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syndroom van coloboom van uvea, cheilopalatoschisis en verstandelijke beperking (aandoening)
syndroom van coloboom van uvea, cheilopalatoschisis en verstandelijke beperking
syndroom van coloboom van uvea, gespleten gehemelte, gespleten lip en mentale retardatie
syndroom van coloboom van uvea, cheilopalatoschisis en verstandelijke handicap
Uveal coloboma with cleft lip and palate and intellectual disability syndrome
This syndrome is characterized by coloboma of the iris, bilateral cleft lip and palate and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and hematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.
Id719042007
StatusPrimitive
Associated morphologyfusiedefect
Finding sitestructuur van palatum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyfusiedefect
Finding sitestructuur van labium oris
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyfusiedefect
Finding sitestructuur van iris
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyfusiedefect
Finding sitebotstructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ13.0
RuleTRUE
AdviceALWAYS Q13.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ37.9
RuleTRUE
AdviceALWAYS Q37.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9
CorrelationSNOMED CT source code to target map code correlation not specified