Autosomal dominant hereditary disorder
Cleft palate with cleft lip
Congenital coloboma of iris
Developmental hereditary disorder
Digestive system hereditary disorder
Hereditary disorder of the visual system
Intellectual disability
Multiple system malformation syndrome
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Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder)
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.
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
Id719042007
StatusPrimitive
Associated morphologyDevelopmental failure of fusion
Finding sitePalatal structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDevelopmental failure of fusion
Finding siteLip structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDevelopmental failure of fusion
Finding siteIris structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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