Autosomal dominant hereditary disorder
Cleft palate with cleft lip
Congenital coloboma of iris
Developmental hereditary disorder
Genetic intellectual disability
Hereditary disorder of the visual system
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
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment.
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
Has interpretationImpaired
InterpretsIntellectual ability
Has interpretationImpaired
InterpretsAdaptation behavior
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ13.0
TermColoboom van iris
TargetQ37.9
TermNiet gespecificeerd gespleten gehemelte met enkelzijdig gespleten lip
TargetF79.9
TermNiet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen
SNOMED CT to ICD-10 extended map
TargetQ13.8
RuleTRUE
AdviceALWAYS Q13.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified