| HPO |
HP:0001905 |
Congenital thrombocytopenia |
"Thrombocytopenia with congenital onset." [HPO:probinson] |
— |
HP:0001873 |
| HPO |
HP:0001907 |
Thromboembolism |
"The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site." [HPO:probinson] |
— |
HP:0001977 |
| HPO |
HP:0001908 |
Hypoplastic anemia |
"Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia." [HPO:probinson] |
— |
HP:0010972 |
| HPO |
HP:0001909 |
Leukemia |
"A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes." [HPO:probinson, NCIT:C3161] |
— |
HP:0001881, HP:0004377 |
| HPO |
HP:0001911 |
Abnormal granulocyte morphology |
"Any structural abnormality or abnormal count of granulocytes." [HPO:probinson] |
— |
HP:0010974 |
| HPO |
HP:0001912 |
Abnormal basophil morphology |
"Any structural abnormality or abnormal count of basophils." [HPO:probinson, PMID:24075190] |
Basophils are myeoloid granulocytes and part of the innate immune system. They represent the least abundant granulocyte population in mammals. They have a complex, almost C-shaped nucleus. Their granules stain blue with basic dye. They are not phagacytic. They are involved in the immune response to worms. Their cell surface has Fc receptors which may be attached to class E antibodies. |
HP:0001911 |
| HPO |
HP:0001913 |
Granulocytopenia |
"An abnormally reduced number of granulocytes in the blood." [HPO:probinson] |
— |
HP:0032309 |
| HPO |
HP:0001915 |
Aplastic anemia |
"Aplastic anemia is defined as pancytopenia with a hypocellular marrow." [HPO:probinson, PMID:21239768] |
Aplastic anemia is characterized by reduced numbers of all blood cell types (red blood cells, white blood cells, and platelets) owing to reduced production. |
HP:0001876 |
| HPO |
HP:0001917 |
Renal amyloidosis |
"A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856)." [HPO:probinson, PMID:25852856] |
In the kidney, amyloid deposits may be found in any of the parenchymal compartments, including glomeruli, tubules, interstitium and/or vessels. Glomeruli are most commonly involved. In most instances, amyloid accumulation involves the mesangium before the capillary walls. In early cases, the process can be subtle and involves only a few mesangial regions and therefore can easily be missed by routine histologic evaluation. More extensive involvement results in marked expansion of the mesangium, which can take on a nodular appearance and mimic mesangial sclerotic processes such as diabetic glomerulosclerosis. However, the often negative staining with PAS and JMS is more typical of amyloid. |
HP:0011034, HP:0012210 |
| HPO |
HP:0001919 |
Acute kidney injury |
"Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia)." [HPO:probinson] |
Acute renal failure is usually classified into prerenal (response to severe volume depletion), intrinsic (response to acute cytotoxic, ischemic, or inflammatory insults) and postrenal (response to obstruction of the passage of urine) etiologies. |
HP:0000083 |
| HPO |
HP:0001920 |
Renal artery stenosis |
"The presence of stenosis of the renal artery." [HPO:probinson] |
— |
HP:0008776, HP:0100545 |
| HPO |
HP:0001922 |
Vacuolated lymphocytes |
"The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm." [HPO:probinson, PMID:20633042] |
Vacuolated lymphocytes occur most commonly as the peripheral blood manifestation of inherited metabolic disorders, including Niemann-Pick disease Type A, infantile sialic acid storage disorder, Wolman's disease, Mucolipidoses II and III, Salla disease, mannosidosis, Batten disease, GM1 gangliosidosis, neuraminidase deficiency, galactosidosis, fucosidosis, Pompe's disease, aspartylglycosaminuria and rarely, multiple sulfatase deficiency. The metabolic product, which causes vacuolation, depends on the specific enzyme deficiency. |
HP:0004332 |
| HPO |
HP:0001923 |
Reticulocytosis |
"An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation." [HPO:probinson] |
— |
HP:0004312 |
| HPO |
HP:0001924 |
Sideroblastic anemia |
"Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining)." [HPO:probinson] |
Sideroblastic anemia may be either congenital or acquired. In sideroblastic anemia, the hematocrit tends to be around 20 to 30 percent, and the mean corpuscular volume is normal or low. |
HP:0010972 |
| HPO |
HP:0001927 |
Acanthocytosis |
"Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars." [HPO:probinson] |
— |
HP:0004447 |
| HPO |
HP:0001928 |
Abnormality of coagulation |
"An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot." [HPO:probinson] |
— |
HP:0001871 |
| HPO |
HP:0001929 |
Reduced factor XI activity |
"Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX." [HPO:probinson] |
— |
HP:0010989 |
| HPO |
HP:0001930 |
Nonspherocytic hemolytic anemia |
— |
— |
HP:0001878 |
| HPO |
HP:0001931 |
Hypochromic anemia |
"A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes." [HPO:probinson] |
The low concentration of hemoglobin in the erythrocytes causes them to be abnormally pale, i.e., to have less color (be hypochromic). |
HP:0010972 |
| HPO |
HP:0001933 |
Subcutaneous hemorrhage |
"This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses)." [HPO:probinson] |
Purpura measure 0.3-1 cm (3-10 mm), whereas petechiae measure less than 3 mm, and ecchymoses greater than 1 cm. |
HP:0001892, HP:0011276 |
| HPO |
HP:0001934 |
Persistent bleeding after trauma |
— |
— |
HP:0001892 |
| HPO |
HP:0001935 |
Microcytic anemia |
"A kind of anemia in which the volume of the red blood cells is reduced." [HPO:probinson] |
In normocytic anemia, the mean corpuscular volume (MCV) is below normal limits (>80 fl in adults). |
HP:0010972 |
| HPO |
HP:0001937 |
Microangiopathic hemolytic anemia |
— |
— |
HP:0001878 |
| HPO |
HP:0001939 |
Abnormality of metabolism/homeostasis |
— |
— |
HP:0000118 |
| HPO |
HP:0001941 |
Acidosis |
"Abnormal acid accumulation or depletion of base." [HPO:probinson, PMID:24381489] |
When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. |
HP:0004360 |