spinocerebellaire ataxie type 14 (aandoening)
spinocerebellaire ataxie type 14
Spinocerebellar ataxia type 14
A rare disease with manifestations of slowly progressive ataxia, dysarthria and nystagmus. The disease has been reported in more than twenty families from Europe, the United States, and Australia. Onset is usually in early adulthood while symptomatic disease onset may be from 10 to 70 years. In addition to cerebellar signs, hyperreflexia and decreased vibration sense are frequently observed. Caused by missense mutations in the PRKCG gene (19q13.4) encoding protein kinase C gamma (PKC-gamma).
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cerebellum
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermVroeg optredende cerebellaire ataxie
SNOMED CT to Orphanet simple map98763
SNOMED CT to ICD-10 extended map
AdviceALWAYS G11.1
CorrelationSNOMED CT source code to target map code correlation not specified