Myoclonic epilepsy associated with ragged-red fibers

Preferred Label : Myoclonic epilepsy associated with ragged-red fibers;

Symbol : MERRF;

CISMeF acronym : MERRF;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Merrf syndrome;

Inheritance : Mitochondrial.;

Prefixed ID : #545000;

Details

Origin ID

545000;

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 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]
HPO term(s)
- Ataxia [HPO term]
- Epilepsy [HPO term]
- Generalized myoclonic seizure [HPO term]
- Increased serum lactate [HPO term]
- Increased serum pyruvate [HPO term]
- Mitochondrial inheritance [HPO term]
- Muscle weakness [HPO term]
- Myoclonus [HPO term]
- Myopathy [HPO term]
- Ragged-red muscle fibers [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- MERRF [ORDO Disease]
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 [MedDRA LLT]
- MERRF syndrome [DO Concept]
- MERRF syndrome [PASCAL descriptor]
- 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 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]

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