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8q13-microdeletiesyndroom (aandoening)
8q13-microdeletiesyndroom
syndroom van Verloes-David
monosomie 8q13
8q13 microdeletion syndrome
Mesomelic dysplasia with acral synostoses Verloes David Pfeiffer type
Mesomelia synostoses syndrome Verloes David Pfeiffer type
Verloes David syndrome
Monosomy 8q13
A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome. The characteristics of this syndrome are progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect and ureteral anomalies. To date 5 unrelated patients have been reported, including one family with multiple affected persons. This syndrome is due to a non-recurrent microdeletion in 8q13. All patients have a deletion of two contiguous genes: SULF1 and SLCO5A1. Transmitted as an autosomal dominant trait.
Id724147004
StatusPrimitive
Associated morphologydeletie van lange arm
Finding sitechromosomenpaar 8
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 8
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5
CorrelationSNOMED CT source code to target map code correlation not specified