Mitochondrial myopathy with sideroblastic anaemia

Preferred Label : Mitochondrial myopathy with sideroblastic anaemia;

ICD-11 definition : Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.;

ICD-11 synonym : Myopathy, lactic acidosis and sideroblastic anaemia; MLASA - [Myopathy, lactic acidosis and sideroblastic anaemia]; MSA - [Mitochondrial myopathy with sideroblastic anaemia];

ICD-11 acronym : MLASA; MSA;

Details

Origin ID

678852156;

Automatic exact mappings (from CISMeF team)
- Ashworth assessment scale (assessment scale) [SNOMED CT concept]
- Multiple system atrophy [ORDO Disease]
- Still's disease, Adult-Onset [MeSH Descriptor]
- TPO wt Allele [NCIt concept]
- aggressive systemic mastocytosis [MeSH concept]
- multiple system atrophy [MeSH Descriptor]
Currated CISMeF NLP mapping
- Mitochondrial myopathy and sideroblastic anemia [ORDO Disease]
- Mitochondrial myopathy with sideroblastic anemia syndrome (disorder) [SNOMED CT concept]
- Myopathy with lactic acidosis and sideroblastic anemia [MeSH concept]
- Myopathy, lactic acidosis, and sideroblastic anemia 1 [OMIM Phenotype]
- myopathy with lactic acidosis and sideroblastic anemia [MeSH Supplementary Concept]
- myopathy, lactic acidosis, and sideroblastic anemia [DO Concept]
False automatic mappings
- Adult-onset Still disease [ORDO Disease]
- Malay Language [NCIt concept]
- Memorial Symptom Assessment Scale [NCIt concept]

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