spinocerebellaire ataxie type 32 (aandoening)
spinocerebellaire ataxie type 32
Spinocerebellar ataxia type 32
Disease with characteristics of ataxia, cognitive impairment and azoospermia in males. Reported in one Chinese family to date. Disease onset occurs in adulthood with females more affected than males. Manifestations include cerebellar ataxia, cognitive impairment and in males, azoospermia. Cerebellar atrophy is visible with magnetic resonance imaging. The causal gene has not yet been identified but it is located to chromosome 7q32-q33.
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 map276183
SNOMED CT to ICD-10 extended map
AdviceALWAYS G11.8
CorrelationSNOMED CT source code to target map code correlation not specified