myopathy with lactic acidosis and sideroblastic anemia

Preferred Label : myopathy with lactic acidosis and sideroblastic anemia;

MeSH synonym : mitochondrial myopathy and sideroblastic anemia; MLASA;

Details

Origin ID

C536101;

UMLS CUI

C1838103;

Automatic exact mappings (from CISMeF team)
- Myopathy, lactic acidosis, and sideroblastic anemia [OMIM phenotypic series]
CISMeF manual mappings
- Mitochondrial myopathy and sideroblastic anemia [ORDO Disease]
Currated CISMeF NLP mapping
- Mitochondrial myopathy with sideroblastic anaemia [ICD-11 More detail]
- Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) [SNOMED CT concept]
- Myopathy, lactic acidosis, and sideroblastic anemia 1 [OMIM Phenotype]
- myopathy lactic acidosis and sideroblastic anemia 1 [Disease (Nov.)]
- myopathy, lactic acidosis, and sideroblastic anemia [DO Concept]
MeSH term(s) associated for indexing
- MELAS syndrome [MeSH Descriptor]
ORDO relation(s)
- Mitochondrial myopathy and sideroblastic anemia [ORDO Disease]
Record concept(s)
- Myopathy with lactic acidosis and sideroblastic anemia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial myopathy and sideroblastic anemia [ORDO Disease]
- Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) [SNOMED CT concept]
- Myopathy, lactic acidosis, and sideroblastic anemia 1 [OMIM Phenotype]
- myopathy lactic acidosis and sideroblastic anemia 1 [Disease (Nov.)]
- myopathy, lactic acidosis, and sideroblastic anemia [DO Concept]
Validated automatic mappings to BTNT
- Mitochondrial myopathy with sideroblastic anaemia, type 1 [ICD-11 More detail]

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