huntington disease

Preferred Label : huntington disease;

MeSH definition : A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4);

MeSH synonym : chorea, chronic progressive hereditary (huntington); huntington chorea; huntington chronic progressive hereditary chorea; huntington's chorea; chorea, huntington's; chorea, huntington; huntington's disease; progressive chorea, chronic hereditary (huntington); progressive chorea, hereditary, chronic (huntington); chronic progressive hereditary chorea (huntington);

CISMeF synonym : Huntington;

MeSH hyponym : juvenile huntington disease; huntington disease, late onset; Akinetic-Rigid variant of huntington disease; Late-Onset Huntington Disease; Huntington Disease, Late-Onset; Late Onset Huntington Disease; Juvenile-Onset Huntington Disease; Juvenile Onset Huntington Disease; Huntington Disease, Juvenile-Onset; Huntington Disease, Juvenile Onset; Huntington Disease, Juvenile; Akinetic Rigid Variant of Huntington Disease; Huntington Disease, Akinetic-Rigid Variant; Huntington Disease, Akinetic Rigid Variant;

Wikipedia link : https://en.wikipedia.org/wiki/Huntington disease;

Details

Origin ID

D006816;

UMLS CUI

C0020179;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Huntington's Disease Pathway [NCIt concept]
- Late onset Huntington's disease (disorder) [SNOMED CT concept]
- Rheumatic chorea (disorder) [SNOMED CT concept]
- Sydenham's chorea [MedDRA Preferred Term]
- huntington chorea [EMDN type]
- neurological disease other [ICPC-2 Rubric]
Currated CISMeF NLP mapping
- Huntington chorea [Disease (Nov.)]
- Huntington chorea [Radlex concept]
- Huntington disease [PASCAL descriptor]
- Huntington disease [ICD-11 Sub-sub category]
- Huntington disease [OMIM Phenotype]
- Huntington disease [ACR pathology]
- Huntington disease [ORDO Disease]
- Huntington's Disease [NCIt concept]
- 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's chorea [SNOMED Notion]
- huntington's disease [MedlinePlus Topic]
DO Cross reference
- Huntington's disease [DO Concept]
Indexing information
- Esrrbl1 protein, mouse [MeSH Supplementary Concept]
- HAP1 protein, human [MeSH Supplementary Concept]
- HIP1 protein, human [MeSH Supplementary Concept]
- HIP1R protein, human [MeSH Supplementary Concept]
- HTT protein, human [MeSH Supplementary Concept]
- Hap1 protein, mouse [MeSH Supplementary Concept]
- Hap1 protein, rat [MeSH Supplementary Concept]
- Hip1 protein, mouse [MeSH Supplementary Concept]
- Hip1r protein, mouse [MeSH Supplementary Concept]
- Hip1r protein, rat [MeSH Supplementary Concept]
- Htt protein, mouse [MeSH Supplementary Concept]
- Htt protein, rat [MeSH Supplementary Concept]
- IFT57 protein, human [MeSH Supplementary Concept]
- IT15 protein, rat [MeSH Supplementary Concept]
- huntingtin-interacting protein p231HBP [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Genetic neurodegenerative disease [ORDO Disease]
- Neurodegenerative disease with dementia [ORDO Disease]
- Oculomotor apraxia [ORDO Disease]
- Rare dementia [ORDO Disease]
- Rare genetic movement disorder [ORDO Disease]
- Rare movement disorder [ORDO Disease]
- Rare neurodegenerative disease [ORDO Disease]
MedlinePlus topic(s)
- huntington's disease [MedlinePlus Topic]
ORDO relation(s)
- Huntington disease [ORDO Disease]
Record concept(s)
- Akinetic-Rigid variant of huntington disease [MeSH concept]
- huntington disease [MeSH concept]
- huntington disease, late onset [MeSH concept]
- juvenile huntington disease [MeSH concept]
Related MeSH Supplementary Concept(s)
- huntington Disease-Like 1 [MeSH Supplementary Concept]
- huntington Disease-Like 3 [MeSH Supplementary Concept]
- westphal disease [MeSH Supplementary Concept]
See also inter- (CISMeF)
- 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]
- bergeron's chorea [SNOMED Notion]
- dubini's chorea [SNOMED Notion]
- henoch's chorea [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Huntington chorea [Radlex concept]
- Huntington chorea [Disease (Nov.)]
- Huntington disease [OMIM Phenotype]
- Huntington disease [ORDO Disease]
- Huntington's Disease [NCIt concept]
- 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's chorea [SNOMED Notion]
- huntington's disease [MedlinePlus Topic]
Validated automatic mappings to BTNT
- Juvenile Huntington Disease [NCIt concept]
- Juvenile onset Huntington's disease (disorder) [SNOMED CT concept]

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