mitochondrial myopathies

Preferred Label : mitochondrial myopathies;

MeSH definition : A group of muscle diseases associated with abnormal mitochondria function.;

MeSH synonym : myopathies, mitochondrial; mitochondrial myopathy;

CISMeF synonym : myopathy, mitochondrial;

MeSH hyponym : luft disease; pleoconial myopathies; megaconial myopathies; Megaconial Myopathy; Myopathy, Megaconial; Myopathies, Pleoconial; Myopathy, Pleoconial; Pleoconial Myopathy; Disease, Luft; Luft's Disease; Disease, Luft's; Lufts Disease;

MeSH annotation : GEN or unspecified; prefer specifics; NARP syndrome (neuropathy, ataxia and retinitis pigmentosa) MITOCHONDRIAL MYOPATHIES ATAXIA RETINITIS PIGMENTOSA SYNDROME; general or unspecified; prefer specifics;

Wikipedia link : https://en.wikipedia.org/wiki/Mitochondrial myopathies;

Details

Origin ID

D017240;

UMLS CUI

C0162670;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [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]
Automatic exact mappings (from CISMeF team)
- Luft disease [ICD-11 More detail]
- Luft's hypermetabolic myopathy (disorder) [SNOMED CT concept]
- Megaconial myopathy (disorder) [SNOMED CT concept]
- megaconial myopathy [SNOMED Notion]
Currated CISMeF NLP mapping
- Mitochondrial Myopathy [NCIt concept]
- Mitochondrial cytopathy (disorder) [SNOMED CT concept]
- Mitochondrial myopathies [ICD-11 Category]
- Mitochondrial myopathy [PASCAL descriptor]
- Mitochondrial myopathy [HPO term]
- Mitochondrial myopathy [MedDRA Preferred Term]
- Mitochondrial myopathy [ORDO Disease]
- Mitochondrial myopathy (disorder) [SNOMED CT concept]
- Mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy [OMIM Phenotype]
- mitochondrial myopathy [DO Concept]
- mitochondrial myopathy [Disease (Nov.)]
- mitochondrial myopathy [SNOMED Notion]
DO Cross reference
- mitochondrial myopathy [DO Concept]
HPO term
- Mitochondrial myopathy [HPO term]
Manual BTNT mappings - CISMeF
- Adenosine monophosphate deaminase deficiency [ORDO Disease]
- Isolated complex I deficiency [ORDO Disease]
- Isolated succinate-CoQ reductase deficiency [ORDO Disease]
- Mitochondrial DNA depletion syndrome [ORDO Disease]
- Mitochondrial myopathy and sideroblastic anemia [ORDO Disease]
- Mitochondrial myopathy-lactic acidosis-deafness syndrome [ORDO Disease]
- Mitochondrial neurogastrointestinal encephalomyopathy [ORDO Disease]
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Muscular lipidosis [ORDO Disease]
ORDO relation(s)
- Mitochondrial myopathy [ORDO Disease]
Record concept(s)
- luft disease [MeSH concept]
- megaconial myopathies [MeSH concept]
- mitochondrial myopathies [MeSH concept]
- pleoconial myopathies [MeSH concept]
Related MeSH Supplementary Concept(s)
- Neuropathy ataxia and retinitis pigmentosa [MeSH Supplementary Concept]
- combined oxidative phosphorylation deficiency 3 [MeSH Supplementary Concept]
- mitochondrial DNA depletion syndrome, hepatocerebral form, autosomal recessive [MeSH Supplementary Concept]
- mitochondrial cytopathy [MeSH Supplementary Concept]
- mitochondrial dna depletion syndrome, encephalomyopathic form, with methylmalonic aciduria, autosomal recessive [MeSH Supplementary Concept]
- mitochondrial myopathy with a defect in mitochondrial protein transport [MeSH Supplementary Concept]
- mitochondrial myopathy with diabetes [MeSH Supplementary Concept]
- mitochondrial myopathy with lactic acidosis [MeSH Supplementary Concept]
- myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay [MeSH Supplementary Concept]
- myopathy, mitochondrial, lethal infantile [MeSH Supplementary Concept]
- trifunctional protein deficiency with myopathy and neuropathy [MeSH Supplementary Concept]
See also
- mitochondria, muscle [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial Myopathy [NCIt concept]
- Mitochondrial myopathy [ORDO Disease]
- Mitochondrial myopathy [HPO term]
- Mitochondrial myopathy [MedDRA Preferred Term]
- Mitochondrial myopathy (disorder) [SNOMED CT concept]
- Mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy [OMIM Phenotype]
- Mitochondrial myopathy, not elsewhere classified [ICD-10 Sub-category (who)]
- mitochondrial myopathy [SNOMED Notion]
- mitochondrial myopathy [DO Concept]
- mitochondrial myopathy [Disease (Nov.)]
Validated automatic mappings to NTBT
- disorder of mitochondrial functions [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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