Preferred Label : Spinocerebellar ataxia type 11;
ICD-11 definition : Spinocerebellar ataxia type 11 is a subtype of autosomal dominant cerebellar ataxia
type 3, characterized by the early onset of cerebellar signs, eye movement abnormalities
and pyramidal signs and caused by a mutation in the TTBK2 gene.;
Origin ID : 743674840;
UMLS CUI : C1858351;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Spinocerebellar ataxia type 11 is a subtype of autosomal dominant cerebellar ataxia
type 3, characterized by the early onset of cerebellar signs, eye movement abnormalities
and pyramidal signs and caused by a mutation in the TTBK2 gene.
