| distale myopathie door mutatie in 'valosin-containing protein' beginnend op volwassen leeftijd (aandoening) | | distale myopathie door mutatie in 'valosin-containing protein' beginnend op volwassen leeftijd | | distale myopathie door VCP-mutatie op volwassen leeftijd
| | Adult-onset distal myopathy due to valosin containing protein mutation | | Adult-onset distal myopathy due to VCP mutation
Adult-onset distal myopathy due to VCP (valosin containing protein) mutation
| | A rare genetic distal myopathy disorder with characteristics of middle age-onset distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness has been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles. |
| | Id | 770792007 | | 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 | 329478 |
| 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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