polydactylie
polymalformatief syndroom met defect van extremiteit als voornaamst kenmerk
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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
A rare disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was 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 Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.2
TermCongenitale gestoorde-ontwikkelingssyndromen van hoofdzakelijk extremiteiten
SNOMED CT to Orphanet simple map3004
SNOMED CT to ICD-10 extended map
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified