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1.

von Willebrand factor

A high-molecular-weight plasma protein, produced by endothelial cells and megakaryocytes, that is part of the factor VIII/von Willebrand factor complex. The von Willebrand factor has receptors for collagen, platelets, and ristocetin activity as well as the immunologically distinct antigenic determinants. It functions in adhesion of platelets to collagen and hemostatic plug formation. The prolonged bleeding time in VON WILLEBRAND DISEASES is due to the deficiency of this factor. [from MeSH]

MedGen UID:
22685
Concept ID:
C0042971
Pharmacologic Substance
2.

Purpura

A disorder characterized by hemorrhagic areas of the skin and mucous membrane. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color. [from NCI]

MedGen UID:
19584
Concept ID:
C0034150
Finding
3.

ferric chloride

MedGen UID:
16380
Concept ID:
C0060229
Pharmacologic Substance
4.

Upshaw-Schulman syndrome

The classic pentad of TTP includes hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and nonfocal neurologic findings, decreased renal function, and fever. Congenital TTP, also known as Schulman-Upshaw syndrome, is characterized by neonatal onset, response to fresh plasma infusion, and frequent relapses (Savasan et al., 2003; Kokame et al., 2002). Acquired TTP, which is usually sporadic, usually occurs in adults and is caused by an IgG inhibitor against the von Willebrand factor-cleaving protease. [from OMIM]

MedGen UID:
224783
Concept ID:
C1268935
Disease or Syndrome
5.

Thrombocytopenic purpura

Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors. [from NCI]

MedGen UID:
208992
Concept ID:
C0857305
Disease or Syndrome
6.

Occlusion of artery

obstruction or closure of the vessels carrying blood away from the heart. [from CRISP]

MedGen UID:
78117
Concept ID:
C0264995
Pathologic Function
7.

Thrombotic thrombocytopenic purpura

a kind of blood disorder that causes blood clots to form in blood vessels around the body [from CHV]

MedGen UID:
48266
Concept ID:
C0034155
Disease or Syndrome
8.

Thrombotic microangiopathy

a kind of blood disorder that causes blood clots to form in blood vessels around the body [from CHV]

MedGen UID:
403479
Concept ID:
C2717961
Disease or Syndrome
9.

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
10.

Sugar

A white crystalline carbohydrate, typically sucrose, used as a sweetener and preservative. [from NCI]

MedGen UID:
69157
Concept ID:
C0242209
Pharmacologic Substance
11.

Thrombocytopenia

A finding based on laboratory test results that indicate a decrease in number of platelets in a blood specimen. [from NCI]

MedGen UID:
52737
Concept ID:
C0040034
Finding
12.

Skin Manifestations

Dermatologic disorders attendant upon non-dermatologic disease or injury. [from MeSH]

MedGen UID:
52366
Concept ID:
C0037285
Sign or Symptom
13.

Clinical finding

clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. [from CRISP]

MedGen UID:
19974
Concept ID:
C0037088
Sign or Symptom
14.

Petechiae

A group of small reddish or purplish spots in skin or mucous membrane as a result of localized hemorrhage. [from SNOMEDCT_US]

MedGen UID:
10680
Concept ID:
C0031256
Disease or Syndrome
15.

Hemic and Lymphatic Diseases

Hematologic diseases and diseases of the lymphatic system collectively. Hemic diseases include disorders involving the formed elements (e.g., ERYTHROCYTE AGGREGATION, INTRAVASCULAR) and chemical components (e.g., BLOOD PROTEIN DISORDERS); lymphatic diseases include disorders relating to lymph, lymph nodes, and lymphocytes. [from MeSH]

MedGen UID:
6780
Concept ID:
C0018981
Disease or Syndrome
16.

Hemorrhage

Bleeding is the loss of blood. It can happen inside or outside the body. Bleeding can be a reaction to a cut or other wound. It can also result from an injury to internal organs. There are many situations in which you might bleed. A bruise is bleeding under the skin. Some strokes are caused by bleeding in the brain. Other bleeding, such as gastrointestinal bleeding, coughing up blood, or vaginal bleeding, can be a symptom of a disease. Normally, when you bleed, your blood forms clots to stop the bleeding. Severe bleeding may require first aid or a trip to the emergency room. If you have a bleeding disorder, your blood does not form clots normally.  [from MedlinePlus]

MedGen UID:
5503
Concept ID:
C0019080
Pathologic Function
17.

Hematological Disease

Your blood is living tissue made up of liquid and solids. The liquid part, called plasma, is made of water, salts and protein. Over half of your blood is plasma. The solid part of your blood contains red blood cells, white blood cells and platelets. Blood disorders affect one or more parts of the blood and prevent your blood from doing its job. They can be acute or chronic. Many blood disorders are inherited. Other causes include other diseases, side effects of medicines, and a lack of certain nutrients in your diet. Types of blood disorders include: -Platelet disorders, excessive clotting, and bleeding problems, which affect how your blood clots. -Anemia, which happens when your blood does not carry enough oxygen to the rest of your body. -Cancers of the blood, such as leukemia and myeloma. -Eosinophilic disorders, which are problems with one type of white blood cell.  [from MedlinePlus]

MedGen UID:
5483
Concept ID:
C0018939
Disease or Syndrome
18.

Platelet disorder

Platelets are little pieces of blood cells. Platelets help wounds heal and prevent bleeding by forming blood clots. Your bone marrow makes platelets. Problems can result from having too few or too many platelets, or from platelets that do not work properly. If your blood has a low number of platelets, you can be at risk for mild to serious bleeding. If your blood has too many platelets, you may have a higher risk of blood clots. With other platelet disorders, the platelets do not work as they should. For example, in von Willebrand Disease, the platelets cannot stick together or cannot attach to blood vessel walls. This can cause excessive bleeding. Treatment of platelet disorders depends on the cause. . NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
610
Concept ID:
C0005818
Disease or Syndrome
19.

Blood Coagulation Disorders

Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system [from SNOMED CT]

MedGen UID:
604
Concept ID:
C0005779
Disease or Syndrome
20.

Petechiae

Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. [from HPO]

MedGen UID:
504665
Concept ID:
CN000905
Finding

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