syndroom van symmetrische polydactylie, vertebrale segmentatie en extremiteitsdefect (aandoening) | | syndroom van symmetrische polydactylie, vertebrale segmentatie en extremiteitsdefect | | Mirror polydactyly, vertebral segmentation and limb defect syndrome | | Rare syndrome with manifestations of mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus also reported. So far, it has been described in four unrelated infants, it is suggested that the syndrome is caused by defective expression of a developmental control gene. |
| Id | 715523005 | Status | Primitive |
DHD Diagnosethesaurus-referentieset |
referentieset met complexe 'mapping' naar ICD-10 | Target | Q87.2 | Rule | TRUE | Advice | ALWAYS Q87.2 | Correlation | SNOMED CT source code to target map code correlation not specified |
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