Medical Subject Headings

Last uploaded: January 31, 2024
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Preferred Name

Atrioventricular Septal Defect
Synonyms

Atrioventricular Canal Defect
ID

http://purl.bioontology.org/ontology/MESH/C562831
altLabel

Atrioventricular Canal Defect

AVSD

AVC Defect
cui

C1389016

C1389018
HM

D006343
Inverse of RB

0
Mapped to

http://purl.bioontology.org/ontology/MESH/D006343
MDA

20121105
MeSH Frequency

326
MMR

20150817
notation

C562831
prefLabel

Atrioventricular Septal Defect
SC

3
Scope Statement

A range of congenital heart septal defects characterized by both a common atrioventricular junction and deficient atrioventricular septation. Germline mutations in the COL6A1, COL6A2, and CRELD1 genes have been identified. OMIM: 606215
TERMUI

T824834

T801606

T000882715

T802471
TH

OMIM (2013)
tui

T019

T190
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/Q21.2 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRGER/10063836 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/606215 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU045882 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/MTHU057745 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10063836 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/X77wc RCD CUI
http://purl.bioontology.org/ontology/OMIM/MTHU065555 OMIM CUI
http://purl.bioontology.org/ontology/ICD10CM/Q21.2 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10063836 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/606215 OMIM CUI
http://purl.bioontology.org/ontology/ICD10/Q21.2 ICD10 CUI
http://purl.bioontology.org/ontology/OMIM/MTHU041724 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/253414002 SCTSPA CUI
http://purl.obolibrary.org/obo/DOID_0050651 DOID LOOM
http://purl.obolibrary.org/obo/MP_0010412 MP LOOM
http://purl.obolibrary.org/obo/MONDO_0859565 MONDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10063836 MEDDRA LOOM
http://www.orpha.net/ORDO/Orphanet_98722 ORDO 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 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 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