Multiple malformation syndrome with limb defect as major feature
Polydactyly
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Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)
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.
syndroom van symmetrische polydactylie, vertebrale segmentatie en extremiteitsdefect
Id715523005
StatusPrimitive
Associated morphologySupernumerary structure
Finding siteDigit structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2
CorrelationSNOMED CT source code to target map code correlation not specified