Myopathy with lactic acidosis and sideroblastic anemia

Preferred Label : Myopathy with lactic acidosis and sideroblastic anemia;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0530562;

UMLS CUI

C1838103;

Automatic exact mappings (from CISMeF team)
- Myopathy, lactic acidosis, and sideroblastic anemia [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Mitochondrial myopathy and sideroblastic anemia [ORDO Disease]
- 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]
Related record
- myopathy with lactic acidosis and sideroblastic anemia [MeSH Supplementary 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]