Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
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Preferred Name

Atrioventricular septal defect
Synonyms

AVSD

Atrioventricular canal defect
ID

http://www.orpha.net/ORDO/Orphanet_98722
alternative_term

AVSD

Atrioventricular canal defect
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98722
hasDbXref

OMIM:614474

MeSH:C562831

OMIM:606215

OMIM:606217

MedDRA:10063836

OMIM:600309

ICD-10:Q21.2

OMIM:614430

UMLS:C1389018

OMIM:615779

ICD-11:LA87.4
label

Atrioventricular septal defect
notation

ORPHA:98722

Clinical group
prefixIRI

ORDO:Orphanet_98722
prefLabel

Atrioventricular septal defect
subClassOf

http://www.orpha.net/ORDO/Orphanet_98720

http://www.orpha.net/ORDO/Orphanet_557492

http://www.orpha.net/ORDO/Orphanet_271853
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0859565 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0050651 DOID LOOM
http://purl.bioontology.org/ontology/MESH/C562831 MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10063836 MEDDRA LOOM
http://purl.obolibrary.org/obo/MONDO_0020290 DOVES LOOM
http://purl.obolibrary.org/obo/DOID_0050651 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050651 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050651 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0050651 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050651 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0050651 FNS-H LOOM
http://purl.jp/bio/4/id/200906052749727574 IOBC LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q21.2 NLMVS LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q21.2 ICD10CM LOOM
http://purl.obolibrary.org/obo/NCIT_C101029 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Atrioventricular_Septal_Defect CSEO LOOM
http://homes.esat.kuleuven.be/~bioiuser/chdwiki/index.php/CHDEPCC:060600 CHD LOOM
http://purl.bioontology.org/ontology/OMIM/606215 OMIM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0344783 OCHV LOOM
http://purl.obolibrary.org/obo/MP_0010412 MP LOOM
http://purl.obolibrary.org/obo/MP_0010412 UPHENO LOOM
http://purl.obolibrary.org/obo/MP_0010412 CHIRO LOOM
http://purl.bioontology.org/ontology/ICD10/Q21.2 ICD10 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU041724 OMIM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C101029 NCIT LOOM
http://purl.obolibrary.org/obo/ICDO_0000576 ICDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C562831 RH-MESH LOOM