| syndroom van Pierre-Robin-sequentie, congenitaal hartdefect en talipes equinovarus (aandoening) | | syndroom van Pierre-Robin-sequentie, congenitaal hartdefect en talipes equinovarus | | TARP-syndroom
talipes equinovarus-atriumseptumdefect-Robin-sequentie-persisterende linker vena cava superior-syndroom
| | TARP syndrome | | TARP (talipes equinovarus, atrial septal defect, Robin sequence, persistence of left superior vena cava) syndrome
Pierre Robin syndrome, congenital heart defect, talipes syndrome
Pierre Robin sequence, congenital heart defect, talipes syndrome
| | A rare developmental defect during embryogenesis syndrome with characteristics of Robin sequence (micrognathia, glossoptosis, cleft palate), atrial septal defect, persistence of the left superior vena cava and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months. There is evidence this syndrome is caused by mutation in the RBM10 gene on chromosome Xp11.23. |
| | Id | 725911008 | | 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 | 2886 |
| 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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