Experimental Factor Ontology - gastroschisis - Classes | NCBO BioPortal

Experimental Factor Ontology

Last uploaded: January 16, 2025

Id	http://www.ebi.ac.uk/efo/EFO_1000949 http://www.ebi.ac.uk/efo/EFO_1000949
Preferred Name	gastroschisis
Definitions	A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM. Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated.
Synonyms	abdominal wall defects congenital fissure of the abdominal cavity eventration laparoschisis Gastroschisis (disorder) Gastroschisis gastroschisis
Type	http://www.w3.org/2002/07/owl#Class

definition	A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM. Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated.
preferred label	gastroschisis
label	gastroschisis
prefLabel	gastroschisis
exactMatch	http://identifiers.org/snomedct/72951007 http://www.orpha.net/ORDO/Orphanet_2368 http://purl.obolibrary.org/obo/DOID_11044 http://purl.obolibrary.org/obo/NCIT_C84725 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/551758329 http://identifiers.org/medgen/82721 http://identifiers.org/mesh/D020139 http://linkedlifedata.com/resource/umls/id/C0265706 https://omim.org/entry/230750 http://purl.bioontology.org/ontology/ICD10CM/Q79.3 http://www.ebi.ac.uk/efo/EFO_1000949 See more See less
database_cross_reference	NCIT:C84725 UMLS:C0265706 OMIM:230750 Orphanet:2368 MEDGEN:82721 MONDO:0009264 ICD10CM:Q79.3 icd11.foundation:551758329 ICD9:756.73 MeSH:D020139 NCIt:C84725 SCTID:72951007 MESH:D020139 SNOMEDCT:72951007 MedDRA:10018046 DOID:11044 GARD:8661 NORD:1176 See more See less
notation	EFO:1000949
in_subset	http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#ordo_morphological_anomaly http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare See more See less
term editor	Sirarat Sarntivijai
has_related_synonym	abdominal wall defects congenital fissure of the abdominal cavity
id	EFO:1000949
see also	https://rarediseases.info.nih.gov/diseases/8661/gastroschisis
subClassOf	http://www.ebi.ac.uk/efo/EFO_0000508 http://purl.obolibrary.org/obo/MONDO_0100298
closeMatch	http://identifiers.org/meddra/10018046
type	http://www.w3.org/2002/07/owl#Class
has_broad_synonym	eventration
has_exact_synonym	laparoschisis Gastroschisis (disorder) Gastroschisis gastroschisis

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