| syndroom van tibiale hemimelie, polysyndactylie en trifalangeale digitus I (aandoening) | | syndroom van tibiale hemimelie, polysyndactylie en trifalangeale digitus I | | syndroom van tibiale hemimelie, polysyndactylie en trifalangeale duim
| | Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome | | Absent tibia polydactyly syndrome
| | A rare genetic dysostosis syndrome with marked inter and intra-familial variation with typical characteristics of triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones. |
| | Id | 764857004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.2 | | Term | Congenitale gestoorde-ontwikkelingssyndromen van hoofdzakelijk extremiteiten |
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| SNOMED CT to Orphanet simple map | 988 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.2 | | Rule | TRUE | | Advice | ALWAYS Q87.2 | 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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