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syndroom van doofheid met malformatie van oor en faciale paralyse (aandoening)
syndroom van doofheid met malformatie van oor en faciale paralyse
Sellars Beighton syndrome
Deafness with malformation of ear and facial palsy syndrome
This syndrome has characteristics of profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three siblings and their mother. Inheritance is autosomal dominant.
Id716243005
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van auris
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
InterpretsMovement
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0
CorrelationSNOMED CT source code to target map code correlation not specified