X-linked myopathy with excess autophagy

Preferred Label : X-linked myopathy with excess autophagy;

ICD-11 definition : X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings: excessive autophagic activity and exocytosis of the phagocytosed material.;

ICD-11 synonym : XMEA - [x-linked myopathy with excess autophagy];

ICD-11 acronym : XMEA;

Details

Origin ID

347037859;

Automatic exact mappings (from CISMeF team)
- Myopathy, X-linked, with excessive autophagy [OMIM Phenotype]
- X-linked myopathy with excessive autophagy [DO Concept]
- X-linked myopathy with excessive autophagy [ORDO Disease]
- X-linked myopathy with excessive autophagy (disorder) [SNOMED CT concept]
- myopathy, X-Linked, with excessive autophagy [MeSH Supplementary Concept]
- myopathy, X-Linked, with excessive autophagy [MeSH concept]
- vacuolar ATPase assembly factor VMA21 [ORDO Gene]

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