Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder) | | 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. | | syndroom van Pierre-Robin-sequentie, congenitaal hartdefect en talipes equinovarus | | TARP-syndroom talipes equinovarus-atriumseptumdefect-Robin-sequentie-persisterende linker vena cava superior-syndroom
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| Id | 725911008 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | 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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