Preferred Label : Spinocerebellar ataxia type 17;
ICD-11 definition : Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant
cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture
which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea,
spasticity, and epilepsy.;
Origin ID : 1173627424;
UMLS CUI : C1846707;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT
Spinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant
cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture
which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea,
spasticity, and epilepsy.