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Glossary for Abnormal blood test symptoms

Medical terms related to Abnormal blood test symptoms or mentioned in this section include:

  • 17-Beta-hydroxysteroid dehydrogenase III deficiency: A rare disorder characterized caused by an enzyme (17-ketosteroid reductase) defect only in the testes which results in a lack of testosterone which is needed during the fetal stage to give males there physical characteristics.
  • 18-Hydroxylase deficiency: A rare genetic, metabolic defect where a deficiency of the enzyme 18-Hydroxylase which results in a reduced amount of aldosterone and salt wasting.
  • 22q11.2 deletion syndrome: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
  • 3-Hydroxyacyl-CoA Dehydrogenase II Deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
  • 3-alpha-Hydroxyacyl-CoA Dehydrogenase Deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • 3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency: A rare inherited form of biochemical disorder characterized by the deficiency of a particular enzyme (3-Hydroxyacyl-CoA Dehydrogenase). The enzyme deficiency only affects certain body tissues, in particular the skeletal muscles. The lack of enzyme activity prevents some fats being converted into energy. Symptoms tend to be exacerbated during fasting as during fasting, the body tries to rely more heavily on fats for energy. Fatty acids that are not completely metabolized due to the enzyme deficiency may build up in various organs and cause serious complications.
  • 3-methylglutaconic aciduria, type 4: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 4 is characterized by symptoms which overlap type 1 and 3.
  • 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency: A very rare metabolic disorder where a deficiency of a particular enzyme results in the urinary excretion of a chemical called hawkinsin. Symptoms start once the infant is weaned off breast milk.
  • ACAD8 deficiency: An extremely rare metabolic disorder where the body is unable to metabolize certain proteins properly. More specifically, an insufficient level of the enzyme (isobutyryl-coenzyme A dehydrogenase) needed to metabolize the amino acid valine. The onset and severity of symptoms is variable.
  • ACAD9 deficiency: A metabolic disorder involving a deficiency of an enzyme (acyl-CoA dehydrogenase-9). The symptoms are variable and are usually triggered by a viral infection or ingestion of aspirin which can trigger a Reye-like episode which can cause death.
  • ACTH Deficiency: A rare endocrine disorder involving a lack of ACTH (adrenocorticotropic hormone) and low levels of cortisol and steroid hormones.
  • ACTH deficiency, isolated: An inherited deficiency of adrenocorticotropic hormone. The condition results from a genetic defect.
  • APECED Syndrome: APECED is a recessively inherited genetic disease characterized by the presence of two of the following three conditions: impaired parathyroid function, yeast infection (candidiasis) and impaired adrenal gland function (Addison's disease). It is an autoimmune disease resulting from a genetic defect. The body's immune system malfunctions and attacks it's own body tissues.
  • ASO present: The presence of antistreptolysin antibodies in the blood system
  • ATR16: A rare disorder characterized by alpha thalassemia and mental retardation.
  • Aase-Smith I syndrome: A very rare hereditary syndrome characterized by deformities such as joint contractures, anemia, hydrocephalus and cleft palate.
  • Abdominal obesity metabolic syndrome: A syndrome characterized by a group of conditions that are considered major risk factors for diabetes mellitus and cardiovascular disease.
  • Abdominal symptoms: Symptoms affecting the abdomen or digestive tract
  • Abetalipoproteinemia: A rare genetic disorder involving fat metabolism. The disorder is also known as Bassen-Kornzweig syndrome. Signs of the disease include acanthocytosis, little or no serum beta-lipoproteins and hypocholesterolemia. In severe cases, steatorrhea, ataxia, nystagmus, motor incoordination and retinitis pigmentosa may also occur.
  • Abnormal blood smear findings in children: Abnormal blood smear findings in children refers to abnormal blood smear test results in children.
  • Abnormal pain: The abnormal presence of pain that one may feel
  • Absence of gamma: The absence of anything located in the gamma region on electrophoresis
  • Absent alpha 1 band: An absence of alpha-1-antitrypsin the the body
  • Acetylcholine receptor antibodies: The presence of antibodies in the blood to acetylcholine receptor
  • Achalasia -- Addisonianism -- Alacrimia syndrome: A rare inherited disorder characterized mainly by achalasia, alacrimia (absent tears) and Addison's disease. Addison's disease involves adrenal insufficiency due to a resistance to adrenocorticotropic hormone. Only about 70 cases reported worldwide.
  • Achalasia -- addisonianism -- alacrima syndrome: A rare inherited disorder characterized mainly by achalasia, alacrimia (absent tears) and Addison's disease. Addison's disease involves adrenal insufficiency due to a resistance to adrenocorticotropic hormone. Only about 70 cases reported worldwide.
  • Achor-Smith syndrome: A dietary deficiency disorder involving low blood potassium levels which leads to other problems such as diarrhea, anemia, muscle wasting and kidney problems.
  • Acid phosphatase elevation: Acid phosphatase is an enzyme which is stored in the lysosomes. Its elevation maybe to diagnostic of certain diseases in various organs
  • Acid-Base Imbalance: A disruption to the normal acid-base equilibrium in the body. There are four main groups of disorder involving an acid-base imbalance: respiratory acidosis or alkalosis and metabolic acidosis or alkalosis. Obviously the severity of symptoms is determined by the degree of imbalance.
  • Acidemia, methylmalonic: An inborn error of metabolism where amino acids in the body aren't metabolized properly resulting in high levels of the acid throughout the body.
  • Acidemia, propionic: An inherited genetic disorder where the body is incapable of processing some proteins and fats resulting in the accumulation of certain substances in the body which causes the symptoms of the condition. The condition can be life threatening.
  • Acidosis: The accumulation of hydrogen ions or the depletion of the alkaline reserve in the body.
  • Ackee Fruit Food poisoning: Unripe ackee fruit contains a chemical called hypoglycin A and B which affect the central nervous system and fatty acid oxidation. Eating the unripe fruit can cause symptoms can occur in as little as two hours but is generally 6 to 48 hours. The ackee fruit is found mainly in Jamaica, West Africa, Central America, Sought Florida, southern California and Hawaii.
