| syndroom van syndactylie, telecanthus en anogenitale en renale malformatie (aandoening) | | syndroom van syndactylie, telecanthus en anogenitale en renale malformatie | | syndactylie-telecanthus-anogenitale en renale malformatie-syndroom
STAR-syndroom
| | STAR syndrome | | Syndactyly, telecanthus, anogenital and renal malformation syndrome
STAR (syndactyly, telecanthus, anogenital, renal malformation) syndrome
| | Syndrome with the association of toe syndactyly, facial dysmorphism including telecanthus and a broad nasal tip, urogenital malformations and anal atresia. Around ten cases have been reported so far. The syndrome is caused by mutations in the FAM58A gene (located on the X chromosome) encoding a protein of unknown function. |
| | Id | 723581006 | | 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 | 140952 |
| 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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