autosomaal dominante hereditaire aandoening
spinocerebellaire ataxie
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spinocerebellaire ataxie type 7 (aandoening)
spinocerebellaire ataxie type 7
SCA7
Spinocerebellar ataxia type 7
Cerebellar syndrome pigmentary maculopathy
Ataxia with pigmentary retinopathy
An autosomal dominant cerebellar ataxia type II that is characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.
Id715726000
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van medulla spinalis
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cerebellum
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 map94147
SNOMED CT to ICD-10 extended map
TargetG11.8
RuleTRUE
AdviceALWAYS G11.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified