Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Mucoid extracellular matrix accumulation
Very frequent (80-99%)HP:0200146
Aortic valve regurgitation
Frequent (30-79%)HP:0001659
Ascending aortic dissection
Frequent (30-79%)HP:0004933
Chest pain
Frequent (30-79%)HP:0100749
Coronary disease
Frequent (30-79%)HP:0001677
Dilatation of the descending thoracic aorta
Frequent (30-79%)HP:0004959
Enlarged aortic root
Frequent (30-79%)HP:0002616
Exertional dyspnea
Frequent (30-79%)HP:0002875
Increased heart size
Frequent (30-79%)HP:0001640
Left ventricular impairment
Frequent (30-79%)HP:0005162
Paroxysmal dyspnea
Frequent (30-79%)HP:0012763
PDA
Frequent (30-79%)HP:0001643
Type B aortic dissection
Frequent (30-79%)HP:0012499
Aortic dissection
Occasional (5-29%)HP:0002647
Brain aneurysm
Occasional (5-29%)HP:0004944
Carotid artery dilatation
Occasional (5-29%)HP:0012163
Cerebral vascular events
Occasional (5-29%)HP:0001297
Cutis marmorata
Occasional (5-29%)HP:0000965
Occlusive arterial disease
Occasional (5-29%)HP:0004950
Quick Facts
- SNOMED CT
- 253646008
- UMLS CUI
- C0345050
- Fully Specified Name
- Congenital aneurysm of ascending aorta (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.