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syndroom van fibulo-ulnaire hypoplasie en afwijkingen van nier (aandoening)
syndroom van fibulo-ulnaire hypoplasie en afwijkingen van nier
syndroom van fibulo-ulnaire hypoplasie en renale afwijkingen
syndroom van Saito-Kuba-Tsuruta
Saito-Kuba-Tsuruta-syndroom
Saito Kuba Tsuruta syndrome
Fibuloulnar hypoplasia with renal abnormalities
Fibulo-ulnar hypoplasia and renal anomalies syndrome
This syndrome has features of fibuloulnar dysostosis with renal anomalies. It has been described in two siblings born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.
Id716094008
StatusPrimitive
Associated morphologyhypoplasie
Finding sitebotstructuur van ulna
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitebotstructuur van fibula
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van nier
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified