syndroom van wervelafwijking, anusatresie, hartafwijking, tracheo-oesofageale fistel, renale anomalie en defect van extremiteit met hydrocefalie (aandoening) | | syndroom van wervelafwijking, anusatresie, hartafwijking, tracheo-oesofageale fistel, renale anomalie en defect van extremiteit met hydrocefalie | | VACTERL-associatie met hydrocephalus syndroom van Sujansky-Leonard VACTERL-syndroom met hydrocefalie syndroom van wervelafwijking, anusatresie, hartafwijking, tracheo-oesofageale fistel, renale anomalie en defect van extremiteit met hydrocephalus
| | VACTERL syndrome with hydrocephalus | | Vertebral abnormality, anal atresia, cardiac abnormality, tracheo-esophageal fistula, renal anomaly, limb defect syndrome with hydrocephalus
| | VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheo-esophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association. |
| Id | 719043002 | 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 | 3412 |
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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