| distale anoctaminopathie (aandoening) | | distale anoctaminopathie | | Distal anoctaminopathy | | Miyoshi muscular dystrophy type 3
MMD3 - Miyoshi muscular dystrophy type 3
| | A rare autosomal recessive distal myopathy with characteristics of early adult-onset slowly progressive often asymmetrical lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels. Age at onset ranges from 20 to 50 years. Clinical manifestations can be mild or subjectively nonexistent in spite of presenting clear changes on muscle imaging. Caused by loss of function mutations in the gene ANO5 (11p14.3) which encodes a protein highly expressed in skeletal and cardiac muscle, as well as bone. |
| | Id | 783166000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G71.0 | | Term | Spierdystrofie |
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| SNOMED CT to Orphanet simple map | 399096 |
| SNOMED CT to ICD-10 extended map | | Target | G71.0 | | Rule | TRUE | | Advice | ALWAYS G71.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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