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oftalmomandibulomelische dysplasie (aandoening)
oftalmomandibulomelische dysplasie
syndroom van Pillay
OMM-syndroom
Ophthalmomandibulomelic dysplasia
OMM (ophthalmomandibulomelic) syndrome
Pillay syndrome
Complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. Micrognathia, shortening and bowing of the forearm, ulnar deviation and bowed radius, short fibula, genu valgum and coxa vara have been reported. Intelligence is normal. The causative gene has not yet been identified. Autosomal dominant inheritance has been suggested.
Id715484003
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van cornea
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