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Items: 11

1.

Glanzmann thrombasthenia

Glanzmann thrombasthenia is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb/IIIa platelet surface fibrinogen receptor complex resulting from mutations in either the GPIIb or GPIIIa genes (Rosenberg et al., 1997). See 187800 for discussion of a possible dominant form. [from OMIM]

MedGen UID:
52736
Concept ID:
C0040015
Disease or Syndrome
2.

Abnormality of thrombocytes

An abnormality of platelets. [from HPO]

MedGen UID:
425077
Concept ID:
CN001692
Finding
3.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
4.

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
5.

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
6.

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
Finding; Pathologic Function
7.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
8.

Blood Coagulation Disorders, Inherited

Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation. [from MeSH]

MedGen UID:
163105
Concept ID:
C0852077
Disease or Syndrome
9.

Haemorrhagic disorders

spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (vascular hemostatic disorders). [from CRISP]

MedGen UID:
6799
Concept ID:
C0019087
Disease or Syndrome
10.

Hematologic 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
11.

Abnormality of the coagulation cascade

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
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