autosomaal recessieve hereditaire aandoening	hereditaire ontwikkelingsstoornis	omfalocele	palatoschisis
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syndroom van letale omfalocele en palatoschisis (aandoening)
	syndroom van letale omfalocele en palatoschisis
	Czeizel-syndroom syndroom van Czeizel
	Lethal omphalocele with cleft palate syndrome
	Czeizel syndrome
	Syndrome with the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. This syndrome is likely to be inherited as an autosomal recessive condition.

Id	719408007
Status	Primitive

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

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

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

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q79.2
Term	Exomphalos

SNOMED CT to Orphanet simple map

2736

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