autosomaal dominante hereditaire aandoening
spinocerebellaire ataxie
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spinocerebellaire ataxie type 8 (aandoening)
spinocerebellaire ataxie type 8
SCA8
Spinocerebellar ataxia type 8
Main features described as cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients. Other features include dysexecutive disorders and commonly psychiatric disorders.
Id715753001
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
TargetG11.8
TermOverige gespecificeerde vormen van hereditaire ataxie
SNOMED CT to Orphanet simple map98760
SNOMED CT to ICD-10 extended map
TargetG11.8
RuleTRUE
AdviceALWAYS G11.8
CorrelationSNOMED CT source code to target map code correlation not specified