| syndroom van osteogenesis imperfecta, retinopathie, epileptische aanvallen en verstandelijke beperking (aandoening) | | syndroom van osteogenesis imperfecta, retinopathie, epileptische aanvallen en verstandelijke beperking | | Al Gazali-Nair-syndroom
syndroom van Al Gazali-Nair
| | Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome | | Al Gazali Nair syndrome
| | This syndrome has characteristics of osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two siblings born to consanguineous parents. |
| | Id | 722110003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 2773 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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