syndroom van afwezige radius en anogenitale anomalieën (aandoening) | | syndroom van afwezige radius en anogenitale anomalieën | | Absent radius, anogenital anomalies syndrome | | A rare genetic limb reduction defects syndrome with characteristics of bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (for example hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993. |
| Id | 771264005 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q87.2 | Term | Congenitale gestoorde-ontwikkelingssyndromen van hoofdzakelijk extremiteiten |
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SNOMED CT to Orphanet simple map | 3016 |
SNOMED CT to ICD-10 extended map | Target | Q87.2 | Rule | TRUE | Advice | ALWAYS Q87.2 | 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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