mitochondrial myopathy with lactic acidosis

Preferred Label : mitochondrial myopathy with lactic acidosis;

MeSH note : Metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness;

Details

Origin ID

C537476;

UMLS CUI

C1855033;

Currated CISMeF NLP mapping
- Mitochondrial myopathy with lactic acidosis [OMIM Phenotype]
- Mitochondrial myopathy, lactic acidosis, deafness syndrome (disorder) [SNOMED CT concept]
- Mitochondrial myopathy-lactic acidosis-deafness syndrome [ORDO Disease]
Has phenotype(s) (HPO)
- Growth failure [HPO term]
- Muscle weakness, severe [HPO term]
MeSH term(s) associated for indexing
- acidosis, lactic [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- hearing loss, central [MeSH Descriptor]
- mitochondrial myopathies [MeSH Descriptor]
ORDO relation(s)
- Mitochondrial myopathy-lactic acidosis-deafness syndrome [ORDO Disease]
Record concept(s)
- Mitochondrial myopathy with lactic acidosis [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial myopathy with lactic acidosis [OMIM Phenotype]
- Mitochondrial myopathy-lactic acidosis-deafness syndrome [ORDO Disease]

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