A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure. [ NCIT:C98818 ]
Synonyms: congenital atresia of aortic valve aortic valve atresia aortic valve atresia (disease) congenital aortic valve atresia
Term information
- icd11.foundation:1700740306 (https://orcid.org/0000-0001-5208-3432)
- MedDRA:10066801 (Orphanet:95448/e)
- MEDGEN:451016 (MONDO:equivalentTo)
- NCIT:C98818 (MONDO:equivalentTo)
- GARD:19260 (MONDO:GARD)
- UMLS:C0265843 (MONDO:equivalentTo)
- HP:0010883 (MONDO:otherHierarchy)
- Orphanet:95448 (MONDO:equivalentTo)
- SCTID:51442005 (MONDO:equivalentTo)
gard_rare, ordo_subtype_of_a_disorder, rare, nord_rare
http://purl.obolibrary.org/obo/NCIT_C98818
http://linkedlifedata.com/resource/umls/id/C0265843
http://www.orpha.net/ORDO/Orphanet_95448
http://identifiers.org/medgen/451016
http://identifiers.org/snomedct/51442005