| syndroom van verstandelijke beperking, kleine gestalte, contractuur van hand en afwijking van geslachtsorgaan (aandoening) | | syndroom van verstandelijke beperking, kleine gestalte, contractuur van hand en afwijking van geslachtsorgaan | | syndroom van Urban-Rogers-Meyer
syndroom van mentale retardatie, kleine gestalte, contractuur van hand en afwijking van genitaliën
Prader-Willi-habitus, osteopenie en camptodactylie
Urban-Rogers-Meyer-syndroom
syndroom van verstandelijke handicap, kleine gestalte, contractuur van hand en afwijking van genitaliën
| | Urban Rogers Meyer syndrome | | Prader Willi habitus with osteopenia and camptodactyly
Intellectual disability and short stature with hand contracture and genital anomaly syndrome
| | This syndrome has characteristics of intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. |
| | Id | 716334004 | | 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 | 3409 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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