Preferred Label : Spinocerebellar ataxia type 3;
ICD-11 definition : Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the
most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1),
a neurodegenerative disorder, and is characterized by ataxia, external progressive
ophthalmoplegia, and other neurological manifestations.;
ICD-11 synonym : Machado-Joseph disease;
Origin ID : 1991007405;
UMLS CUI : C0024408;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the
most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1),
a neurodegenerative disorder, and is characterized by ataxia, external progressive
ophthalmoplegia, and other neurological manifestations.