autosomaal dominante hereditaire aandoening	hereditaire ontwikkelingsstoornis	omfalocele	polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk
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omfalocelesyndroom Shprintzen-Goldberg-type (aandoening)
	omfalocelesyndroom Shprintzen-Goldberg-type
	Shprintzen Goldberg omphalocele syndrome
	Omphalocele syndrome Shprintzen Goldberg type
	A very rare inherited malformation syndrome with characteristics of omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.

Id	716230005
Status	Primitive

Associated morphology	morfologische afwijking
Finding site	structuur van aangezicht
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	Q87.0
Term	Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan

SNOMED CT to Orphanet simple map

3164

SNOMED CT to ICD-10 extended map

Target	Q87.0
Rule	TRUE
Advice	ALWAYS Q87.0
Correlation	SNOMED CT source code to target map code correlation not specified