From HPO
Hamartomatous polyposis- MedGen UID:
- 474435
- •Concept ID:
- C3272802
- •
- Disease or Syndrome
Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture.
Juvenile gastrointestinal polyposis- MedGen UID:
- 1813073
- •Concept ID:
- C5700079
- •
- Disease or Syndrome
The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps.
Clubbing- MedGen UID:
- 57692
- •Concept ID:
- C0149651
- •
- Anatomical Abnormality
Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
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.
Mitral regurgitation- MedGen UID:
- 7670
- •Concept ID:
- C0026266
- •
- Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Mitral valve prolapse- MedGen UID:
- 7671
- •Concept ID:
- C0026267
- •
- Disease or Syndrome
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
Stroke disorder- MedGen UID:
- 52522
- •Concept ID:
- C0038454
- •
- Disease or Syndrome
Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.
Aortic dissection- MedGen UID:
- 83315
- •Concept ID:
- C0340643
- •
- Disease or Syndrome
Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.
Hepatic arteriovenous malformation- MedGen UID:
- 101044
- •Concept ID:
- C0520557
- •
- Congenital Abnormality
A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures in the liver.
Cerebral arteriovenous malformation- MedGen UID:
- 214590
- •Concept ID:
- C0917804
- •
- Congenital Abnormality
Arteriovenous malformations of the brain are tortuous, morphologically abnormal vascular channels between arteries and veins that lack an intervening capillary network, allowing high-pressure arterial blood from feeding arteries to shunt directly into the venous outflow system. These vascular malformations occur in approximately 15 per 100,000 persons and are a leading cause of hemorrhagic stroke in young adults and children (summary by Nikolaev et al., 2018).
Pulmonary arteriovenous malformation- MedGen UID:
- 341826
- •Concept ID:
- C1857690
- •
- Anatomical Abnormality
Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins.
Hematochezia- MedGen UID:
- 5481
- •Concept ID:
- C0018932
- •
- Disease or Syndrome
The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.
Gastrointestinal carcinoma- MedGen UID:
- 57467
- •Concept ID:
- C0151544
- •
- Neoplastic Process
A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Epistaxis- MedGen UID:
- 4996
- •Concept ID:
- C0014591
- •
- Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
Telangiectasia- MedGen UID:
- 21088
- •Concept ID:
- C0039446
- •
- Finding
Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.
- Abnormality of blood and blood-forming tissues
- Abnormality of limbs
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the integument
- Neoplasm