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'pumilio RNA binding family member 1'-gerelateerde cerebellaire ataxie (aandoening)
PUM1-gerelateerde cerebellaire ataxie
SCA47 beginnend op volwassen leeftijd
spinocerebellaire ataxie type 47 beginnend op volwassen leeftijd
'pumilio RNA binding family member 1'-gerelateerde cerebellaire ataxie
PUM1-related cerebellar ataxia
Adult-onset spinocerebellar ataxia type 47
Pumilio RNA binding family member 1-related cerebellar ataxia
Adult-onset SCA47 (spinocerebellar ataxia type 47)
A rare hereditary ataxia with characteristics of adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis.
Id1303280001
StatusPrimitive
Clinical courseprogressief
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cerebellum
SNOMED CT to ICD-10 extended map
TargetG11.2
RuleTRUE
AdviceALWAYS G11.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified