spinocerebellar ataxia, autosomal recessive 2

Preferred Label : spinocerebellar ataxia, autosomal recessive 2;

MeSH synonym : cerebelloparenchymal disorder III; CPD III; SCAR2; cerebellar granular cell hypoplasia and mental retardation, congenital; cerebellar hypoplasia, nonprogressive norman type; CPD3; Spinocerebellar Ataxia Autosomal Recessive 2;

Détails

Origin ID

C565865;

UMLS CUI

C1859298;

Currated CISMeF NLP mapping
- Autosomal recessive cerebelloparenchymal disorder type 3 [ORDO Disease]
- Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) [SNOMED CT concept]
- Spinocerebellar ataxia, autosomal recessive 2 [OMIM Phenotype]
- autosomal recessive spinocerebellar ataxia 2 [DO Concept]
MeSH term(s) associated for indexing
- spinocerebellar degenerations [MeSH Descriptor]
Record concept(s)
- spinocerebellar ataxia, autosomal recessive 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive cerebelloparenchymal disorder type 3 [ORDO Disease]
- Autosomal recessive cerebelloparenchymal disorder type 3 (disorder) [SNOMED CT concept]
- Spinocerebellar ataxia, autosomal recessive 2 [OMIM Phenotype]
- autosomal recessive spinocerebellar ataxia 2 [DO Concept]

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