Distal myopathy with rimmed vacuoles

Preferred Label : Distal myopathy with rimmed vacuoles;

ICD-11 definition : Nonaka distal myopathy is a skeletal muscle disease characterized by muscle weakness sparing the quadriceps. The quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2) constitute the same pathological entity.;

Details

Origin ID

1306425531;

Automatic exact mappings (from CISMeF team)
- GNE myopathy [ORDO Disease]
- GNE myopathy [DO Concept]
- Inclusion body myopathy 2 (disorder) [SNOMED CT concept]
- Myopathy, distal, with rimmed vacuoles [OMIM Phenotype]
- distal myopathy, nonaka type [MeSH Supplementary Concept]
- inclusion body myositis [DO Concept]

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