polydactylie
polymalformatief syndroom met defect van extremiteit als voornaamst kenmerk
||
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.
Id715523005
StatusPrimitive
Associated morphologyaccessoire structuur
Finding sitestructuur van digitus van hand of voet
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2
CorrelationSNOMED CT source code to target map code correlation not specified