spinocerebellaire ataxie type 17 (aandoening)
spinocerebellaire ataxie type 17
Spinocerebellar ataxia type 17
Huntington disease-like 4
Disease with characteristics of a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity and epilepsy. Worldwide prevalence is unknown. Fewer than 100 families have been reported to date. Clinical features overlap with many neurodegenerative syndromes and specifically Huntington disease. Caused by a CAG repeat expansion in the TATA box-binding protein gene TBP (6q27). Prognosis is poor. More than 60% of patients present with dysphagia which frequently results in aspiration and death. Mean disease duration is less than 18 years and a few patients live beyond 60 years of age.
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cerebellum
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde vormen van hereditaire ataxie
SNOMED CT to Orphanet simple map98759
SNOMED CT to ICD-10 extended map
AdviceALWAYS G11.8
CorrelationSNOMED CT source code to target map code correlation not specified