  • Acquired hypoprothrombinemia: A low level of blood prothrombins which is not inherited but occurs as a result of certain medical disorders such as Vitamin K deficiency.
  • Acquired idiopathic sideroblastic anaemia: A rare disorder where iron is transported into a developing blood cells but because it is unable to be used, it builds up within the cell and tends to stop it from developing into a fully functioning red blood cell. Thus anemia can occur despite adequate or even high iron levels. Acquired cases can occur on exposure to excess alcohol, lead and drugs or can occur to nutritional problems involving a deficiency of folic acid or copper or an excess of zinc. The condition can also be caused by conditions such as kidney problems, endocrine dysfunction, metabolic disorders, rheumatoid arthritis and leukemia.
  • Acquired total lipodystrophy: A rare acquired disorder that involves adipose tissue abnormalities and is characterized by loss of adipose tissue through the body. The disorder is very similar to the congenital form but the liver involvement is more severe.
  • Acral dysostosis -- dyserythropoiesis: A rare disorder characterized by hand and foot defects as well as a congenital form of anemia characterized by the production of abnormal red blood cells.
  • Acrodynia: A disease occurring in infants or young children. Symptoms include edema, pruritis, skin rash, extremities are pink, cheeks and nose are scarlet, profuse sweating, digestive disturbance, photophobia, polyneuritis, irritability, listlessness, apathy and failure to thrive.
  • Acute Pesticide poisoning -- Ureas: Urea is a class of active ingredients used in certain defoliants, herbicides, insecticides and rodenticides. Exposure to the chemical can cause a range of symptoms depending on the level and route of exposure. Exposure can occur through inhalation, ingestion, the skin or eyes. Acute exposure involves a exposure over a short period of time whereas chronic exposure occurs over a longer period of time.
  • Acute Pesticide poisoning -- xylene: Xylene is an ingredient used in certain insecticides. Exposure to the chemical can cause a range of symptoms depending on the level and route of exposure. Exposure can occur through inhalation, ingestion, the skin or eyes. Acute exposure involves a exposure over a short period of time whereas chronic exposure occurs over a longer period of time.
  • Acute adult T-Cell leukemia: A form of blood cancer affecting the T-cells which make up the body's immune system. The disease is caused by the HTLV-1 virus (human T-cell leukemia virus) which causes the proliferation of abnormal T-cells. The virus can be transmitted sexually and may lay dormant for decades. There are four subtypes: acute, chronic, lymphoma and smoldering. The acute and lymphoma subtypes have the poorest prognosis. The acute subtype tends to progress rapidly and is the most prevalent form of the condition.
  • Acute basophilic leukaemia: A rare type of acute myeloid leukemia characterized by the presence of abnormal basophils.
  • Acute cholesterol-related symptoms: diseases which can cause an increase in the total cholesterol and hence lead to cholesterol related complications
  • Acute cholinergic dysautonomia: A rare condition characterized by the presence of abnormal red blood cells in the bone marrow and blood. The condition is characterized by anemia and generally leads to the development of acute myelogenous leukemia. The acute form has more severe symptoms than the chronic form.
  • Acute erythroleukemia: A rare condition characterized by the presence of abnormal blood cells (erythroblastic precursors) in the bone marrow and blood. The condition is characterized by anemia and generally leads to the development of acute myelogenous leukemia. The acute form has more severe symptoms than the chronic form.
  • Acute fatty liver of pregnancy: A rare complication of pregnancy that can occur in the second half of the pregnancy. It is characterized by excessive fatty deposits in the liver which can be fatal without prompt diagnosis and treatment which involves delivering the baby as soon as possible.
  • Acute leukemia: An acute condition which affects a cell line of the blood which shows little or no differentiation
  • Acute lower respiratory conditions: An acute condition that occurs in the lower respiratory tract
  • Acute lymphoblastic leukemia: A malignant disease that starts suddenly and progresses quickly. It is characterized by a high number of immature cells in the organs, bone marrow and blood. Symptoms include fever, pallor, anorexia, fatigue, anemia, hemorrhage, bone pain, splenomegaly and frequent infections. Also called acute lymphocytic leukemia.
  • Acute lymphoblastic leukemia, Susceptibility to: Cancer of the white blood cells characterized by the presence of excessive lymphoblasts. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets. There are two subtypes of leukemia linked to a genetic anomaly which increases a person's susceptibility to developing the cancer. Type 1 is linked to a defect on chromosome 10q21 and type 2 is linked to a defect on chromosome 7p12.2.
  • Acute lymphoblastic leukemia, Susceptibility to, 1: Cancer of the white blood cells characterized by the presence of excessive lymphoblasts. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets. There are two subtypes of leukemia linked to a genetic anomaly which increases a person's susceptibility to developing the cancer. Type 1 is linked to a defect on chromosome 10q21.
  • Acute lymphoblastic leukemia, Susceptibility to, 2: Cancer of the white blood cells characterized by the presence of excessive lymphoblasts. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets. There are two subtypes of leukemia linked to a genetic anomaly which increases a person's susceptibility to developing the cancer. Type 2 is linked to a defect on chromosome 7p12.2.
  • Acute lymphoblastic leukemia, adult: Cancer of the white blood cells. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets.
  • Acute lymphocytic leukemia: A malignant disease that starts suddenly and progresses quickly. It is characterized by a high number of immature cells in the organs, bone marrow and blood. Symptoms include fever, pallor, anorexia, fatigue, anemia, hemorrhage, bone pain, splenomegaly and frequent infections. Also called acute lymphoblastic leukemia.
  • Acute meningitis: Acute meningitis is an inflammation of the brain that presents in an acute fashion. The inflammation may be the result of infective agents such as bacteria, viruses and fungi as well as non-infective agents such as certain drugs. Acute forms of meningitis can develop in within hours or days whereas chronic meningitis develops over weeks or months.
