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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, cheilopalatoschisis en verstandelijke handicap
syndroom van coloboom van uvea, gespleten gehemelte, gespleten lip en mentale retardatie
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
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1473
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