autosomaal dominante hereditaire aandoening
hereditaire ontwikkelingsstoornis
syndactylie
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syndactylie type 5 (aandoening)
syndactylie type 5
syndactylie met osseuze fusie van metacarpalen
post-axiale syndactylie met metacarpale synostose
Syndactyly type 5
A very rare congenital limb malformation with characteristics of postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. So far, less than ten reports have been described in the literature. Soft tissue syndactyly (involving the third and fourth fingers and the second and third toes) may be present. The locus associated with SD5 maps to 2q31-q32. Mutations in the HOXD13 gene may be causative. The condition is inherited as an autosomal dominant trait.
Id719159004
StatusPrimitive
Associated morphologyabnormaal gefuseerde 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
TargetQ70.0
TermBenige vergroeiing van vingers
TargetQ70.2
TermBenige vergroeiing van tenen
SNOMED CT to Orphanet simple map93406
SNOMED CT to ICD-10 extended map
TargetQ70.0
RuleTRUE
AdviceALWAYS Q70.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ70.2
RuleTRUE
AdviceALWAYS Q70.2
CorrelationSNOMED CT source code to target map code correlation not specified