| 'spheroid body'-myopathie (aandoening) | | 'spheroid body'-myopathie | | Spheroid body myopathy | | A rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non or slowly progressive), associated with spheroid body inclusions (composed of myofilament material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations. |
| | Id | 765092004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G71.8 | | Term | Overige gespecificeerde primaire spieraandoeningen |
|
| SNOMED CT to Orphanet simple map | 268129 |
| SNOMED CT to ICD-10 extended map | | Target | G71.8 | | Rule | TRUE | | Advice | ALWAYS G71.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
