Spinocerebellar ataxia with epilepsy

Preferred Label : Spinocerebellar ataxia with epilepsy;

ICD-11 definition : This is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a disease in its own right.;

ICD-11 synonym : SCAE - [Spinocerebellar ataxia with epilepsy];

ICD-11 acronym : SCAE;

Details

Origin ID

1238648682;

UMLS CUI

C1843852;

Currated CISMeF NLP mapping
- Spinocerebellar ataxia with epilepsy [ORDO Disease]
- spinocerebellar ataxia with epilepsy [MeSH concept]
- spinocerebellar ataxia with epilepsy [MeSH Supplementary Concept]
See also inter- (CISMeF)
- POLG wt Allele [NCIt 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 [MeSH concept]
- spinocerebellar ataxia with epilepsy [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Myoclonic epilepsy myopathy sensory ataxia (disorder) [SNOMED CT concept]
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [OMIM Phenotype]

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