  • Acute mountain sickness: A condition that occurs when an un-acclimatized person climbs to high altitudes.
  • Acute myeloblastic leukemia type 6: A rare form of malignant bone marrow cancer involving the rapid proliferation of immature precursors of blood cells. Type 6 involves the proliferation of the immature precursors of red blood cells called erythroblasts.
  • Acute myelofibrosis: A rare condition where progressive scarring or fibrosis of the bone marrow impairs it's ability to make blood cells causing symptoms such as anemia and liver and spleen enlargement.
  • Acute myelosclerosis: A rare disorder where the bone marrow makes too many blood cells. The disease progresses rapidly with death usually occurring within 6 months of onset.
  • Acute pancreatitis: sudden inflammation of the pancreas
  • Acute panmyelosis: A rare condition where progressive scarring or fibrosis of the bone marrow impairs it's ability to make blood cells causing symptoms such as anemia and liver and spleen enlargement. The disease often progresses rapidly and results in death.
  • Acute promyelocytic leukemia: A rare bone marrow cancer characterized by a lack of mature blood cells and excessive amounts of immature blood cells (promyelocytes).
  • Acute respiratory distress syndrome, Infant: A breathing disorder that occurs in infants. The underdeveloped lungs fail to functioning adequately and the body becomes deprived of oxygen. The condition is more likely to affect premature infants and the greater the prematurity, the greater the risk.
  • Acute triglyceride-related symptoms: diseases which can cause an increase in the triglyceride level and hence lead to cholesterol related complications
  • Acute tubulointerstitial nephritis and uveitis syndrome: The association of a sudden kidney disorder with eye inflammation. Autoimmune processes are believed to be involved.
  • Acyl-CoA dehydrogenase, short chain, deficiency of: A rare disorder where the body lacks enzymes needed to convert some fats (short-chain fatty acids) into energy. Symptoms are exacerbated by fasting or acute illness. The severity of symptoms is variable with some patients remaining virtually asymptomatic their whole life while other suffer symptoms from infancy.
  • Adenoma, Islet Cell: A pancreatic tumor which may be benign or malignant. Symptoms may vary depending on the location and size of the tumor as well as whether the tumor secretes hormones or not. For example, the tumor may block the biliary duct.
  • Adenomatous Polyposis of the Colon, autosomal dominant: A genetic condition characterized by the development of adenomatous polyps mainly in the colon and rectum. There may be hundreds or thousands of polyps and these polyps have a predisposition for becoming cancerous. The condition is inherited in an autosomal dominant manner and occurs in a familial pattern. Most patients have at least one parent with the condition.
  • Adenosine deaminase, elevated, hemolytic anemia due to: A rare inherited disorder where there is a high level of an enzyme called adenosine deaminase in red blood cells. The high level of this enzyme results in premature destruction of red blood cells which ultimately leads to anemia. The severity of the anemia is determined by the level of excessive enzyme activity.
  • Adenosine triphosphatase deficiency, anaemia due to: Deficiency of a chemical (adenosine triphosphate) resulting in anemia.
  • Adenosine triphosphatase deficiency, anemia due to: A rare metabolic disorder where anemia is caused by a deficiency of the enzyme called adenosine triphosphatase.
  • Adenylate Kinase Deficiency: A rare genetic anomaly sometimes associated with hemolytic anemia.
  • Adrenal Cancer: A malignant cancer that develops in the adrenal gland. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids. Adrenalin and noradrenalin are the hormones made in the medulla (central part of the adrenal gland).
  • Adrenal Cortex Diseases: Diseases of the adrenal cortex. Examples includes Addison's disease, Cushing's syndrome and adrenal fatigue.
  • Adrenal adenoma, familial: A benign tumor that develops in the adrenal gland and tends to run in families. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids . Adrenalin and noradrenalin are the hormones made in the medulla (central part of the adrenal gland).
  • Adrenal gland hyperfunction: Excessive activity of the adrenal gland which causes excessive production of one or more adrenal hormones (aldosterone, corticosteroids, androgenic steroids, epinephrine and norepinephrine). The increased adrenal gland activity may be caused by an adrenal gland tumor or by excessive stimulation of the gland. Pituitary hormones stimulate adrenal gland activity.
  • Adrenal gland hypofunction: Reduced adrenal gland activity due to damage to the adrenal gland or lack of stimulation of the gland. Pituitary hormones stimulate adrenal gland activity.
  • Adrenal gland symptoms: Symptoms affecting the adrenal glands
  • Adrenal hemorrhage, neonatal: Hemorrhage of the adrenal gland after birth. The severity of the disorder is varies from a small hemorrhage to damage to the whole adrenal gland. Sometimes the condition is discovered incidentally during ultrasounds for other reasons. The hemorrhage may occur as the result of a variety of causes including adrenal tumor, neonatal stress, and blood coagulation disorder or for no apparent reason.
  • Adrenal hyperplasia, congenital type 3: A group of disorders that occur when a deficiency of 21-hydroxylase impairs the normal process of making adrenal corticosteroids. The severity of the condition is variable depending on the degree of deficiency.
  • Adrenal hypofunction: A condition which is characterized by a lack of production of hormones from the adrenal gland.
  • Adrenal hypoplasia congenital, X-linked: A genetic disorder which affects the body tissues that produce hormones. It is characterized by underdeveloped adrenal glands which results adrenal insufficiency and hypogonadotrophic hypogonadism.
  • Adrenal incidentaloma: A tumor of the adrenal gland that is discovered incidentally while performing an imaging examination for reasons other than an adrenal tumor. The tumor may be asymptomatic or can causes excessive secretion of adrenal hormones and resulting symptoms. The tumor may also be malignant or benign.
  • Adrenal medulla neoplasm: A tumor that develops in the part of the adrenal gland called the medulla which produces adrenalin and noradrenaline. The tumor is usually benign but can be malignant.
  • Adrenocortical carcinoma: A condition which is characterized by malignancy which affects the adrenocortex.
