spinocerebellar ataxia, autosomal recessive 5

Preferred Label : spinocerebellar ataxia, autosomal recessive 5;

MeSH synonym : cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities;

Details

Origin ID

C537311;

UMLS CUI

C1847114;

CISMeF manual mappings
- CAMOS syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder) [SNOMED CT concept]
- Spinocerebellar ataxia, autosomal recessive 5 [OMIM Phenotype]
MeSH term(s) associated for indexing
- spinocerebellar degenerations [MeSH Descriptor]
Record concept(s)
- Spinocerebellar ataxia, autosomal recessive 5 [MeSH concept]
See also inter- (CISMeF)
- Galloway-mowat syndrome 1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CAMOS syndrome [ORDO Disease]
- Spinocerebellar ataxia, autosomal recessive 5 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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