autosomaal dominante hereditaire aandoening	congenitale afwijking van darm	hereditaire aandoening van spijsverteringsstelsel	hereditaire ontwikkelingsstoornis	omfalocele	polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk
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familiale omfalocelesyndroom met faciale dysmorfie (aandoening)
	familiale omfalocelesyndroom met faciale dysmorfie
	Familial omphalocele syndrome with facial dysmorphism
	Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.

Id	770900000
Status	Primitive

Associated morphology	breukpoort
Finding site	structuur van umbilicus
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	morfologische afwijking
Finding site	structuur van aangezicht
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	herniatie
Finding site	structuur van abdominopelviene holte en/of inhoud
Occurrence	congenitaal

Associated morphology	protrusie
Finding site	structuur van intestinum
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.8
Term	Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd

SNOMED CT to Orphanet simple map

280403

SNOMED CT to ICD-10 extended map

Target	Q79.2
Rule	TRUE
Advice	ALWAYS Q79.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified