Preferred Name

Atrioventricular Septal Defect
Synonyms
Definitions

A congenital heart malformation characterized by abnormalities in the anatomic structures that relate to the endocardial cushions. These abnormalities can include defects in the lower part of the atrial septum and the ventricular septum and lack of separation of the mitral and tricuspid valves.

ID

http://purl.obolibrary.org/obo/NCIT_C101029

code

C101029

Contributing_Source

Cellosaurus

NICHD

definition

A congenital heart malformation characterized by abnormalities in the anatomic structures that relate to the endocardial cushions. These abnormalities can include defects in the lower part of the atrial septum and the ventricular septum and lack of separation of the mitral and tricuspid valves.

in_subset

http://purl.obolibrary.org/obo/NCIT_C90259

http://purl.obolibrary.org/obo/NCIT_C165258

http://purl.obolibrary.org/obo/NCIT_C99147

label

Atrioventricular Septal Defect

Preferred_Name

Atrioventricular Septal Defect

prefixIRI

NCIT:C101029

prefLabel

Atrioventricular Septal Defect

Semantic_Type

Disease or Syndrome

UMLS_CUI

C4230922

subClassOf

http://purl.obolibrary.org/obo/NCIT_C84482

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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://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 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://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