cheilopalatoschisis	genetische aandoening	polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk
\|	\|	\|

syndroom van cheilopalatoschisis, craniofaciale dysmorfie, congenitale hartafwijking en gehoorverlies (aandoening)
	syndroom van cheilopalatoschisis, craniofaciale dysmorfie, congenitale hartafwijking en gehoorverlies
	syndroom van gespleten gehemelte en lip, craniofaciale dysmorfie, congenitale hartafwijking en gehoorverlies hyaluronidase-2-deficiëntie syndroom van gespleten verhemelte en lip, craniofaciale dysmorfie, aangeboren hartafwijking en gehoorverlies
	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.

Id	1187039001
Status	Primitive

Associated morphology	fusiedefect
Finding site	structuur van labium oris
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	fusiedefect
Finding site	structuur van palatum
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

SNOMED CT to Orphanet simple map

508476

SNOMED CT to ICD-10 extended map

Target	Q87.0
Rule	TRUE
Advice	ALWAYS Q87.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified