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Items: 13

1.

Thrombosis

The formation or presence of a thrombus (blood clot) inside a blood vessel. [from NCI]

MedGen UID:
21160
Concept ID:
C0040053
Pathologic Function
2.

Venous thrombosis

MedGen UID:
776553
Concept ID:
C0517555
Finding
3.

Recurrent deep vein thrombosis

Repeated episodes of the formation of a blot clot in a deep vein. [from HPO]

MedGen UID:
505704
Concept ID:
CN004295
Finding
4.

Hypercoagulability

MedGen UID:
463623
Concept ID:
C3160733
Finding
5.

Recurrent deep vein thrombosis

Repeated episodes of the formation of a blot clot in a deep vein. [from HPO]

MedGen UID:
319764
Concept ID:
C1735901
Disease or Syndrome; Pathologic Function
6.

Thrombophilia

Prothrombin-related thrombophilia is characterized by venous thromboembolism (VTE) manifest most commonly in adults as deep-vein thrombosis (DVT) in the legs or pulmonary embolism. The clinical expression of prothrombin-related thrombophilia is variable; many individuals heterozygous or homozygous for the 20210G>A (G20210A or c.*97G>A) allele in F2 never develop thrombosis, and while most heterozygotes who develop thrombotic complications remain asymptomatic until adulthood, some have recurrent thromboembolism before age 30 years. The relative risk for DVT in adults heterozygous for the 20210G>A allele is two- to fivefold increased; in children, the relative risk for thrombosis is three- to fourfold increased. 20210G>A heterozygosity has at most a modest effect on recurrence risk after a first episode. Although prothrombin-related thrombophilia may increase the risk for pregnancy loss, its association with preeclampsia and other complications of pregnancy such as intrauterine growth restriction and placental abruption remains controversial. Factors that predispose to thrombosis in prothrombin-related thrombophilia include: the number of 20210G>A alleles; presence of coexisting genetic abnormalities including factor V Leiden; and acquired thrombophilic disorders (e.g., antiphospholipid antibodies). Circumstantial risk factors for thrombosis include pregnancy and oral contraceptive use. Some evidence suggests that the risk for VTE in 20210G>A heterozygotes increases after travel. [from GeneReviews]

MedGen UID:
98306
Concept ID:
C0398623
Disease or Syndrome
7.

Hyperhomocysteinemia

Hyperhomocysteinemia refers to above-normal concentrations of plasma/serum homocysteine. Plasma/serum homocysteine is the sum of the thiol-containing amino acid homocysteine and the homocysteinyl moiety of the disulfides homocystine and cysteine-homocysteine, whether free or bound to proteins (Malinow and Stampfer, 1994). Hyperhomocysteinemia in isolation may be associated with an increased risk of atherosclerosis and recurrent arterial and venous thrombosis usually in the third or fourth decade of life (review by Welch and Loscalzo, 1998). Homocysteinemia is also a feature of several inherited metabolic disorders, including homocystinuria (236200), due to mutation in the CBS gene (613381), and N(5,10)-methylenetetrahydrofolate reductase deficiency (236250), caused by mutation in the MTHFR gene (607093). Homocysteinemia/homocystinuria and megaloblastic anemia can result from defects in vitamin B12 (cobalamin; cbl) metabolism, which have been classified according to complementation groups of cells in vitro; see cblE (236270) and cblG (250940). See also the various forms of combined methylmalonic aciduria (MMA) and homocystinuria due to disorders of cobalamin: cblC (277400), cblD (277410), and cblF (277380). [from OMIM]

MedGen UID:
108623
Concept ID:
C0598608
Disease or Syndrome
8.

Deep venous thrombosis

Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected. [from HPO]

MedGen UID:
505301
Concept ID:
CN002386
Finding
9.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
10.

Deep Vein Thrombosis

Deep vein thrombosis, or DVT, is a blood clot that forms in a vein deep in the body. Most deep vein clots occur in the lower leg or thigh. If the vein swells, the condition is called thrombophlebitis. A deep vein thrombosis can break loose and cause a serious problem in the lung, called a pulmonary embolism. Sitting still for a long time can make you more likely to get a DVT. Some medicines and disorders that increase your risk for blood clots can also lead to DVTs. Common symptoms are . - Warmth and tenderness over the vein . - Pain or swelling in the part of the body affected . - Skin redness . Treatment includes medicines to ease pain and inflammation, break up clots and keep new clots from forming. Keeping the affected area raised and applying moist heat can also help. If you are taking a long car or plane trip, take a break, walk or stretch your legs and drink plenty of liquids.  [from MedlinePlus]

MedGen UID:
57448
Concept ID:
C0149871
Disease or Syndrome
11.

Embolism and Thrombosis

The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. [from HPO]

MedGen UID:
43147
Concept ID:
C0085307
Disease or Syndrome
12.

Vascular disorder

The vascular system is the body's network of blood vessels. It includes the arteries, veins and capillaries that carry blood to and from the heart. Problems of the vascular system are common and can be serious. Arteries can become thick and stiff, a problem called atherosclerosis. Blood clots can clog vessels and block blood flow to the heart or brain. Weakened blood vessels can burst, causing bleeding inside the body. . You are more likely to have vascular disease as you get older. Other factors that make vascular disease more likely include. - Family history of vascular or heart diseases. - Pregnancy. - Illness or injury . - Long periods of sitting or standing still. - Any condition that affects the heart and blood vessels, such as diabetes or high cholesterol . - Smoking . - Obesity . Losing weight, eating healthy foods, being active and not smoking can help vascular disease. Other treatments include medicines and surgery.  [from MedlinePlus]

MedGen UID:
22621
Concept ID:
C0042373
Disease or Syndrome
13.

Disorder of cardiovascular system

Any abnormality of the cardiovascular system. [from HPO]

MedGen UID:
2848
Concept ID:
C0007222
Disease or Syndrome
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