autosomaal dominante hereditaire aandoening
spinocerebellaire ataxie
||
spinocerebellaire ataxie type 20 (aandoening)
spinocerebellaire ataxie type 20
SCA20
Spinocerebellar ataxia type 20
A very rare subtype of type I autosomal dominant cerebellar ataxia with cerebellar dysarthria as the initial typical manifestation. Prevalence is unknown. Fewer than 20 cases in a 4-generation Australian family of Anglo-Celtic descent have been reported to date. Age of symptomatic disease onset ranges from 19 to 64 years. Linked to chromosome 11q12.2-11q12.3.
Id718771009
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cerebellum
Associated morphologydegeneratieve afwijking
Finding sitestructuur van medulla spinalis
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG11.2
TermLaat optredende cerebellaire ataxie
SNOMED CT to Orphanet simple map101110
SNOMED CT to ICD-10 extended map
TargetG11.2
RuleTRUE
AdviceALWAYS G11.2
CorrelationSNOMED CT source code to target map code correlation not specified