obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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Aortic ectasia #10316

Closed carolina-f closed 6 months ago

carolina-f commented 7 months ago

Preferred term label: Aortic dilatation (See issue #10315)

Synonyms

Definition (free text, please give PubMed ID) PMID: 20233780 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease Aneurysm (or true aneurysm): a permanent localized dilatation of an artery, having at least a 50% increase in diameter compared with the expected normal diameter of the artery in question. Although all 3 layers (intima, media, and adventitia) may be present, the intima and media in large aneurysms may be so attenuated that in some sections of the wall they are undetectable. Ectasia: arterial dilatation less than 150% of normal arterial diameter.

PMID: 34295712 "The accepted definition for an aneurysm is a permanent focal dilatation of an artery with a ≥50% increase in diameter compared to the expected normal diameter (2,15). Ectasia is defined as arterial dilatation <150% of the normal arterial diameter, while arteriomegaly is diffuse arterial dilatation involving several arterial segments, with an increase in diameter >50% compared to expected. Aortic dilatation is a broader term which encompasses ectasia and aneurysm. True thoracic aortic aneurysms involve all three layers of the aortic wall; 60% affect the aortic root and/or ascending aorta, 40% the descending aorta, 10% the arch, and 10% the thoracoabdominal aorta. Aneurysms may be fusiform or saccular in morphology"

doi: 10.1016/j.ijcha.2015.01.009 "Published data on arteries diameter in healthy population are often scant or variable because of different imaging modalities used for measurement. Nevertheless, by common convention, aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 50% of predicted (ratio of observed to expected diameter ≥1.5). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50% of normal aorta diameter."

Parent term (use hpo.jax.org/app) Aortic dilatation (See issue #10315)

Diseases characterized by this term ? (e.g. Orphanet or OMIM number) ORPHA:60030 Loeys-Dietz syndrome ORPHA:558 Marfan syndrome ORPHA:881 Turner syndrome

Your nano-attribution (ORCID) 0009-0005-6714-5727

pnrobinson commented 6 months ago

Same comment as for https://github.com/obophenotype/human-phenotype-ontology/issues/10315