X-gebonden scapuloperoneale spierdystrofie (aandoening) | | X-gebonden scapuloperoneale spierdystrofie | | X-gebonden scapuloperoneaal syndroom
| | X-linked scapuloperoneal muscular dystrophy | | X-linked scapuloperoneal syndrome
| | A rare genetic muscular dystrophy disease with characteristics of the co-occurrence of late onset scapular and peroneal muscle weakness, principally manifesting with distal lower limb and proximal upper limb weakness and scapular winging. Caused by mutation in the FHL1 gene. |
| Id | 784352007 | 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 | 431272 |
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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