From HPO
Hemolytic anemia- MedGen UID:
- 1916
- •Concept ID:
- C0002878
- •
- Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).
Epistaxis- MedGen UID:
- 4996
- •Concept ID:
- C0014591
- •
- Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
Gingival bleeding- MedGen UID:
- 42218
- •Concept ID:
- C0017565
- •
- Pathologic Function
Hemorrhage affecting the gingiva.
Menorrhagia- MedGen UID:
- 44358
- •Concept ID:
- C0025323
- •
- Pathologic Function
Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
Thrombocytopenia- MedGen UID:
- 52737
- •Concept ID:
- C0040034
- •
- Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Stomatocytosis- MedGen UID:
- 760280
- •Concept ID:
- C0677598
- •
- Laboratory or Test Result
The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.
Increased mean platelet volume- MedGen UID:
- 853131
- •Concept ID:
- C1096367
- •
- Finding
Average platelet volume above the upper limit of the normal reference interval.
Prolonged bleeding after dental extraction- MedGen UID:
- 369536
- •Concept ID:
- C1969572
- •
- Pathologic Function
Prolonged bleeding post dental extraction sufficient to require medical intervention.
Impaired ristocetin-induced platelet aggregation- MedGen UID:
- 868749
- •Concept ID:
- C4023154
- •
- Pathologic Function
Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin.
Impaired ADP-induced platelet aggregation- MedGen UID:
- 870824
- •Concept ID:
- C4025282
- •
- Finding
Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.
Impaired collagen-related peptide-induced platelet aggregation- MedGen UID:
- 1373790
- •Concept ID:
- C4476987
- •
- Cell or Molecular Dysfunction
Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Ecchymosis- MedGen UID:
- 8524
- •Concept ID:
- C0013491
- •
- Finding
A purpuric lesion that is larger than 1 cm in diameter.
Petechiae- MedGen UID:
- 10680
- •Concept ID:
- C0031256
- •
- Disease or Syndrome
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.
Bruising susceptibility- MedGen UID:
- 140849
- •Concept ID:
- C0423798
- •
- Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
- Abnormality of blood and blood-forming tissues
- Abnormality of the immune system
- Abnormality of the integument