SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/770900000
http://purl.bioontology.org/ontology/SNOMEDCT/770900000
Preferred Name

Familial omphalocele syndrome with facial dysmorphism

Definitions
A rare genetic developmental defect during embryogenesis with characteristics of omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.
Synonyms
Familial omphalocele syndrome with facial dysmorphism (disorder)
Type http://www.w3.org/2002/07/owl#Class
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