spinocerebellaire ataxie type 21 (aandoening)
spinocerebellaire ataxie type 21
Spinocerebellar ataxia type 21
A very rare subtype of type I autosomal dominant cerebellar ataxia with characteristics of slowly progressive cerebellar ataxia, mild cognitive impairment, postural and or resting tremor, bradykinesia, and rigidity. Prevalence is unknown. Fewer than 20 cases in a 4-generation French family have been reported to date. Maps to chromosome 7p21.3-p15.1 but the gene and gene mutation have not been identified.
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cerebellum
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermVroeg optredende cerebellaire ataxie
SNOMED CT to Orphanet simple map98773
SNOMED CT to ICD-10 extended map
AdviceALWAYS G11.1
CorrelationSNOMED CT source code to target map code correlation not specified