  • Adrenoleukodystrophy: A rare hereditary metabolic disease that only occurs in male children and is characterized by adrenal atrophy and extensive cerebral demyelination causing progressive loss of mental functioning, aphasia, apraxia and sometimes blindness. The patient usually dies within 5 years.
  • Adult Cystic Fibrosis: Cystic fibrosis is an inherited condition characterized by the production of thick sticky mucus by the mucus glands in the lungs, intestines, liver and pancreas. The condition is most often diagnosed in children or young adults but occasionally, relatively mild symptoms may lead to frequent misdiagnosis or no diagnosis at all unless the symptoms become worse. The condition may be misdiagnosed as emphysema, asthma or chronic bronchitis. It is usually females with a mild form of the disease who tend to be diagnosed at a later age.
  • Adult T-Cell leukemia: A form of blood cancer affecting the T-cells which make up the body's immune system. The disease is caused by the HTLV-1 virus (human T-cell leukemia virus) which causes the proliferation of abnormal T-cells. The virus can be transmitted sexually and may lay dormant for decades. There are four subtypes: acute, chronic, lymphoma and smoldering. The acute and lymphoma subtypes have the poorest prognosis.
  • Adult T-Cell lymphoma: A form of blood cancer affecting the T-cells which make up the body's immune system. The disease is caused by the HTLV-1 virus (human T-cell leukemia virus) which causes the proliferation of abnormal T-cells. The virus can be transmitted sexually and may lay dormant for decades. There are four subtypes: acute, chronic, lymphoma and smoldering. The acute and lymphoma subtypes have the poorest prognosis. The lymphoma subtype is aggressive and tends to affect the lymph nodes more than the blood.
  • Adult respiratory distress syndrome: A condition which is characterized by fulminant pulmonary interstitial alveolar oedema.
  • Adverse reaction to chemical -- 1,1-Dichloroethene: 1,1-Dichloroethene is a chemical used in packaging, food wraps, carpet backing, adhesives and steel pipe coating. Some people can suffer an adverse reaction to the chemical. The severity of symptoms varies amongst patients.
  • African Sleeping sickness: A disease caused by parasites (Trypanosome brucei gamiense or T. brucei rodesiense) and transmitted to humans by the tsetse fly which is found only in Africa. Causes symptoms such as fever, chills, headache, anemia, edema of hands and feet, enlarged lymph glands, lethargy, sleepiness, convulsions and coma. Also called African trypanosomiasis and sleeping sickness.
  • Aggressive NK-cell leukaemia: An aggressive form of blood cancer involving the rapid proliferation of natural killer (NK) cells.
  • Al Murrah-induced lead poisoning: Al Murrah is a folk remedy used mainly by Saudi Arabian people to treat problems such as stomach pain, diarrhea and colic. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Alarcon-induced lead poisoning: Alarcon is a folk remedy used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Albayaidle-induced lead poisoning: Albayaidle is a folk remedy used mainly by Mexican and Central American people to treat digestive or stomach problems such as vomiting and colic. It is also used to treat apathy and lethargy. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Albayalde-induced lead poisoning: Albayalde is a folk remedy used mainly by Mexican and Central American people to treat digestive or stomach problems such as vomiting and colic. It is also used to treat apathy and lethargy. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Albers-Schonberg disease -- Adult benign dominant form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The adult benign form is associated with a normal life expectancy and is often asymptomatic.
  • Albers-Schonberg disease -- intermediate form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The intermediate form is more severe than the adult form but less severe than the infantile form. Life expectancy is usually normal.
  • Albers-Schonberg disease -- malignant recessive form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The malignant infantile form is the most severe form of this disorder and death usually occurs in the first decade of life.
  • Albright's hereditary osteodystrophy: A rare genetic disorder where the body fails to recognize and respond to the parathyroid hormone. The parathyroid hormone is involved in controlling the blood levels of calcium and phosphate.
  • Aldolase A deficiency: A rare condition where a deficiency of the enzyme called aldolase A causes muscle problems and anemia.
  • Alkaline phosphatase elevation: Alkaline phospsphatase are a group of enzymes found in all tissues in the body but primarily in the liver, bile ducs, kidney, bone and placenta
  • Alkalosis: A condition that iscaused by the accumulation of base in the body.
  • Allopurinol hypersensitivity syndrome: An immune reaction to the ingestion of a drug called allopurinol. It is a potentially fatal disorder.
  • Aloe poisoning: Aleo vera is often used on the skin to treat such things as burns and dermatitis. The sap from the leaves contain a chemical called anthraquinone glycoside which can cause skin irritation in susceptible people but can also cause poisoning symptoms.
  • Alpers Syndrome: A rare syndrome characterized by liver disease, seizures and progressive, episodic psychomotor retardation.
  • Alpha thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Alpha thalassemia involves defects in one or more of the four genes required to make each ? protein chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
  • Alpha thalassemia trait: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Alpha thalassemia trait involves defects in two of the four genes required to make each ? protein chain. The main symptom is mild anemia which may go unnoticed in many people.
  • Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
  • Alsing syndrome: A rare syndrome characterized mainly by kidney problems, skeletal abnormalities and a hole in the coloboma of the eye.
  • Alstrom disease: A rage genetic disorder involving a group of abnormalities affecting vision, hearing, kidney function and also characterized by obesity and diabetes mellitus.
  • Alstrom syndrome: A rare, hereditary genetic disorder which is progressive. Initial symptoms in infants are usually extreme light sensitivity, wobbling of the eyes and sometimes dilated dilated cardiomyopathy and congestive heart failure. Young children quickly gain weight and become obese and as they get older, multiple organ systems may be affected causing blindness, hearing loss, type 2 diabetes, heart failure, liver disease, urological dysfunction, pulmonary fibrosis and renal failure.
  • Alström Syndrome: A progressive condition which is characterized by deafness, obesity and visual problems in childhood that may lead to diabetes and kidney failure in adulthood
  • Altered vital signs due to dehydration: Altered vital signs due to dehydration refers to a change in the pulse, breathing, blood pressure and/or body temperature as a result of a lack of sufficient fluid in the body.
