Myoclonic Epilepsy Associated with Ragged-Red Fibers

Preferred Label : Myoclonic Epilepsy Associated with Ragged-Red Fibers;

NCIt synonyms : MERRF Syndrome;

NCIt definition : A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy.;

Details

Origin ID

C84889;

UMLS CUI

C0162672;

Currated CISMeF NLP mapping
- Fukuhara syndrome (disorder) [Inactive SNOMED CT concept]
- MERRF [ORDO Disease]
- MERRF syndrome [DO Concept]
- MERRF syndrome [PASCAL descriptor]
- MERRF syndrome [MeSH concept]
- MERRF syndrome [MedDRA LLT]
- 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]
- myoclonus epilepsy and ragged red fibers [SNOMED Notion]
DO Cross reference
- MERRF syndrome [DO 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 [PASCAL descriptor]
- MERRF syndrome [DO Concept]
- MERRF syndrome [MeSH concept]
- MERRF syndrome [MedDRA LLT]
- 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]
- myoclonus epilepsy and ragged red fibers [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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