Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Esophageal atresia

Synonyms

Esophageal atresia with or without trachea-esophageal fistula

Definitions

A rare congenital malformation characterized by an interruption in the continuity of the esophagus, with or without persistent communication with the trachea. The clinical presentation varies according to the anatomy, and can lead to the inability to swallow or, in the most severe cases, respiratory distress.

ID

http://www.orpha.net/ORDO/Orphanet_1199

alternative_term

Esophageal atresia with or without trachea-esophageal fistula

CEA

Oesophageal atresia

Congenital esophageal atresia

EA/TEF

definition

A rare congenital malformation characterized by an interruption in the continuity of the esophagus, with or without persistent communication with the trachea. The clinical presentation varies according to the anatomy, and can lead to the inability to swallow or, in the most severe cases, respiratory distress.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1199

has_age_of_onset

Neonatal

has_inheritance

Not applicable

hasDbXref

UMLS:C0014850

ICD-10:Q39.0

MeSH:D004933

ICD-11:LB12.1

OMIM:189960

ICD-10:Q39.1

MedDRA:10030146

label

Esophageal atresia

notation

ORPHA:1199

part_of

http://www.orpha.net/ORDO/Orphanet_108959

prefixIRI

ORDO:Orphanet_1199

prefLabel

Esophageal atresia

present_in

Denmark AND has_birth_prevalence_average_value : 42.5 AND has_birth_prevalence_range : 1-5 / 10 000

Hungary AND has_birth_prevalence_average_value : 26.6 AND has_birth_prevalence_range : 1-5 / 10 000

United States AND has_birth_prevalence_average_value : 21.0 AND has_birth_prevalence_range : 1-5 / 10 000

Portugal AND has_birth_prevalence_average_value : 18.9 AND has_birth_prevalence_range : 1-5 / 10 000

Poland AND has_birth_prevalence_average_value : 9.7 AND has_birth_prevalence_range : 1-9 / 100 000

Belgium AND has_birth_prevalence_average_value : 17.5 AND has_birth_prevalence_range : 1-5 / 10 000

Italy AND has_birth_prevalence_average_value : 18.4 AND has_birth_prevalence_range : 1-5 / 10 000

Norway AND has_birth_prevalence_average_value : 34.4 AND has_birth_prevalence_range : 1-5 / 10 000

Ukraine AND has_birth_prevalence_average_value : 22.3 AND has_birth_prevalence_range : 1-5 / 10 000

Malta AND has_birth_prevalence_average_value : 24.9 AND has_birth_prevalence_range : 1-5 / 10 000

Ireland AND has_birth_prevalence_average_value : 10.8 AND has_birth_prevalence_range : 1-5 / 10 000

France AND has_birth_prevalence_average_value : 11.8 AND has_birth_prevalence_range : 1-5 / 10 000

Croatia AND has_birth_prevalence_average_value : 11.4 AND has_birth_prevalence_range : 1-5 / 10 000

Netherlands AND has_birth_prevalence_average_value : 17.1 AND has_birth_prevalence_range : 1-5 / 10 000

Switzerland AND has_birth_prevalence_average_value : 25.1 AND has_birth_prevalence_range : 1-5 / 10 000

Germany AND has_birth_prevalence_average_value : 23.8 AND has_birth_prevalence_range : 1-5 / 10 000

Europe AND has_birth_prevalence_average_value : 24.3 AND has_birth_prevalence_range : 1-5 / 10 000

Spain AND has_birth_prevalence_average_value : 15.7 AND has_birth_prevalence_range : 1-5 / 10 000

United Kingdom AND has_birth_prevalence_average_value : 22.4 AND has_birth_prevalence_range : 1-5 / 10 000

Europe AND has_point_prevalence_range : 1-5 / 10 000

Austria AND has_birth_prevalence_average_value : 19.5 AND has_birth_prevalence_range : 1-5 / 10 000

treeView

http://www.orpha.net/ORDO/Orphanet_108959

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/MP_0003276 MP LOOM
http://purl.obolibrary.org/obo/DOID_10485 DOID LOOM
http://purl.obolibrary.org/obo/HP_0002032 EFO LOOM
http://purl.obolibrary.org/obo/HP_0002032 HP LOOM
http://purl.obolibrary.org/obo/MP_0003276 MP LOOM
http://purl.obolibrary.org/obo/DOID_10485 DOID LOOM
rgo:22477 GAMUTS LOOM
rgo:22477 GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0001044 MONDO LOOM
http://purl.obolibrary.org/obo/OMIT_0006164 OMIT LOOM
http://purl.jp/bio/4/id/200906053985395287 IOBC LOOM
http://purl.obolibrary.org/obo/HP_0002032 HP LOOM
http://purl.obolibrary.org/obo/HP_0002032 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0003276 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0003276 CHIRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.405.117.260 RH-MESH LOOM
http://www.gamuts.net/entity#esophageal_atresia GAMUTS LOOM
http://purl.obolibrary.org/obo/NCIT_C87072 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Esophageal_Atresia CSEO LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1036 IFAR LOOM
http://purl.obolibrary.org/obo/DOID_10485 BAO LOOM
http://purl.obolibrary.org/obo/DOID_10485 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_10485 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_10485 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_10485 FNS-H LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU011564 OMIM LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Esophageal_Atresia PEDTERM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036520 PMAPP-PMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C87072 NCIT LOOM
http://purl.bioontology.org/ontology/MESH/D004933 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.198.330 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_10485 NATPRO LOOM
http://purl.obolibrary.org/obo/MONDO_0001044 DOVES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D004933 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D004933 MDM LOOM
http://www.limics.org/hrdo/rdfns#pat_id_724 HRDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0014850 OCHV LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Esophageal_atresia RPO LOOM
http://purl.org/obo/owl/HP#HP_0002032 BDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#4648 OCHV LOOM
http://purl.bioontology.org/ontology/MEDDRA/10055460 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.314.330 RH-MESH LOOM
http://www.gamuts.net/entity#esophageal_atresia GAMUTS REST
http://www.gamuts.net/entity#esophageal_atresia GAMUTS REST
http://www.gamuts.net/entity#esophageal_atresia GAMUTS REST