spinocerebellaire ataxie type 19 (aandoening)
spinocerebellaire ataxie type 19
Spinocerebellar ataxia type 19
Disease with characteristics of mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor. Prevalence is unknown. Only 12 cases in a 5-generation Dutch family have been reported to date. SCA19 presents in the third decade of life with symptomatic disease onset ranging from 10 to 46 years. Onset symptoms of SCA22 overlap significantly with those of SCA19 but with a more narrow age range of 35 to 46 years. Linkage to locus 1p21-q21 has been proposed but the gene mutation has 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
TermLaat optredende cerebellaire ataxie
SNOMED CT to Orphanet simple map98772
SNOMED CT to ICD-10 extended map
AdviceALWAYS G11.2
CorrelationSNOMED CT source code to target map code correlation not specified