Autosomal dominant hereditary disorder
Bicuspid aortic valve
Cardiovascular system hereditary disorder
Developmental hereditary disorder
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Familial bicuspid aortic valve (disorder)
Familial bicuspid aortic valve
Familial BAV (bicuspid aortic valve)
A rare genetic aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (such as aortic dilation, aortic aneurysm and/or dissection).
familiaire bicuspide aortaklep
familiaire BAV
Id770435005
StatusPrimitive
Associated morphologyCongenital abnormal number
Finding siteStructure of cusp of aortic valve
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ23.1
RuleTRUE
AdviceALWAYS Q23.1
CorrelationSNOMED CT source code to target map code correlation not specified
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Bicuspid aortic valve-associated aortopathy