Autosomal dominant hereditary disorder	Congenital omphalocele	Developmental hereditary disorder	Multiple malformation syndrome with facial defects as major feature
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Shprintzen Goldberg omphalocele syndrome (disorder)
	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.
	omfalocelesyndroom Shprintzen-Goldberg-type

Id	716230005
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Hernial opening
Finding site	Umbilical structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Hernia
Finding site	Organ within abdominopelvic cavity
Occurrence	Congenital

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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