From HPO
Cardiomegaly- MedGen UID:
- 5459
- •Concept ID:
- C0018800
- •
- Finding
Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.
Portal hypertension- MedGen UID:
- 9375
- •Concept ID:
- C0020541
- •
- Disease or Syndrome
Increased pressure in the portal vein.
Cardiogenic shock- MedGen UID:
- 48650
- •Concept ID:
- C0036980
- •
- Pathologic Function
Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume.
Pulmonary arterial hypertension- MedGen UID:
- 425404
- •Concept ID:
- C2973725
- •
- Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
Increased circulating troponin T concentration- MedGen UID:
- 1634809
- •Concept ID:
- C4703661
- •
- Finding
An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.
Cirrhosis of liver- MedGen UID:
- 7368
- •Concept ID:
- C0023890
- •
- Disease or Syndrome
A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Simple febrile seizure- MedGen UID:
- 101773
- •Concept ID:
- C0149886
- •
- Disease or Syndrome
A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance.
Increased CSF protein concentration- MedGen UID:
- 329971
- •Concept ID:
- C1806780
- •
- Finding
Increased concentration of protein in the cerebrospinal fluid.
Pancytopenia- MedGen UID:
- 18281
- •Concept ID:
- C0030312
- •
- Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Elevated circulating D-dimer concentration- MedGen UID:
- 677042
- •Concept ID:
- C0742969
- •
- Finding
An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation.
Prolonged prothrombin time- MedGen UID:
- 208879
- •Concept ID:
- C0853225
- •
- Finding
Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula
Basal ganglia calcification- MedGen UID:
- 234651
- •Concept ID:
- C1389280
- •
- Pathologic Function
The presence of calcium deposition affecting one or more structures of the basal ganglia.
Leukocytosis- MedGen UID:
- 9736
- •Concept ID:
- C0023518
- •
- Disease or Syndrome
An abnormal increase in the number of leukocytes in the blood.
Lymphopenia- MedGen UID:
- 7418
- •Concept ID:
- C0024312
- •
- Disease or Syndrome
A reduced number of lymphocytes in the blood.
Myositis disease- MedGen UID:
- 44564
- •Concept ID:
- C0027121
- •
- Disease or Syndrome
Idiopathic inflammatory myopathy is a group of disorders characterized by inflammation of the muscles used for movement (skeletal muscles). Idiopathic inflammatory myopathy usually appears in adults between ages 40 and 60 or in children between ages 5 and 15, though it can occur at any age.\n\nThe primary symptom of idiopathic inflammatory myopathy is muscle weakness, which develops gradually over a period of weeks to months or even years. Other symptoms include joint pain and general tiredness (fatigue).\n\nThere are several forms of idiopathic inflammatory myopathy, including polymyositis, dermatomyositis, and sporadic inclusion body myositis.\n\nPolymyositis and dermatomyositis involve weakness of the muscles closest to the center of the body (proximal muscles), such as the muscles of the hips and thighs, upper arms, and neck. People with these forms of idiopathic inflammatory myopathy may find it difficult to climb stairs, get up from a seated position, or lift items above their head. In some cases, muscle weakness may make swallowing or breathing difficult.\n\nPolymyositis and dermatomyositis have similar symptoms, but dermatomyositis is distinguished by a reddish or purplish rash on the eyelids, elbows, knees, or knuckles. Sometimes, abnormal calcium deposits form hard, painful bumps under the skin (calcinosis).\n\nIn sporadic inclusion body myositis, the muscles most affected are those of the wrists and fingers and the front of the thigh. Affected individuals may frequently stumble while walking and find it difficult to grasp items. As in dermatomyositis and polymyositis, swallowing can be difficult.
Pneumonia- MedGen UID:
- 10813
- •Concept ID:
- C0032285
- •
- Disease or Syndrome
Inflammation of any part of the lung parenchyma.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Reduced natural killer cell count- MedGen UID:
- 383765
- •Concept ID:
- C1855767
- •
- Finding
Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.
Increased circulating interferon-gamma concentration- MedGen UID:
- 892529
- •Concept ID:
- C4072900
- •
- Finding
An elevation in the concentration of interferon gamma measured in the blood circulation.
Increased circulating interleukin 6 concentration- MedGen UID:
- 901461
- •Concept ID:
- C4280771
- •
- Finding
The concentration of interleukin-6 in the blood circulation is above the upper limit of normal.
Abnormally low T cell receptor excision circle level- MedGen UID:
- 1611921
- •Concept ID:
- C4531052
- •
- Finding
Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells.
Decreased circulating IgG concentration- MedGen UID:
- 1720114
- •Concept ID:
- C5234937
- •
- Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
Decreased proportion of gamma-delta T cells- MedGen UID:
- 1713360
- •Concept ID:
- C5398020
- •
- Finding
Decreased proportion of gamma-delta T cells relative to the total number of T cells.
Increased circulating interleukin 10 concentration- MedGen UID:
- 1735742
- •Concept ID:
- C5421678
- •
- Finding
An elevation of the concentration of interleukin 10 in the blood circulation.
Skin rash- MedGen UID:
- 1830322
- •Concept ID:
- C5779628
- •
- Sign or Symptom
A red eruption of the skin.
Increased circulating interleukin 18 concentration- MedGen UID:
- 1841761
- •Concept ID:
- C5826400
- •
- Finding
An increased concentration of interleukin-18 in the blood circulation.
Elevated circulating tumor necrosis factor alpha concentration- MedGen UID:
- 1864198
- •Concept ID:
- C5937062
- •
- Finding
The concentration of tumor necrosis factor alpha in the blood circulation is above the upper limit of normal.
Increased circulating interleukin 1beta concentration- MedGen UID:
- 1864063
- •Concept ID:
- C5937166
- •
- Finding
An increased concentration of interleukin-1beta in the blood circulation.
Fever- MedGen UID:
- 5169
- •Concept ID:
- C0015967
- •
- Sign or Symptom
Body temperature elevated above the normal range.
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).
Elevated circulating creatine kinase concentration- MedGen UID:
- 69128
- •Concept ID:
- C0241005
- •
- Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Increased circulating ferritin concentration- MedGen UID:
- 69130
- •Concept ID:
- C0241013
- •
- Finding
Increased concentration of ferritin in the blood circulation.
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.
Increased circulating NT-proBNP concentration- MedGen UID:
- 1385064
- •Concept ID:
- C4477024
- •
- Finding
An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP).
Increased circulating lactate dehydrogenase concentration- MedGen UID:
- 1377250
- •Concept ID:
- C4477095
- •
- Finding
An elevated level of the enzyme lactate dehydrogenase in the blood circulation.
Elevated circulating myoglobin concentration- MedGen UID:
- 1787040
- •Concept ID:
- C5539591
- •
- Finding
An increased blood concentration of myoglobin.
Elevated circulating soluble CD25 concentration- MedGen UID:
- 1784407
- •Concept ID:
- C5539839
- •
- Finding
Increased concentration of the interleukin-2 receptor alpha-chain (CD25) in the blood circulation. CD25 is shed upon immune activation. Increased levels of soluble CD25, therefore, are an indication of an on-going immune response.
- Abnormality of blood and blood-forming tissues
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system