Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Omphalocele

Synonyms
Definitions

A rare, non-syndromic, abdominal wall malformation characterized by a hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.

ID

http://www.orpha.net/ORDO/Orphanet_660

definition

A rare, non-syndromic, abdominal wall malformation characterized by a hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660

has_age_of_onset

Antenatal

has_inheritance

Not applicable

hasDbXref

ICD-10:Q79.2

ICD-11:LB01

MeSH:D006554

MedDRA:10030308

OMIM:310980

OMIM:164750

UMLS:C0795690

label

Omphalocele

notation

ORPHA:660

part_of

http://www.orpha.net/ORDO/Orphanet_108977

prefixIRI

ORDO:Orphanet_660

prefLabel

Omphalocele

present_in

Malta AND has_point_prevalence_range : 1-5 / 10 000

Germany AND has_point_prevalence_range : 1-5 / 10 000

Germany AND has_birth_prevalence_average_value : 11.6 AND has_birth_prevalence_range : 1-5 / 10 000

Switzerland AND has_birth_prevalence_average_value : 12.3 AND has_birth_prevalence_range : 1-5 / 10 000

Croatia AND has_point_prevalence_range : 1-5 / 10 000

Austria AND has_point_prevalence_range : 1-5 / 10 000

United Kingdom AND has_birth_prevalence_average_value : 11.6 AND has_birth_prevalence_range : 1-5 / 10 000

United States AND has_point_prevalence_range : 1-5 / 10 000

Poland AND has_point_prevalence_range : 1-5 / 10 000

China AND has_birth_prevalence_average_value : 15.2 AND has_birth_prevalence_range : 1-5 / 10 000

Europe AND has_birth_prevalence_average_value : 11.7 AND has_birth_prevalence_range : 1-5 / 10 000

Italy AND has_birth_prevalence_average_value : 11.0 AND has_birth_prevalence_range : 1-5 / 10 000

Malta AND has_birth_prevalence_average_value : 48.2 AND has_birth_prevalence_range : 1-5 / 10 000

Denmark AND has_birth_prevalence_average_value : 19.8 AND has_birth_prevalence_range : 1-5 / 10 000

Czech Republic AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000

Denmark AND has_point_prevalence_range : 1-5 / 10 000

Poland AND has_birth_prevalence_average_value : 12.1 AND has_birth_prevalence_range : 1-5 / 10 000

Ukraine AND has_point_prevalence_range : 1-5 / 10 000

Spain AND has_point_prevalence_range : 1-9 / 100 000

United States AND has_birth_prevalence_average_value : 18.6 AND has_birth_prevalence_range : 1-5 / 10 000

Hungary AND has_birth_prevalence_average_value : 6.6 AND has_birth_prevalence_range : 1-9 / 100 000

Spain AND has_birth_prevalence_average_value : 6.9 AND has_birth_prevalence_range : 1-9 / 100 000

Ireland AND has_birth_prevalence_average_value : 25.3 AND has_birth_prevalence_range : 1-5 / 10 000

Belgium AND has_birth_prevalence_average_value : 14.6 AND has_birth_prevalence_range : 1-5 / 10 000

Italy AND has_point_prevalence_range : 1-5 / 10 000

Austria AND has_birth_prevalence_average_value : 19.6 AND has_birth_prevalence_range : 1-5 / 10 000

Belgium AND has_point_prevalence_range : 1-5 / 10 000

Croatia AND has_birth_prevalence_average_value : 10.9 AND has_birth_prevalence_range : 1-5 / 10 000

Ireland AND has_point_prevalence_range : 1-5 / 10 000

Czech Republic AND has_point_prevalence_range : 1-5 / 10 000

United Kingdom AND has_point_prevalence_range : 1-5 / 10 000

Japan AND has_point_prevalence_range : 1-9 / 100 000

France AND has_point_prevalence_range : 1-5 / 10 000

France AND has_birth_prevalence_average_value : 13.6 AND has_birth_prevalence_range : 1-5 / 10 000

Norway AND has_point_prevalence_range : 1-5 / 10 000

Hungary AND has_point_prevalence_range : 1-9 / 100 000

Netherlands AND has_point_prevalence_range : 1-5 / 10 000

Switzerland AND has_point_prevalence_range : 1-5 / 10 000

Norway AND has_birth_prevalence_average_value : 11.2 AND has_birth_prevalence_range : 1-5 / 10 000

Europe AND has_point_prevalence_range : 1-5 / 10 000

Japan AND has_birth_prevalence_average_value : 6.3 AND has_birth_prevalence_range : 1-9 / 100 000

Ukraine AND has_birth_prevalence_average_value : 16.2 AND has_birth_prevalence_range : 1-5 / 10 000

Netherlands AND has_birth_prevalence_average_value : 22.9 AND has_birth_prevalence_range : 1-5 / 10 000

treeView

http://www.orpha.net/ORDO/Orphanet_108977

subClassOf

http://www.orpha.net/ORDO/Orphanet_557493

http://www.orpha.net/ORDO/Orphanet_377791

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0060327 DOID LOOM
http://purl.obolibrary.org/obo/MP_0003052 MP LOOM
http://purl.obolibrary.org/obo/MONDO_0019015 MONDO LOOM
http://purl.bioontology.org/ontology/ICD9CM/756.72 ICD9CM LOOM
http://purl.obolibrary.org/obo/DOID_0060327 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0060327 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0060327 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060327 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0060327 FNS-H LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98997 NCIT LOOM
http://purl.org/obo/owl/HP#HP_0001539 BDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_551 HRDO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU005345 OMIM LOOM
http://www.gamuts.net/entity#omphalocele GAMUTS LOOM
http://www.phoc.org.cn/pmo/class/PMO_00001359 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10030308 MEDDRA LOOM
http://purl.obolibrary.org/obo/NCIT_C98997 BERO LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1018 IFAR LOOM
http://id.nlm.nih.gov/mesh/D006554 MDM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0795690 OCHV LOOM
http://purl.bioontology.org/ontology/LNC/LA20082-6 LOINC LOOM
http://www.semanticweb.org/mypc/ontologies/2022/11/USBirthOnto-22#Omphalocele BIRTHONTO LOOM
http://purl.obolibrary.org/obo/HP_0001539 HP LOOM
http://purl.obolibrary.org/obo/HP_0001539 UPHENO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Omphalocele CSEO LOOM
http://purl.obolibrary.org/obo/MONDO_0019015 DOVES LOOM
http://purl.obolibrary.org/obo/MP_0003052 CHIRO LOOM
http://www.gamuts.net/entity#omphalocele GAMUTS REST