[X] familial atrioventricular septal defect
Go to external page http://purl.obolibrary.org/obo/MONDO_0020290
A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves. [ MESH:D004694 ]
Synonyms: Atrioventricular Septal Defect
Term information
- ICD9:745.60 (MONDO:i2s)
- NCIT:C101029 (MONDO:equivalentTo)
- ICD9:745.69 (MONDO:relatedTo)
- Orphanet:98722 (MONDO:equivalentTo)
- OMIMPS:606215 (https://orcid.org/0000-0002-6601-2165)
- ICD9:745.6 (DOID:0050651)
- DOID:0050651 (MONDO:equivalentTo)
- GARD:802 (MONDO:GARD)
- NORD:821 (MONDO:NORD)
- SCTID:15459006 (MONDO:equivalentTo)
matrix_llm__is_cancer_other, gard_rare, disease_grouping, mondo_top_grouping_member, matrix_llm__txgnn_other, nord_rare, matrix_txgnn_grouping_member, rare, mondo_top_grouping_cardiovascular_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_excluded, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_txgnn_grouping_cardiovascular_disorder, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_cardiovascular_disorder, harrisons_view_member, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, ordo_group_of_disorders
http://purl.obolibrary.org/obo/NCIT_C101029
http://identifiers.org/snomedct/15459006
https://omim.org/phenotypicSeries/PS606215
http://purl.obolibrary.org/obo/DOID_0050651
http://www.orpha.net/ORDO/Orphanet_98722
atrioventricular canal defect
common AV canal
common atrioventricular canal
endocardial cushion defect
ECD
AVSD
AVCD
AV septal defect
atrioventricular septal defect