syndroom van gnathodiafysaire dysplasie (aandoening) | | syndroom van gnathodiafysaire dysplasie | | Gnathodiaphyseal dysplasia | | Gnathodiaphyseal dysplasia syndrome
| | A bone dysplasia with manifestation of bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones. Autosomal dominant mode of transmission. |
| Id | 715568002 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q79.8 | Term | Overige gespecificeerde congenitale misvormingen van botspierstelsel |
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SNOMED CT to Orphanet simple map | 53697 |
SNOMED CT to ICD-10 extended map | Target | Q79.8 | Rule | TRUE | Advice | ALWAYS Q79.8 | Correlation | SNOMED CT source code to target map code correlation not specified |
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