myopathy with lactic acidosis, hereditary

Preferred Label : myopathy with lactic acidosis, hereditary;

MeSH synonym : myoglobinuria due to abnormal glycolysis; myopathy with exercise intolerance, swedish type; myopathy with deficiency of succinate dehydrogenase and aconitase; myopathy with deficiency of ISCU; myopathy with deficiency of Iron-Sulfur cluster assembly enzyme; hereditary myopathy with lactic acidosis; Iron-Sulfur cluster deficiency myopathy;

Details

Origin ID

C564972;

UMLS CUI

C1850718;

Currated CISMeF NLP mapping
- Aconitase deficiency [ICD-11 More detail]
- Deficiency of aconitate hydratase (disorder) [SNOMED CT concept]
- Hereditary myopathy with lactic acidosis due to ISCU deficiency [ORDO Disease]
- Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder) [SNOMED CT concept]
- Myopathy with lactic acidosis, hereditary [OMIM Phenotype]
MeSH term(s) associated for indexing
- acidosis, lactic [MeSH Descriptor]
- muscular diseases [MeSH Descriptor]
Record concept(s)
- myopathy with lactic acidosis, hereditary [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary myopathy with lactic acidosis due to ISCU deficiency [ORDO Disease]
- Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder) [SNOMED CT concept]
- Myopathy with lactic acidosis, hereditary [OMIM Phenotype]

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