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syndroom van choanale atresie met hypoplasie van radius (aandoening)
syndroom van choanale atresie met hypoplasie van radius
syndroom van Goldblatt-Viljoen
Choanal atresia with radial ray hypoplasia
Goldblatt Viljoen syndrome
An extremely rare syndrome with characteristics of radial ray hypoplasia, choanal atresia and convergent strabismus. It has been reported in a father and his two daughters. The radial ray involvement varies from absent radius, first metacarpal and thumb to hypoplastic thumb or triphalangeal thumb. Transmitted as an autosomal dominant trait.
Id232373003
StatusPrimitive
Associated morphologydeformiteit
Finding sitestructuur van uitwendige neus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyatresie
Finding sitestructuur van choana
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ30.0
RuleTRUE
AdviceALWAYS Q30.0
CorrelationSNOMED CT source code to target map code correlation not specified