autosomaal recessieve hereditaire aandoening	choanale atresie	congenitale afwijking van schedel	hereditaire aandoening van bewegingsapparaat	hereditaire aandoening van spijsverteringsstelsel	hereditaire ontwikkelingsstoornis	polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk
\|	\|	\|	\|	\|	\|	\|

syndroom van choanale atresie, gehoorverlies, hartdefect en craniofaciale dysmorfie (aandoening)
	syndroom van choanale atresie, gehoorverlies, hartdefect en craniofaciale dysmorfie
	syndroom van Burn-McKeown
	Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome
	Burn McKeown syndrome
	An extremely rare multiple congenital anomaly syndrome with characteristics of bilateral choanal atresia associated with cranio-facial dysmorphism, that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlap considerably with those of the CHARGE syndrome.

Id	720640005
Status	Primitive

Associated morphology	morfologische afwijking
Finding site	botstructuur van cranium
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	atresie
Finding site	structuur van choana
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

SNOMED CT to Orphanet simple map

1200

SNOMED CT to ICD-10 extended map

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified