" /> Huntington disease - CISMeF





ICD-11 code : 8A01.10;

Preferred Label : Huntington disease;

ICD-11 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.;

ICD-11 synonym : chronic progressive hereditary chorea; chronic progressive chorea; Huntington chorea; HC - [Huntington chorea];

ICD-11 acronym : HC;

ICD-11 inclusion : progressive hereditary chorea; hereditary chorea; Huntington chorea;

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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.

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07/05/2025


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