| syndroom van atrioventriculairseptumdefect, blefarofimose, radiaal en anaal defect (aandoening) | | syndroom van atrioventriculairseptumdefect, blefarofimose, radiaal en anaal defect | | syndroom van AVSD, blefarofimose, radiaal en anaal defect
| | Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome | | Houlston Ironton Temple syndrome
| | A rare genetic multiple congenital anomaly syndrome with characteristics of atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly placed anus, rectovaginal fistula) defects. |
| | Id | 763066009 | | 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 | 1352 |
| 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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