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spinocerebellaire ataxie type 42 (aandoening)
spinocerebellaire ataxie type 42
SCA42
Spinocerebellar ataxia type 42
A rare autosomal dominant cerebellar ataxia with characteristics of pure and slowly progressive cerebellar signs combining gait instability, dysarthria, nystagmus, saccadic eye movements and diplopia. Less frequent clinical signs and symptoms include spasticity, hyperreflexia, decreased distal vibration sense, urinary urgency or incontinence and postural tremor.
Id1208513005
StatusPrimitive
Clinical courseprogressief
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cerebellum
SNOMED CT to Orphanet simple map458803
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