  • Altered vital signs in case of diabetic ketoacidosis: Altered vital signs in case of diabetic ketoacidosis is a change in the pulse, breathing, blood pressure and/or body temperature as a result of diabetic ketoacidosis.
  • Altered vital signs in pulmonary embolism: Altered vital signs in pulmonary embolism refers to a change in the pulse, breathing, blood pressure and/or body temperature as a result of pulmonary embolism.
  • Aluminium toxicity: High body levels of aluminium resulting in symptoms. Usually occurs in patients with renal impairment.
  • Amebic dysentery: Intestinal inflammation caused by Entamoeba histolytica and often marked by symptoms such as frequent, loose bowel movements that contain blood and mucus. Also called intestinal amebiasis.
  • Amelo-cerebro-hypohidrotic syndrome: A rare syndrome involving degeneration of the central nervous system, seizures and abnormal tooth development.
  • Amlodipine toxicity: The toxic reaction of the body to the substance, possibly via allergic reaction or overdose.
  • Anaemia due to pyrimidine 5' nucleotidase deficiency: A rare inherited disorder where a deficiency of a particular enzyme (pryimidine 5' nucleotidase) causes hemolytic anemia. The anemia is usually mild.
  • Anaemia in pregnancy: Anaemia in pregnancy is a decreased haemoglobin concentration in the blood, often giving rise to weakness, pallor and breathlessness.
  • Anaemia, sideroblastic, X-linked -- ataxia: A very rare inherited disorder characterized by mild anemia and early onset neurological motor symptoms. The neurological symptoms tend to be relatively stable or slowly progressive with only occasional dependence on crutches or wheelchairs.
  • Analgesic nephropathy syndrome: Kidney damage caused by excessive use of pain-killing drugs. Aspirin and phenacetin mixtures are the most common causes.
  • Anemia: Reduced red blood cells in the blood
  • Anemia due to brucellosis: Anemia due to brucellosis is a low number of red blood cells that is the result of an infection with Brucella bacteria.
  • Anemia in children: Anemia in children is a low blood cell count in children.
  • Anemia in fetus: Anemia in a fetus is an abnormally low number of blood cells in a developing baby during pregnancy that can be caused by a variety of disorders, diseases and conditions.
  • Anemia in newborn: Anemia in a newborn is an abnormally low number of blood cells in a newborn baby that can be caused by a variety of disorders, diseases and conditions.
  • Anemia in pregnancy: Low haemoglobin count in a woman who is pregnant.
  • Anemia, Blackfan Diamond: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. The severity of symptoms is variable but most cases are serious.
  • Anemia, Hemolytic, Warm Antibody: A rare autoimmune condition where the body's defense system attacks and destroys red blood cells. The onset of the condition is triggered by temperatures 37ºC or higher. The severity of the disorder is variable.
  • Anemia, Iron-Deficiency: A lack of fully functioning red blood cells due to a deficiency of iron. The iron allows the body to make hemoglobin in red blood cells which in turn allows the red blood cell to carry oxygen.
  • Anemia, Neonatal: Insufficient red blood cells that can carry oxygen around the body. It is common in premature births or can occur as a result of blood loss before, during or just after the birth.
  • Anemia, Refractory, with Excess of Blasts: A bone marrow disease which results in insufficient red blood cells in the blood (anemia). The prognosis is poor with death usually occurring within a couple of years. There are two types: type 1 refers to cases where the level of blasts is less than 10% and type 2 refers to cases where the level of blasts is 10-20%. When too many immature blood cells (blasts) are produced by the bone marrow, the condition may progress to acute myeloid leukemia - occurs in about a quarter of cases in type 1 and a third of cases in type 2.
  • Anemia, Refractory, with Excess of Blasts, type 1: A bone marrow disease which results in insufficient red blood cells in the blood (anemia). The prognosis is poor with death usually occurring within a couple of years. Type 1 refers to cases where the level of blasts is less than 10% and type 2 refers to cases where the level of blasts is 10-20%. When too many immature blood cells (blasts) are produced by the bone marrow, the condition may progress to acute myeloid leukemia - occurs in about a quarter of cases in type 1.
  • Anemia, Refractory, with Excess of Blasts, type 2: A bone marrow disease which results in insufficient red blood cells in the blood (anemia). The prognosis is poor with death usually occurring within a couple of years. Type 1 refers to cases where the level of blasts is less than 10% and type 2 refers to cases where the level of blasts is 10-20%. When too many immature blood cells (blasts) are produced by the bone marrow, the condition may progress to acute myeloid leukemia - occurs in about a third of cases in type 2.
  • Anemia, Sideroblastic: A rare blood disorder where abnormal utilization of iron results in the production of defective red blood cells which have excessive deposits of iron in them.
  • Anemia, sideroblastic spinocerebellar ataxia: A rare inherited condition characterized by anemia at birth as well as spinocerebellar ataxia (impaired ability to control voluntary movements).
  • Anemias, Sideroblastic: Sideroblastic anemias are a group of rare blood disorders where the bone marrow is unable to produce normal red blood cells. The body has enough iron but the red blood cells are unable to utilize it in a normal manner and anemia results. The red blood cells become overloaded with iron and are unable to carry out their normal functions. Some forms of sideroblastic anemia are inherited but most tend to be acquired due to such things as exposure to toxins and certain drugs, leukemia, inflammatory conditions such as rheumatoid arthritis and nutritional deficiencies (e.g. copper and pyridoxine deficiency). Inherited forms usually appear in childhood whereas acquired forms usually occur in adulthood.
  • Anemic -- hematuria syndrome: An epidemic disease in Argentina which has a prolonged recovery time but usually there are no complications. Symptoms vary between seasons so that affected patients suffer anorexia, vomiting, diarrhea and dehydration in summer but suffer reduced urination, excess blood, albumin and renal casts in the urine. Other symptoms occur irrespective of the season.
