Medical Imaging and Diagnostic Ontology

Last uploaded: April 25, 2022
Preferred Name

atrioventricular septal defect
Synonyms

AVCD

ECD

AVSD

atrioventricular canal defect

endocardial cushion defect

Definitions

A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. Xref MGI. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_0050651

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

database_cross_reference

UMLS_CUI:C0014116

MESH:D004694

ICD10CM:Q21.2

OMIM:600309

OMIM:614430

OMIM:606215

ORDO:98722

SNOMEDCT_US_2021_09_01:204322008

GARD:802

OMIM:614474

ICD9CM:745.6

definition

A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.

Xref MGI. OMIM mapping confirmed by DO. [SN].

has_exact_synonym

AVCD

ECD

AVSD

atrioventricular canal defect

endocardial cushion defect

has_obo_namespace

disease_ontology

IAO_0000115

A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.

id

DOID:0050651

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

atrioventricular septal defect

notation

DOID:0050651

note

A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs.

Xref MGI. OMIM mapping confirmed by DO. [SN].

prefLabel

atrioventricular septal defect

subClassOf

http://purl.obolibrary.org/obo/DOID_1681

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Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0050651 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0050651 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050651 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050651 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_0050651 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0050651 FNS-H SAME_URI
http://www.orpha.net/ORDO/Orphanet_98722 ORDO LOOM
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 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