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syndroom van trifalangeale digitus I en polysyndactylie (aandoening)
syndroom van trifalangeale digitus I en polysyndactylie
syndroom van trifalangeale duim en polysyndactylie
Triphalangeal thumb and polysyndactyly syndrome
A hand-foot malformation with characteristics of triphalangeal thumbs and pre and postaxial polydactyly, isolated syndactyly or complex polysyndactyly. It has been described in some large pedigrees. Clinical presentation is variable within families, ranging from mild to severe. Malformations of the feet are usually less severe than those of the hands. Caused by duplication encompassing the limb-specific regulatory element (ZRS) of sonic hedgehog SHH, which lies in intron 5 of the limb region 1 homolog gene, LMBR1 (7q36). This syndrome is transmitted in an autosomal dominant manner with complete penetrance and variable expression.
Id719950001
StatusPrimitive
DHD Diagnosethesaurus-referentieset
referentieset met complexe door RIVM geautoriseerde nationale 'mapping' naar ICD-10 voor diagnosethesaurus
TargetQ74.8
TermOverige gespecificeerde congenitale misvormingen van extremiteit(en)
referentieset met complexe 'mapping' naar ICD-10
TargetQ74.8
RuleTRUE
AdviceALWAYS Q74.8
CorrelationSNOMED CT source code to target map code correlation not specified