  • Angiodysplasia: Abnormality of small blood vessels - especially in the intestinal tract - which can result in bleeding. The size of the lesion involved determines the severity of the condition. Small amounts of bleeding from one lesion often goes unnoticed but multiple large lesions may cause heavy bleeding and result in black tarry stool and anemia.
  • Angiofollicular ganglionic hyperplasia: A rare disorder characterized by a localized overgrowth of lymph node tissue which can form a benign tumor-like growth. The symptoms are determined by the location and number of growths. There are two types of the disease: hyaline-vascular type or the plasma cell type which tends to have more severe symptoms.
  • Angiofollicular ganglionic hyperplasia -- plasma cell type: A rare disorder characterized by a localized overgrowth of lymph node tissue which can form a benign tumor-like growth. There are two types of the disease: hyaline-vascular type or the plasma cell type which tends to have more severe symptoms. The plasma-cell type tends to involve systemic symptoms such as fever and weight loss due to the destruction of red blood cells.
  • Angiofollicular lymph hyperplasia: A rare disorder of the lymph system characterized by the development of benign tumors in lymph tissue anywhere in the body.
  • Angioimmunoblastic T-cell lymphoma: A form of cancer which tends to be systemic in nature and thus cancer cells can be found in various parts of the body such as the lymph nodes, liver, spleen, skin and bone marrow.
  • Angiosarcoma: A rare, aggressive malignant tumor of the blood vessel cells. Also called hemangiosarcoma, malignant hemangioendothelioma.
  • Ankle blueness: A blue discolouration of the ankle
  • Ankylosing Spondylitis: A form of chronic inflammation of the spine which may also affect joints in the shoulder, hip, neck, ribs and jaw. May result in loss of mobility. Also called Marie-Strumpell disease.
  • Anophthalmia -- short stature -- obesity: A very rare syndrome characterized by absent eyes, short stature and obesity.
  • Anorexia Nervosa: A disorder where a distorted sense of body image leads to self-starvation to the point of death in some cases.
  • Ansell-Bywaters-Elderking syndrome: A rare familial syndrome characterized mainly by mental retardation, rash, eye inflammation and joint disease.
  • Anterior pituitary hyperhormonotrophic syndrome: A syndrome characterized by the excessive production of various hormones (gonadotrophic, thyrotrophic, lactotrophic and pancreatrophic hormone).
  • Anti DNA antibody: An elevated amount of the anti-DNA antibody in the blood
  • Anti-DNAse B: The presence of anti-DNAse B antibody in the blood system
  • Anti-GAD antibodies: The presence of antibodies in the blood which inhibit the production of GABA
  • Anti-Ri: The presence of antibodies in the blood to purkinje cells
  • Anti-ganglioside antibodies: The presence of anti-ganglioside antibodies in the blood
  • Anti-glomerular basement membrane antibody-mediated disease: A kidney disorder involving varying degrees of kidney impairment. Severe cases lead to kidney failure whereas mild cases have normal kidney function.
  • Anti-staphylococcal: The presence of anti-staphylococcal antibodies in the blood system
  • Anti-yo: The presence of antibodies in the blood to purkinje cells
  • Antibodies to myelin basic protein: The presence of antibodies to myelin basic protein present in the blood
  • Antiphospholipid syndrome: An autoimmune disorder characterized by blood clots and pregnancy losses.
  • Antithyroid drugs -- Teratogenic Agent: There is strong evidence to indicate that the use of Antithyroid drugs during pregnancy may cause a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Aplastic anemia: A blood disorder where the bone marrow produces insufficient new blood cells.
  • Apo A-I deficiency: Low plasma HDL cholesterol that tends to run in families.
  • Apolipoprotein C 2I deficiency: A rare inherited condition where a deficiency of apolipoprotein C-II impairs lipoprotein metabolism and results in a build up of chylomicrons and VLDL.
  • Apparent Mineralocorticoid Excess, type 2: A form of inherited high blood pressure that starts during early childhood. The condition is caused by a genetic defect which results in an inborn error of metabolism of peripheral cortisol. Type 2 causes similar symptoms to type 1 but the urinary steroid levels are different.
  • Apparent mineralocorticoid excess: A form of inherited high blood pressure that starts during early childhood. The condition results from a genetic defect which causes impaired metabolism of cortisol.
  • Arginase deficiency: A very rare urea cycle disorder caused by a deficiency of the enzyme (arginase) needed to convert ammonia to the urea which can then be removed in the urine. The condition leads to excess build-up of ammonia in the body which is toxic to the nervous system.
  • Argininosuccinic aciduria: A rare inherited disorder of the urea cycle characterized by the lack of an enzyme (argininosuccinate lyase) which is needed to remove nitrogen from the body so a lack of the enzyme leads to a build-up of ammonia in the blood.
  • Arizona Bark Scorpion poisoning: A bite from the Arizona Bark scorpion contains chemicals toxic to the nerve system and can cause serious, life-threatening symptoms.
  • Arm blueness: A blue discolouration of the arm
  • Arthritis -- short stature -- deafness: A very rare syndrome characterized by arthritis, short stature, deafness and numerous other abnormalities.
  • Arthrogryposis -- renal dysfunction -- cholestasis syndrome: A very rare syndrome characterized by joint contractures, kidney dysfunction and liver problems.
  • Aseptic abscesses syndrome: A rare syndrome involving the development of deep, sterile lesions containing neutrophils. The lesions don't respond to antibiotics but do respond to corticosteroid therapy. The abscesses usually occur in the abdomen and are often associated with conditions such as inflammatory bowel disease and polychondritis. Although the abscesses respond to corticosteroids, more than half of the cases relapse.
  • Asparatate aminotransferase elevation: elevation of asparatate aminotransferase in the serum is seen in acute liver injury, but it is also present in red blood cells, cardiac and skeletal muscles and is therefore not specific to the liver
  • Asphyxia neonatorum: Respiratory failure in a newborn.
