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Items: 1 to 20 of 39

1.

MCV - normal

MedGen UID:
678601
Concept ID:
C0860925
Finding
2.

Reticulocytosis

An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. [from HPO]

MedGen UID:
60089
Concept ID:
C0206160
Finding
3.

Hemolysis

The destruction of ERYTHROCYTES by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity. [from MeSH]

MedGen UID:
42402
Concept ID:
C0019054
Pathologic Function
4.

HEMOGLOBIN S

An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the beta chain of the globin moiety. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia. [from MeSH]

MedGen UID:
42399
Concept ID:
C0019043
Amino Acid, Peptide, or Protein; Biologically Active Substance
5.

Potassium chloride

A metal halide composed of potassium and chloride. Potassium maintains intracellular tonicity, is required for nerve conduction, cardiac, skeletal and smooth muscle contraction, production of energy, the synthesis of nucleic acids, maintenance of blood pressure and normal renal function. This agent has potential antihypertensive effects and when taken as a nutritional supplement may prevent hypokalemia. [from NCI]

MedGen UID:
10872
Concept ID:
C0032825
Inorganic Chemical; Pharmacologic Substance
6.

Dehydration

A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis. [from NCI]

MedGen UID:
8273
Concept ID:
C0011175
Disease or Syndrome
7.

Pseudohyperkalemia Cardiff

Cryohydrocytosis is an exceedingly rare condition characterized by a mild stomatocytic hemolytic state with hyperbilirubinemia. A hallmark of this condition is that red blood cells (RBCs) lyse on storage at 4 degrees centigrade. RBC cation permeability is increased at 37 degrees centigrade, and the cells also accumulate sodium in the cold (summary by Coles et al., 1999). Patients present with fatigue, mild anemia, and pseudohyperkalemia due to a potassium leak from the RBCs (summary by Bogdanova et al., 2010). For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see 194380. [from GTR]

MedGen UID:
396137
Concept ID:
C1861453
Disease or Syndrome
8.

Abnormal

Deviating in any way from the state, position, structure, condition, behavior, or rule which is considered a norm. [from NCI]

MedGen UID:
59964
Concept ID:
C0205161
Finding
9.

Problem

A difficulty, disorder, or condition needing resolution. [from NCI]

MedGen UID:
46106
Concept ID:
C0033213
Finding
10.

Swelling

Enlargement; expansion in size; sign of inflammation [from NCI]

MedGen UID:
21042
Concept ID:
C0038999
Finding
11.

Hb SS disease

Sickle cell disease (SCD) is characterized by intermittent vaso-occlusive events and chronic hemolytic anemia. Vaso-occlusive events result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, including the bones, spleen, liver, brain, lungs, kidneys, and joints. Dactylitis (pain and/or swelling of the hands or feet) is often the earliest manifestation of SCD. In children, the spleen can become engorged with blood cells in a “splenic sequestration.” The spleen is particularly vulnerable to infarction and the majority of individuals with SCD who are not on hydroxyurea or transfusion therapy become functionally asplenic in early childhood, increasing their risk for certain types of bacterial infections. Acute chest syndrome is a major cause of mortality in SCD. Chronic hemolysis can result in varying degrees of anemia, jaundice, cholelithiasis, and delayed growth and sexual maturation. Individuals with the highest rates of hemolysis are predisposed to pulmonary artery hypertension, priapism, and leg ulcers but may be relatively protected from vaso-occlusive pain. [from GTR]

MedGen UID:
287
Concept ID:
C0002895
Disease or Syndrome
12.

Membrane Transport Modulators

Agents that affect ION PUMPS; ION CHANNELS; ABC TRANSPORTERS; and other MEMBRANE TRANSPORT PROTEINS. [from MeSH]

MedGen UID:
288786
Concept ID:
C1563710
Pharmacologic Substance
13.

Molecular Mechanisms of Pharmacological Action

Pharmacological activities at the molecular level of DRUGS and other exogenous compounds that are used to treat DISEASES and affect normal BIOCHEMISTRY. [from MeSH]

MedGen UID:
226255
Concept ID:
C1258062
Molecular Function
14.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
15.

Macrolide

A group of often glycosylated macrocyclic compounds formed by chain extension of multiple PROPIONATES cyclized into a large (typically 12, 14, or 16)-membered lactone. Macrolides belong to the POLYKETIDES class of natural products, and many members exhibit ANTIBIOTIC properties. [from MeSH]

MedGen UID:
129193
Concept ID:
C0282563
Organic Chemical; Pharmacologic Substance
16.

Hemoglobinopathy

A group of inherited disorders characterized by structural alterations within the hemoglobin molecule. [from MeSH]

MedGen UID:
42400
Concept ID:
C0019045
Disease or Syndrome
17.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Congenital Abnormality; Disease or Syndrome
18.

Hemic and Lymphatic Diseases

Hematologic diseases and diseases of the lymphatic system collectively. Hemic diseases include disorders involving the formed elements (e.g., ERYTHROCYTE AGGREGATION, INTRAVASCULAR) and chemical components (e.g., BLOOD PROTEIN DISORDERS); lymphatic diseases include disorders relating to lymph, lymph nodes, and lymphocytes. [from MeSH]

MedGen UID:
6780
Concept ID:
C0018981
Disease or Syndrome
19.

Ionophore

Chemical agents that increase the permeability of biological or artificial lipid membranes to specific ions. Most ionophores are relatively small organic molecules that act as mobile carriers within membranes or coalesce to form ion permeable channels across membranes. Many are antibiotics, and many act as uncoupling agents by short-circuiting the proton gradient across mitochondrial membranes. [from MeSH]

MedGen UID:
5888
Concept ID:
C0022022
Pharmacologic Substance
20.

Hematologic disease

An abnormality of the hematopoietic system. [from HPO]

MedGen UID:
5483
Concept ID:
C0018939
Disease or Syndrome
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