cleidorhizomelic syndrome (aandoening)
cleidorhizomelic syndrome
syndroom van Wallis-Zieff-Goldblatt
Cleidorhizomelic syndrome
Rhizomelic shortness with clavicular defect
Wallis Zieff Goldblatt syndrome
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 van extremiteit
Pathological processproces van pathologische ontwikkeling
Has interpretationonder referentiebereik
InterpretsLimb length
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde vormen van osteochondrodysplasie met groeistoornissen van pijpbeenderen en wervelkolom
SNOMED CT to Orphanet simple map1453
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q77.8
CorrelationSNOMED CT source code to target map code correlation not specified