  • Asrar-Facharzt-Haque syndrome: A form of sinus histiocytosis characterized by lymphadenopathy as well as involvement of other tissues such as the sinus cavity, skin, lungs, bone, eyes, kidneys, testes, head and neck area and the central nervous system. Symptoms vary according to the organ involved. The condition usually runs a prolonged course with spontaneous remission occurring in some cases. Rare cases may be fatal.
  • Ataxia -- diabetes -- goiter -- gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Atherosclerosis: A condition which is a form of arteriosclerosis where atheromas are caused by the aggregation of cholesterol and lipids
  • Atransferrinemia: A rare inherited condition characterized by the absence of a compound called transferring which results in a buildup of iron in the body's tissues as well as anemia.
  • Attenuated familial polyposis: A genetic condition characterized by the development of adenomatous polyps mainly in the colon and rectum. There may be hundreds or thousands of polyps and these polyps have a predisposition for becoming cancerous. The attenuated form of the condition is distinguished by the development of polyps in old age rather than during the first decades of life.
  • Atypical hemolytic uremic syndrome: A rare condition characterized by hemolytic anemia, thrombocytopenia and kidney failure that has no obvious cause.
  • Autoantibodies to voltage gated calcium channels: The presence of autoantibodies to voltage gated calcium channels
  • Autoimmune Hemolytic Anemia: Autoimmune hemolytic anemia is characterized by an abnormal immune system response which leads to the destruction of red blood cells and hence anemia. The severity of the condition varies depending on the underlying cause e.g. cytomegalovirus, hepatitis, HIV and lupus. The condition may develop gradually or occur suddenly and cause serious symptoms.
  • Autoimmune Lymphoproliferative Syndrome: An inherited autoimmune condition characterized by proliferation of lymphocytes and autoimmunity against the body's own blood cells resulting in premature death of certain blood cells.
  • Autoimmune Thrombocytopenia: Autoimmune disorder causing a lack of blood platelets.
  • Autoimmune enteropathy, type 1: A rare condition involving autoimmune problems which can variably manifest as enteropathy (diarrhea), hemolytic anemia, and endocrine gland diseases such as diabetes mellitus and thyroid disease. Resistance to viral infections is poor. The condition is life-threatening, especially during infancy and early childhood. As the condition is inherited in a X-linked manner, males tend to suffer severe symptoms whereas females suffer few if any symptoms as they are a carrier of the condition.
  • Autoimmune polyendocrinopathy syndrome, type 1: A very rare autoimmune disorder characterized by autoimmune polyendocrinopathy (APE), candidiasis (C) and ectodermal dysplasia (ED).
  • Autoimmune thyroid disease associated Celiac Disease: Patients with autoimmune thyroid disease are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
  • Autosomal Recessive Polycystic Kidney Disease: Severe form of PKD, a genetic kidney disease.
  • Avitaminosis: A group of diseases caused by the deficiency of one or more vitamins e.g. Beriberi (thiamine deficiency), rickets (Vitamin D deficiency), pellagra (niacin deficiency), pernicious anemia (Vitamin B12), bleeding (vitamin K deficiency) and night blindness (avitaminosis A). Symptoms depend on the type and degree of vitamin deficiency. Lack of various vitamins can affect just about every part of the body including the nervous system.
  • Azarcon-induced lead poisoning: Azarcon is a lead-containing tetraoxide salt used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • B-cell chronic lymphocytic leukemia: A slow progressing disease involving cancerous B-cell lymphocytes which take over the healthy cells in the lymph nodes. B-cells help the body to fight infections so when the disease becomes more advanced, the body is less able to fight infection as there are fewer healthy, functioning B-cells.
  • Ba Bow Sen-induced lead poisoning: Ba Bow Sen is a folk remedy used mainly by Chinese people to treat childhood hyperactivity and to alleviate nightmares. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Babesiosis: A protozoal infection which is transmitted to human via the bite of certain ticks.
  • Back blueness: A blue discolouration on the back
  • Bacteremia: A condition where bacteria is present in the blood.
  • Bacterial diseases: Diseases caused by a bacterial infection
  • Bacterial meningitis: Bacterial meningitis is a form of meningitis caused by bacteria that normally lives in the mouth and throat. When the immune system is unable to supress this bacteria, it travels to the cerebrospinal spinal fluid in the brain. From there it affects the membranes surrounding the brain.
  • Bacterial toxic-shock syndrome: A very rare, potentially fatal infection caused by toxins produced by bacteria, especially bacteria such as Staphylococcus aureus or Streptococcus pyogenes. The condition is often associated with tampon use but can originate from other sources.
  • Baker-Winegrad disease: A very rare syndrome caused by a deficiency of the enzyme fructose-1-6-diphosphatase which impairs the body's ability to break down fructose that is consumed in the diet.
  • Bali goli-induced lead poisoning: Bali goli (flat black bean) is a folk remedy used mainly by Indian and Asian people to treat intestinal problems. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Bamforth syndrome: A rare syndrome characterized mainly by the association of an abnormal opening in the roof of the mouth and reduced thyroid functioning.
  • Bangstad syndrome: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Banti Syndrome: A rare conditions where chronic congestive spleen enlargement causes it to destroy red blood cells too early. The spleen becomes enlarged due to an obstruction of blood flow in the organ and the resulting increase in blood pressure.
  • Banti's syndrome: A chronic, progressive condition marked by enlargement of the spleen which is associated with anemia, splenomegaly, ascites, jaundice, leucopenia, thrombocytopenia and gastrointestinal bleeding.
  • Barakat syndrome: A rare condition characterized by deafness, kidney disease and insufficiency parathyroid hormone production.
  • Bard-Pic syndrome: A complication of advanced pancreatic cancer marked by jaundice and enlarged gallbladder.
  • Bartonella infections: Infection with bacteria from the Bartonella genus of bacteria. Specific bacteria from within this group are Bartonella bacilliforms (Oroya fever), Bartonella Heneslae (Cat-scratch disease). Other conditions caused by this bacteria are endocarditis, bacteremia and angiomatosis. Symptoms vary depending on the type of bacteria involved and the severity of the infection - immunocompromised patients face greater risk of severe infection.
