merrf syndrome

Preferred Label : merrf syndrome;

MeSH definition : A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986);

MeSH synonym : myoclonus with epilepsy with ragged red fibers; myoencephalopathy Ragged-Red fiber disease; syndrome, merrf; fukuhara syndrome; syndrome, fukuhara; myoclonic epilepsy with ragged red fibers; fukuhara disease; myoclonic epilepsy and ragged red fibers; myoencephalopathy ragged red fiber disease; myoclonic epilepsy associated with Ragged-Red fibers; myoclonic epilepsy associated with ragged red fibers; MERRF; myoclonic epilepsy with Ragged-Red fibers;

CISMeF synonym : MERRF syndromes;

CISMeF acronym : MERRF;

Wikipedia link : https://en.wikipedia.org/wiki/Merrf;

Details

Origin ID

D017243;

UMLS CUI

C0162672;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Fukuhara syndrome (disorder) [Inactive SNOMED CT concept]
- MERRF [ORDO Disease]
- MERRF syndrome [PASCAL descriptor]
- MERRF syndrome [DO 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]
- myoclonus epilepsy and ragged red fibers [SNOMED Notion]
DO Cross reference
- MERRF syndrome [DO Concept]
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]
ORDO relation(s)
- MERRF [ORDO Disease]
Record concept(s)
- MERRF syndrome [MeSH 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 [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]
- myoclonus epilepsy and ragged red fibers [SNOMED Notion]

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