Spinocerebellar ataxia type 16

Preferred Label : Spinocerebellar ataxia type 16;

ICD-11 definition : Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment.;

Détails

Origin ID

2143388945;

UMLS CUI

C4014261;

Currated CISMeF NLP mapping
- Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency (disorder) [SNOMED CT concept]
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency [ORDO Disease]
- Spinocerebellar Ataxia Type 16 [NCIt concept]
- Spinocerebellar ataxia, autosomal recessive 16 [OMIM Phenotype]
- autosomal recessive spinocerebellar ataxia 16 [DO Concept]
See also inter- (CISMeF)
- Spinocerebellar ataxia 15 [OMIM Phenotype]
- spinocerebellar ataxia type 15 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency [ORDO Disease]
- Spinocerebellar Ataxia Type 16 [NCIt concept]
- Spinocerebellar ataxia, autosomal recessive 16 [OMIM Phenotype]

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