cleidorhizomelic syndrome (aandoening)
cleidorhizomelic syndrome
syndroom van Wallis-Zieff-Goldblatt
Cleidorhizomelic syndrome
Wallis Zieff Goldblatt syndrome
Rhizomelic shortness with clavicular defect
A rhizo-mesomelic dysplasia with characteristics of rhizomelic short stature in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. The syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.
Associated morphologydysplasie
Finding sitebotstructuur
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
AdviceALWAYS Q77.8
CorrelationSNOMED CT source code to target map code correlation not specified