autosomaal dominante hereditaire aandoening
spinocerebellaire ataxie
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spinocerebellaire ataxie type 28 (aandoening)
spinocerebellaire ataxie type 28
SCA28
Spinocerebellar ataxia type 28
Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia. It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.
Id715824008
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 map101109
SNOMED CT to ICD-10 extended map
TargetG11.1
RuleTRUE
AdviceALWAYS G11.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified