spinocerebellar ataxia, autosomal recessive 1

Preferred Label : spinocerebellar ataxia, autosomal recessive 1;

MeSH synonym : SCAR1; ataxia-oculomotor apraxia 2; ataxia-ocular apraxia 2; SCAN2; spinocerebellar ataxia with axonal neuropathy type 2; spinocerebellar ataxia, recessive, Non-Friedreich type 1; ataxia with oculomotor apraxia;

Détails

Origin ID

C537308;

UMLS CUI

C1853761;

Currated CISMeF NLP mapping
- Autosomal recessive ataxia with oculomotor apraxia type 2 [ICD-11 More detail]
- Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder) [SNOMED CT concept]
- Spinocerebellar ataxia with axonal neuropathy type 2 [ORDO Disease]
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [OMIM Phenotype]
- ataxia with oculomotor apraxia type 2 [Disease (Nov.)]
- ataxia with oculomotor apraxia type 2 [DO Concept]
- recessive non-Friedreich spinocerebellar ataxia type 1 [Disease (Nov.)]
MeSH term(s) associated for indexing
- spinocerebellar ataxias [MeSH Descriptor]
- spinocerebellar degenerations [MeSH Descriptor]
Record concept(s)
- Spinocerebellar ataxia, autosomal recessive 1 [MeSH concept]
See also inter- (CISMeF)
- Autosomal recessive ataxia with oculomotor apraxia type 2 [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder) [SNOMED CT concept]
- Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 [NCIt concept]
- Spinocerebellar ataxia with axonal neuropathy type 2 [ORDO Disease]
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [OMIM Phenotype]
- ataxia with oculomotor apraxia type 2 [DO Concept]
- ataxia with oculomotor apraxia type 2 [Disease (Nov.)]
- recessive non-Friedreich spinocerebellar ataxia type 1 [Disease (Nov.)]

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