myoclonus epilepsy and ragged red fibers - CISMeF

" /> myoclonus epilepsy and ragged red fibers - CISMeF

CISMeF

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Myoclonus epilepsy and ragged red fibersSNOMED Notion

Preferred Label : myoclonus epilepsy and ragged red fibers;

Details

Origin ID

DA-51670;

UMLS CUI

C0162672;

Currated CISMeF NLP mapping
- Fukuhara syndrome (disorder) [Inactive SNOMED CT concept]
- MERRF [ORDO Disease]
- MERRF syndrome [PASCAL descriptor]
- MERRF syndrome [DO Concept]
- MERRF syndrome [MeSH concept]
- MERRF syndrome [MedDRA LLT]
- Myoclonic Epilepsy Associated with Ragged-Red Fibers [NCIt concept]
- Myoclonic epilepsy and ragged-red fibers [MedDRA LLT]
- Myoclonic epilepsy and ragged-red fibres [MedDRA Preferred Term]
- Myoclonic epilepsy associated with ragged-red fibers [OMIM Phenotype]
- Myoclonic epilepsy with ragged red fibers (disorder) [SNOMED CT concept]
- Myoclonic epilepsy, ragged red fibres [ICD-11 More detail]
- Myoclonus epilepsy AND ragged red fibers (disorder) [Inactive SNOMED CT concept]
- merrf syndrome [MeSH Descriptor]
ICD-10 exact mapping(s)
- Generalized idiopathic epilepsy and epileptic syndromes [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Mitochondrial disease with dilated cardiomyopathy [ORDO Disease]
- Mitochondrial disease with eye involvement [ORDO Disease]
- Mitochondrial disease with hypertrophic cardiomyopathy [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
Metaterm(s)
- neurology [CISMeF Metaterm]
SNOMED CT concept
- Myoclonus epilepsy AND ragged red fibers (disorder) [Inactive SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fukuhara syndrome (disorder) [Inactive SNOMED CT concept]
- MERRF [ORDO Disease]
- MERRF syndrome [MeSH concept]
- MERRF syndrome [DO Concept]
- MERRF syndrome [PASCAL descriptor]
- MERRF syndrome [MedDRA LLT]
- Myoclonic Epilepsy Associated with Ragged-Red Fibers [NCIt concept]
- Myoclonic epilepsy and ragged-red fibers [MedDRA LLT]
- Myoclonic epilepsy and ragged-red fibres [MedDRA Preferred Term]
- Myoclonic epilepsy associated with ragged-red fibers [OMIM Phenotype]
- Myoclonic epilepsy with ragged red fibers (disorder) [SNOMED CT concept]
- Myoclonus epilepsy AND ragged red fibers (disorder) [Inactive SNOMED CT concept]
- merrf syndrome [MeSH Descriptor]

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05/05/2025

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