Familial BAV (bicuspid aortic valve)

disorder

SNOMED 770435005CUI C4749284

Overview

Familial BAV (bicuspid aortic valve) is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Bicuspid aortic valve

Always present (100%)HP:0001647

Aortic coarctation

Very frequent (80-99%)HP:0001680

Aortic stenosis

Very frequent (80-99%)HP:0001650

Aortic valve calcification

Very frequent (80-99%)HP:0004380

Aortic valve regurgitation

Very frequent (80-99%)HP:0001659

Cardiac murmur

Very frequent (80-99%)HP:0030148

Thoracic aorta calcification

Very frequent (80-99%)HP:0004962

Dilatation of the aortic arch

Frequent (30-79%)HP:0005113

High blood pressure

Frequent (30-79%)HP:0000822

Abnormality of the left ventricular outflow tract

Very rare (1-4%)HP:0011103

Ascending aortic dissection

Very rare (1-4%)HP:0004933

Hypoplastic left heart

Very rare (1-4%)HP:0004383

Related Conditions

Bicuspid aortic valve-associated aortopathy(child)

Autosomal dominant hereditary disorder(parent)

Bicuspid aortic valve(parent)

Cardiovascular system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 770435005
UMLS CUI: C4749284
Fully Specified Name: Familial bicuspid aortic valve (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.