From HPO
Lymphoproliferative disorder- MedGen UID:
- 6162
- •Concept ID:
- C0024314
- •
- Neoplastic Process
A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis).
Kidney disorder- MedGen UID:
- 9635
- •Concept ID:
- C0022658
- •
- Disease or Syndrome
A nonspecific term referring to disease or damage of the kidneys.
Small vessel vasculitis- MedGen UID:
- 868710
- •Concept ID:
- C4023113
- •
- Disease or Syndrome
A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries.
Large vessel vasculitis- MedGen UID:
- 870761
- •Concept ID:
- C4025218
- •
- Disease or Syndrome
A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta.
Ulcerative colitis- MedGen UID:
- 3532
- •Concept ID:
- C0009324
- •
- Disease or Syndrome
A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.
Diarrhea- MedGen UID:
- 8360
- •Concept ID:
- C0011991
- •
- Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Hematemesis- MedGen UID:
- 6770
- •Concept ID:
- C0018926
- •
- Sign or Symptom
The vomiting of blood.
Melena- MedGen UID:
- 7523
- •Concept ID:
- C0025222
- •
- Pathologic Function
The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.
Chronic diarrhea- MedGen UID:
- 96036
- •Concept ID:
- C0401151
- •
- Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Inflammation of the large intestine- MedGen UID:
- 662273
- •Concept ID:
- C0578878
- •
- Disease or Syndrome
Inflammation, or an inflammatory state in the large intestine.
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.
Thrombocytopenia- MedGen UID:
- 52737
- •Concept ID:
- C0040034
- •
- Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Prolonged bleeding time- MedGen UID:
- 56231
- •Concept ID:
- C0151529
- •
- Finding
Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.
Iron deficiency anemia- MedGen UID:
- 57668
- •Concept ID:
- C0162316
- •
- Disease or Syndrome
Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss.
Decreased mean platelet volume- MedGen UID:
- 853132
- •Concept ID:
- C1096368
- •
- Finding
Average platelet volume below the lower limit of the normal reference interval.
Recurrent sinusitis- MedGen UID:
- 107919
- •Concept ID:
- C0581354
- •
- Disease or Syndrome
A recurrent form of sinusitis.
Recurrent upper respiratory tract infections- MedGen UID:
- 154380
- •Concept ID:
- C0581381
- •
- Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Recurrent pneumonia- MedGen UID:
- 195802
- •Concept ID:
- C0694550
- •
- Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Recurrent lower respiratory tract infections- MedGen UID:
- 756211
- •Concept ID:
- C3163798
- •
- Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Autoimmune hemolytic anemia- MedGen UID:
- 1918
- •Concept ID:
- C0002880
- •
- Disease or Syndrome
An autoimmune form of hemolytic anemia.
Eczematoid dermatitis- MedGen UID:
- 3968
- •Concept ID:
- C0013595
- •
- Disease or Syndrome
Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.
Eosinophilia- MedGen UID:
- 41824
- •Concept ID:
- C0014457
- •
- Disease or Syndrome
Increased count of eosinophils in the blood.
Lymphopenia- MedGen UID:
- 7418
- •Concept ID:
- C0024312
- •
- Disease or Syndrome
A reduced number of lymphocytes in the blood.
Sepsis- MedGen UID:
- 48626
- •Concept ID:
- C0036690
- •
- Disease or Syndrome
Systemic inflammatory response to infection.
Increased circulating IgE level- MedGen UID:
- 116018
- •Concept ID:
- C0236175
- •
- Finding
An abnormally increased overall level of immunoglobulin E in blood.
Increased circulating IgA level- MedGen UID:
- 66800
- •Concept ID:
- C0239984
- •
- Finding
An abnormally increased level of immunoglobulin A in blood.
Decreased circulating total IgM- MedGen UID:
- 116095
- •Concept ID:
- C0239989
- •
- Finding
An abnormally decreased level of immunoglobulin M (IgM) in blood.
Recurrent meningitis- MedGen UID:
- 152879
- •Concept ID:
- C0746495
- •
- Disease or Syndrome
An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.
Recurrent otitis media- MedGen UID:
- 155436
- •Concept ID:
- C0747085
- •
- Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Abnormal delayed hypersensitivity skin test- MedGen UID:
- 322137
- •Concept ID:
- C1833172
- •
- Finding
Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter.
Absent microvilli on the surface of peripheral blood lymphocytes- MedGen UID:
- 322138
- •Concept ID:
- C1833173
- •
- Finding
Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes.
Decreased proportion of CD8-positive T cells- MedGen UID:
- 374188
- •Concept ID:
- C1839305
- •
- Finding
A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.
Reduced natural killer cell activity- MedGen UID:
- 333452
- •Concept ID:
- C1839969
- •
- Finding
Reduced ability of the natural killer cell to function in the adaptive immune response.
Decreased specific anti-polysaccharide antibody level- MedGen UID:
- 867382
- •Concept ID:
- C4021747
- •
- Finding
The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.
Reduced lymphocyte surface expression of CD43- MedGen UID:
- 867397
- •Concept ID:
- C4021766
- •
- Finding
A reduction in the expression of CD43 on the cell surface of lymphocytes.
Recurrent herpes- MedGen UID:
- 870750
- •Concept ID:
- C4025207
- •
- Finding
Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.
Impaired lymphocyte transformation with phytohemagglutinin- MedGen UID:
- 871152
- •Concept ID:
- C4025625
- •
- Finding
Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.
Decreased proportion of CD4-positive helper T cells- MedGen UID:
- 1719772
- •Concept ID:
- C5235140
- •
- Finding
A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.
Oral bleeding- MedGen UID:
- 10459
- •Concept ID:
- C0029163
- •
- Pathologic Function
Bleeding originating from the mouth.
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.
Purpura- MedGen UID:
- 19584
- •Concept ID:
- C0034150
- •
- Disease or Syndrome
Purpura (from Latin
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the respiratory system
- Neoplasm