Preferred Label : Spinocerebellar ataxia type 6;
ICD-11 definition : Spinocerebellar ataxia type 6 is the most common subtype of autosomal dominant cerebellar
ataxia type 3, most commonly seen in Japan, Korea, the Netherlands and Germany, characterized
by late-onset and slowly progressive gait ataxia, cerebellar signs and eye movement
problems and caused by mutations in the CACNA1A gene.;
Origin ID : 1056119281;
UMLS CUI : C0752124;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
Spinocerebellar ataxia type 6 is the most common subtype of autosomal dominant cerebellar
ataxia type 3, most commonly seen in Japan, Korea, the Netherlands and Germany, characterized
by late-onset and slowly progressive gait ataxia, cerebellar signs and eye movement
problems and caused by mutations in the CACNA1A gene.
