| syndroom van malformatie van hersenen, congenitale hartziekte en postaxiale polydactylie (aandoening) | | syndroom van malformatie van hersenen, congenitale hartziekte en postaxiale polydactylie | | syndroom van hersenmisvorming, aangeboren hartziekte en postaxiale polydactylie
Goossens-Devriendt-syndroom
syndroom van Goossens-Devriendt
| | Brain malformation, congenital heart disease, postaxial polydactyly syndrome | | Goossens Devriendt syndrome
| | Goossens-Devriendt syndrome has characteristics of intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, brain malformation, abnormal hair with temporal balding and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay. |
| | Id | 717943008 | | 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 | 75389 |
| 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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