spinocerebellar ataxia 29

Preferred Label : spinocerebellar ataxia 29;

CISMeF acronym : SCA29;

MeSH synonym : cerebellar vermis aplasia; cerebellar ataxia, early-onset, nonprogressive; aplasia of cerebellar vermis; cerebellar ataxia, congenital, nonprogressive, autosomal dominant; SCA29 Spinocerebellar Ataxia 29;

Details

Origin ID

C537206;

UMLS CUI

C1861732;

Automatic exact mappings (from CISMeF team)
- Agenesis of cerebellar vermis [HPO term]
- ITPR1 wt Allele [NCIt concept]
- Spinocerebellar ataxia type 30 [ORDO Disease]
- Spinocerebellar ataxia type 30 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 30 [ORDO Gene]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia 29 [OMIM Phenotype]
- Spinocerebellar ataxia type 29 [ORDO Disease]
- Spinocerebellar ataxia type 29 [ICD-11 More detail]
- Spinocerebellar ataxia type 29 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia type 29 [DO Concept]
MeSH term(s) associated for indexing
- spinocerebellar degenerations [MeSH Descriptor]
ORDO relation(s)
- Spinocerebellar ataxia type 30 [ORDO Disease]
Record concept(s)
- spinocerebellar ataxia 29 [MeSH concept]
See also inter- (CISMeF)
- Spinocerebellar ataxia 30 [OMIM Phenotype]
- Spinocerebellar ataxia type 30 [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia 29 [OMIM Phenotype]
- Spinocerebellar ataxia type 29 [ORDO Disease]
- Spinocerebellar ataxia type 29 [ICD-11 More detail]
- Spinocerebellar ataxia type 29 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia type 29 [DO Concept]

Keyword's position in hierarchy(ies) :

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