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).
Nephrotic syndrome- MedGen UID:
- 10308
- •Concept ID:
- C0027726
- •
- Disease or Syndrome
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
Recurrent urinary tract infections- MedGen UID:
- 120466
- •Concept ID:
- C0262655
- •
- Disease or Syndrome
Repeated infections of the urinary tract.
Stage 5 chronic kidney disease- MedGen UID:
- 384526
- •Concept ID:
- C2316810
- •
- Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Obstruction of the superior vena cava- MedGen UID:
- 277776
- •Concept ID:
- C1336532
- •
- Pathologic Function
Blockage of blood flow through the superior vena cava (SVC). Because the venous drainage from the upper extremities, upper thorax and head is obstructed, SVC obstruction presents with symptoms related to engorgement of these areas. Both the degree of SVC compromise and the extent of collateral veins determine the varied clinical presentation, which can be as mild as slight facial and upper extremity edema or as dire as intracranial swelling, seizures, hemodynamic instability and tracheal obstruction.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Hepatosplenomegaly- MedGen UID:
- 9225
- •Concept ID:
- C0019214
- •
- Sign or Symptom
Simultaneous enlargement of the liver and spleen.
Arthritis- MedGen UID:
- 2043
- •Concept ID:
- C0003864
- •
- Disease or Syndrome
Inflammation of a joint.
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 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.
Autoimmunity- MedGen UID:
- 2136
- •Concept ID:
- C0004368
- •
- Pathologic Function
The occurrence of an immune reaction against the organism's own cells or tissues.
Membranous nephropathy- MedGen UID:
- 42231
- •Concept ID:
- C0017665
- •
- Disease or Syndrome
A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Antinuclear antibody positivity- MedGen UID:
- 101792
- •Concept ID:
- C0151480
- •
- Laboratory or Test Result
The presence of autoantibodies in the serum that react against nuclei or nuclear components.
Recurrent infections- MedGen UID:
- 65998
- •Concept ID:
- C0239998
- •
- Finding
Increased susceptibility to infections.
Autoimmune thrombocytopenia- MedGen UID:
- 116621
- •Concept ID:
- C0242584
- •
- Disease or Syndrome
The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.
Generalized lymphadenopathy- MedGen UID:
- 96909
- •Concept ID:
- C0476486
- •
- Finding
A generalized form of lymphadenopathy.
Lymphadenopathy- MedGen UID:
- 96929
- •Concept ID:
- C0497156
- •
- Disease or Syndrome
Enlargment (swelling) of a lymph node.
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.
Decreased circulating complement C3 concentration- MedGen UID:
- 332469
- •Concept ID:
- C1837512
- •
- Finding
Concentration of the complement component C3 in the blood circulation below the lower limit of normal.
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.
Increased B cell count- MedGen UID:
- 349067
- •Concept ID:
- C1858972
- •
- Finding
An abnormal increase from the normal count of B cells.
Persistent EBV viremia- MedGen UID:
- 767466
- •Concept ID:
- C3554552
- •
- Finding
Persistent presence of Epstein-Barr virus in the blood.
Follicular hyperplasia- MedGen UID:
- 863170
- •Concept ID:
- C4014733
- •
- Finding
Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.
Decreased proportion of memory B cells- MedGen UID:
- 893145
- •Concept ID:
- C4072913
- •
- Finding
A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).
Decreased proportion of class-switched memory B cells- MedGen UID:
- 892709
- •Concept ID:
- C4072925
- •
- Finding
A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.
Decreased circulating complement C4 concentration- MedGen UID:
- 893114
- •Concept ID:
- C4073169
- •
- Finding
Concentration of the complement component C4 in the blood circulation below the lower limit of normal.
Absent isohemagglutinin level- MedGen UID:
- 1691361
- •Concept ID:
- C5139456
- •
- Finding
Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).
Anticardiolipin IgG antibody positivity- MedGen UID:
- 1696853
- •Concept ID:
- C5209232
- •
- Laboratory or Test Result
The presence of circulating IgG autoantibodies to cardiolipin.
Increased circulating antibody level- MedGen UID:
- 1713383
- •Concept ID:
- C5397581
- •
- Finding
An increased level of gamma globulin (immunoglobulin) in the blood.
Increased proportion autoreactive unresponsive CD21-/low B cells- MedGen UID:
- 1772613
- •Concept ID:
- C5421684
- •
- Finding
Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures.
Elevated erythrocyte sedimentation rate- MedGen UID:
- 57727
- •Concept ID:
- C0151632
- •
- Finding
An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
Elevated circulating aspartate aminotransferase concentration- MedGen UID:
- 57497
- •Concept ID:
- C0151904
- •
- Finding
The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.
Elevated circulating alanine aminotransferase concentration- MedGen UID:
- 57740
- •Concept ID:
- C0151905
- •
- Finding
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
Recurrent fever- MedGen UID:
- 811468
- •Concept ID:
- C3714772
- •
- Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.
Elevated circulating C-reactive protein concentration- MedGen UID:
- 892906
- •Concept ID:
- C4023452
- •
- Finding
An abnormal elevation of the C-reactive protein level in the blood circulation.
Mediastinal lymphadenopathy- MedGen UID:
- 451062
- •Concept ID:
- C0520743
- •
- Disease or Syndrome
Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.
Alopecia- MedGen UID:
- 7982
- •Concept ID:
- C0002170
- •
- Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Erythematous macule- MedGen UID:
- 1390597
- •Concept ID:
- C2228270
- •
- Finding
A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation.
- Abnormality of metabolism/homeostasis
- 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 musculoskeletal system
- Abnormality of the respiratory system
- Abnormality of the thoracic cavity
- Neoplasm