| osteogenesis imperfecta met hoge botmassa (aandoening) | | osteogenesis imperfecta met hoge botmassa | | High bone mass osteogenesis imperfecta | | A rare genetic primary bone dysplasia disorder with characteristics of increased bone fragility manifesting with multiple childhood-onset vertebral and peripheral fractures that are associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing and sclerae are commonly normal. |
| | Id | 782781006 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q78.0 | | Term | Osteogenesis imperfecta |
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| SNOMED CT to Orphanet simple map | 314029 |
| SNOMED CT to ICD-10 extended map | | Target | Q78.0 | | Rule | TRUE | | Advice | ALWAYS Q78.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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