From HPO
Arthralgia- MedGen UID:
- 13917
- •Concept ID:
- C0003862
- •
- Sign or Symptom
Joint pain.
Hydronephrosis- MedGen UID:
- 42531
- •Concept ID:
- C0020295
- •
- Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
Nephrotic range proteinuria- MedGen UID:
- 619713
- •Concept ID:
- C0445118
- •
- Disease or Syndrome
Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children.
Macroscopic hematuria- MedGen UID:
- 633103
- •Concept ID:
- C0473237
- •
- Finding
Hematuria that is visible upon inspection of the urine.
Enlarged kidney- MedGen UID:
- 108156
- •Concept ID:
- C0542518
- •
- Finding
An abnormal increase in the size of the kidney.
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.
Mesangial Immune complex deposition- MedGen UID:
- 1784789
- •Concept ID:
- C5539490
- •
- Finding
Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Recurrent respiratory infections- MedGen UID:
- 812812
- •Concept ID:
- C3806482
- •
- Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Glomerulonephritis- MedGen UID:
- 6616
- •Concept ID:
- C0017658
- •
- Disease or Syndrome
Inflammation of the renal glomeruli.
Autoimmune thrombocytopenia- MedGen UID:
- 116621
- •Concept ID:
- C0242584
- •
- Disease or Syndrome
The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.
Recurrent bacterial infections- MedGen UID:
- 334943
- •Concept ID:
- C1844383
- •
- Finding
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Abnormal T cell count- MedGen UID:
- 866762
- •Concept ID:
- C4021113
- •
- Finding
A deviation from the normal count of T cells.
Abnormal B cell count- MedGen UID:
- 866853
- •Concept ID:
- C4021208
- •
- Finding
A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.
Decreased specific pneumococcal antibody level- MedGen UID:
- 868496
- •Concept ID:
- C4022890
- •
- Finding
The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.
Chronic decreased circulating total IgG- MedGen UID:
- 1685230
- •Concept ID:
- C5139153
- •
- Finding
A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.
Complete or near-complete absence of specific antibody response to tetanus vaccine- MedGen UID:
- 1687415
- •Concept ID:
- C5139458
- •
- Finding
The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.
Purpura- MedGen UID:
- 19584
- •Concept ID:
- C0034150
- •
- Disease or Syndrome
Purpura (from Latin
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the respiratory system
- Constitutional symptom