loading...| Preferred Name |
亨廷顿病 / Huntington disease |
| Definitions |
Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system. HD is an autosomal dominant disorder due to a t-mutation resulting in an increased number of triplicate cytosine-adenine-guanine repeats on chromosome 4. The manifestations include chorea, dementia and personality changes. In the Westphal variant dystonia and parkinsonism are prominent. Neuroimaging revels caudate atrophy. A genetic test is available and may facilitate presymptomatic detection. |
| ID |
http://purl.bmicc.cn/ontology/ICD11CN/8A01.10 |
| definition |
Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system. HD is an autosomal dominant disorder due to a t-mutation resulting in an increased number of triplicate cytosine-adenine-guanine repeats on chromosome 4. The manifestations include chorea, dementia and personality changes. In the Westphal variant dystonia and parkinsonism are prominent. Neuroimaging revels caudate atrophy. A genetic test is available and may facilitate presymptomatic detection. |
| hasDbXref | |
| inclusions |
Huntington chorea |
| label |
亨廷顿病 / Huntington disease |
| mappingRelation | |
| notation |
8A01.10 |
| prefixIRI |
ICD11CN:A01.10 |
| prefLabel |
亨廷顿病 / Huntington disease |
| subClassOf |