Preferred Term]
- Huntington's disease [ICD-10 category]
- Huntington's disease [DO Concept]
- Huntingtons disease [ICD-10 category (who)]
- huntington disease [MeSH concept]
- huntington disease [MeSH Descriptor]
- huntington's chorea [SNOMED Notion]
- huntington's disease [MedlinePlus Topic]
Validated automatic mappings to BTNT
- Juvenile onset Huntington's disease (disorder) [SNOMED CT concept]
associated_with_malfunction_of_gene_product
- Huntingtin [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- mCode Elixhauser Neurological Movement Disorder Value Set [NCIt concept]
- mCode Terminology [NCIt concept]
disease_mapped_to_gene
- HTT Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- HTT Gene [NCIt concept]
- HTT wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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