From HPO
Aortic aneurysm- MedGen UID:
- 362
- •Concept ID:
- C0003486
- •
- Disease or Syndrome
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 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.
Thoracic aortic aneurysm- MedGen UID:
- 56525
- •Concept ID:
- C0162872
- •
- Anatomical Abnormality
An abnormal localized widening (dilatation) of the thoracic aorta.
Ascending tubular aorta aneurysm- MedGen UID:
- 163631
- •Concept ID:
- C0856747
- •
- Anatomical Abnormality
An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.
Ascending aortic dissection- MedGen UID:
- 322966
- •Concept ID:
- C1836653
- •
- Disease or Syndrome
A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.
Premature coronary artery atherosclerosis- MedGen UID:
- 356830
- •Concept ID:
- C1867743
- •
- Disease or Syndrome
Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.
Descending aortic dissection- MedGen UID:
- 868484
- •Concept ID:
- C4022878
- •
- Disease or Syndrome
A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.
Moyamoya phenomenon- MedGen UID:
- 868764
- •Concept ID:
- C4023169
- •
- Disease or Syndrome
A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis.
Livedo reticularis- MedGen UID:
- 43223
- •Concept ID:
- C0085642
- •
- Disease or Syndrome
Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension.
Iris flocculi- MedGen UID:
- 1393819
- •Concept ID:
- C4477072
- •
- Anatomical Abnormality
Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris.
- Abnormality of the cardiovascular system
- Abnormality of the eye
- Abnormality of the integument