Robinow-syndroom (aandoening)
syndroom van Robinow
Robinow syndrome
Acral dysostosis with facial and genital abnormalities
Fetal face syndrome
Robinow Silverman Smith syndrome
A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive.
Associated morphologydysplasie
Finding sitebotstructuur van extremiteit
Pathological processproces van pathologische ontwikkeling
Has interpretationonder referentiebereik
InterpretsLimb length
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map97360
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q87.1
CorrelationSNOMED CT source code to target map code correlation not specified