|||||||
syndroom van defect van bovenste ledemaat en afwijkingen aan oog en oor (aandoening)
syndroom van defect van bovenste ledemaat en afwijkingen aan oog en oor
syndroom van defect van bovenste ledemaat en oog- en oorafwijkingen
Upper limb defect with eye and ear abnormalities syndrome
This syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. This syndrome has been reported in two siblings. The inheritance is probably autosomal recessive.
Id716110002
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van auris
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