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Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder)
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, deafness syndrome
Hyaluronidase 2 deficiency
A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability with characteristics of unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma) and conductive or sensorineural hearing loss.
syndroom van cheilopalatoschisis, craniofaciale dysmorfie, congenitale hartafwijking en gehoorverlies
hyaluronidase-2-deficiƫntie
syndroom van gespleten verhemelte en lip, craniofaciale dysmorfie, aangeboren hartafwijking en gehoorverlies
syndroom van gespleten gehemelte en lip, craniofaciale dysmorfie, congenitale hartafwijking en gehoorverlies
Id1187039001
StatusPrimitive
Associated morphologyDevelopmental failure of fusion
Finding siteLip structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDevelopmental failure of fusion
Finding sitePalatal structure
OccurrenceCongenital
Pathological processPathological developmental process
ICD-10 complex map reference set
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified