autosomaal dominante hereditaire aandoening
spinocerebellaire ataxie
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spinocerebellaire ataxie type 18 (aandoening)
spinocerebellaire ataxie type 18
SCA18
Spinocerebellar ataxia type 18
Disease with characteristics of sensory neuropathy and cerebellar ataxia. Prevalence is unknown. Only 26 cases in a 5-generation American family of Irish ancestry have been reported to date. Onset is in the second and third decades of life with symptomatic onset ranging from 13 to 27 years. Patients initially present with axonal sensory neuropathy, while cerebellar ataxia and motor neuron dysfunction develop later. Linked to chromosome 7q22-q23 but the responsible gene mutation has not yet been identified.
Id719250005
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 map98771
SNOMED CT to ICD-10 extended map
TargetG11.8
RuleTRUE
AdviceALWAYS G11.8
CorrelationSNOMED CT source code to target map code correlation not specified