spinocerebellar ataxia with epilepsy

Preferred Label : spinocerebellar ataxia with epilepsy;

MeSH note : mutation in POLG;

MeSH synonym : myoclonic epilepsy myopathy sensory ataxia;

Details

Origin ID

C564395;

UMLS CUI

C1843852;

Automatic exact mappings (from CISMeF team)
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [OMIM Phenotype]
Currated CISMeF NLP mapping
- Myoclonic epilepsy myopathy sensory ataxia (disorder) [SNOMED CT concept]
- Spinocerebellar ataxia with epilepsy [ICD-11 More detail]
- Spinocerebellar ataxia with epilepsy [ORDO Disease]
MeSH term(s) associated for indexing
- epilepsy [MeSH Descriptor]
- mitochondrial diseases [MeSH Descriptor]
- spinocerebellar ataxias [MeSH Descriptor]
Record concept(s)
- spinocerebellar ataxia with epilepsy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myoclonic epilepsy myopathy sensory ataxia (disorder) [SNOMED CT concept]
- Spinocerebellar ataxia with epilepsy [ORDO Disease]
- Spinocerebellar ataxia with epilepsy [ICD-11 More detail]

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