  • Bartonellosis: An infection by Bartonella bacilliformis which is transmitted through sandfly bites. Symptoms include fever, severe anemia, bone pain and skin lesions. Also called Carrion's disease, Oroya fever or verruga peruana.
  • Bartter Syndrome: A rare genetic disorder of kidney metabolism characterized by reduced blood acidity and low potassium levels.
  • Bartter Syndrome type 4: Bartter syndrome is a rare disorder where abnormal kidney metabolism results in low blood acidity an potassium levels. Type 4 also involves sensorineural deafness.
  • Bartter Syndrome type 4A: Bartter syndrome is a rare disorder where abnormal kidney metabolism results in low blood acidity an potassium levels. Type 4A also involves sensorineural deafness.
  • Bartter Syndrome type 4B: Bartter syndrome is a rare disorder where abnormal kidney metabolism results in low blood acidity an potassium levels. Type 4B also involves sensorineural deafness.
  • Basophilic stippling in blood smear: Basophilic stippling in blood smear is an abnormal finding on a blood smear test that may indicate lead poisoning and other conditions.
  • Basophilic stippling in blood smear in children: Basophilic stippling in blood smear in children is an abnormal finding on a child's blood smear test that may indicate lead poisoning and other conditions.
  • Beer-drinker syndrome: Symptoms that can occur when large amounts of beer is consumed with little or no food.
  • Bence Jones Proteins: The presence of free light chains in the urine
  • Bence jones protein: Bence Jones protein is a type of abnormal protein that may be found in the urine associated with certain conditions and diseases that produce high levels of protein in the urine.
  • Berardinelli-Seip congenital lipodystrophy: A rare genetic disorder characterized by diabetes mellitus, loss of body fat, hepatomegaly, enlarged genitals, increased skeletal growth and other abnormalities.
  • Berardinelli-Seip congenital lipodystrophy, type 1: A rare genetic disorder characterized by early-onset diabetes mellitus, loss of body fat, serious insulin resistance, high blood triglycerides and fatty liver. Type 1 is distinguished from type 2 by the origin of the genetic defect. Type 1 is caused by a defect on the AGPAT2 gene on chromosome 9q34.3. Type 1 seems to be less severe with some cases of type 2 resulting in premature death which can occur as early as the first year of life. Type 2 also involves mental retardation which is not seen in type 1.
  • Berardinelli-Seip congenital lipodystrophy, type 2: A rare genetic disorder characterized by early-onset diabetes mellitus, loss of body fat, serious insulin resistance, high blood triglycerides and fatty liver. Type 2 is distinguished from type 2 by the origin of the genetic defect. Type 2 is caused by a defect on the BSCL2 gene on chromosome 11q13. Type 2 seems to be more severe with some cases resulting in premature death which can occur as early as the first year of life. Type 2 also involves mental retardation which is not seen in type 1.
  • Besnier-Boeck-Schaumann disease: A rare disease where inflammatory granular nodules form in various organs.
  • Beta Thalassemia trait: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. There are two subtypes of the disorder (alpha and beta) depending on what portion of the hemoglobin is abnormally synthesized. Beta Thalassemia trait involves defects in one of the two genes required to make each ? protein chain. Mild anemia is usually the only symptom.
  • Beta thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Beta thalassemia involves defects in one or more of the two genes required to make each ? protein chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
  • Beta-Glutamylcysteine synthetase deficiency: A rare disorder of amino acid metabolism where deficiency of the enzyme called Beta-Glutamylcysteine synthetase impairs the body's ability to metabolize sulfur-containing amino acids.
  • Beta-gamma bridging: An increase in the number of proteins lying between beta and gamma on electrophoresis
  • Bilateral abductor vocal cord paralysis syndrome: A complication that can occur following the removal of the thyroid gland.
  • Bile plug syndrome: A rare condition where thick bile in infants causes blockage of the bile ducts which can result in jaundice, enlarged liver and anemia.
  • Bing-Neel syndrome: A rare disorder involving infiltration of the central nervous system by abnormal leukemia-like cells (lymphoplasmocytoid cells) that occur in Waldenström's macroglobulinemia. The abnormality increases blood viscosity which impairs its circulation through small brain and eye blood vessels.
  • Binswanger Disease: Multi-infarct dementia, caused by damage to deep white matter.
  • Binswanger's Disease: A type of senile dementia characterized by chronic cerebrovascular disease.
  • Bint Al Zahab-induced lead poisoning: Bint Al Zahab is a folk remedy used by various ethnic groups (e.g. Indians, Saudi Arabians) to treat infant colic and to facilitate the passage of meconium in newborns. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Birth symptoms: Symptoms related to childbirth.
  • Black widow spider envenomation: The black widow spider bite is toxic to the nerves and can cause serious symptoms. The black widow spider is most commonly found in North America.
  • Bleeding symptoms: Any type of bleeding symptoms.
  • Bleeding tendencies: defect in the haemostasis mechanism
  • Blethen-Wenick-Hawkins syndrome: A rare syndrome characterized mainly by short stature, skeletal abnormalities and reduced pituitary gland functioning.
  • Blood abnormalities: Any abnormalities in tests conducted on blood
  • Blood clot: A coagulum that is located in the blood stream due to the aggregation of blood factors
  • Blood clot in pregnancy: Blood clot in pregnancy is relatively common and is caused largely by physiological factors related to pregnancy, but can also be caused by pathology unrelated to pregnancy.
  • Blood clots: Multiple coagulums that are located in the blood stream due to the aggregation of blood factors
  • Blood clots in pregnancy: Blood clots in pregnancy are relatively common and are caused largely by physiological factors related to pregnancy, but can also be caused by pathology unrelated to pregnancy.
  • Blood conditions: Conditions that affect the blood
  • Blood count signs: Blood count signs refers to a variety of diagnostic parameters that can be determined on a blood count test.
  • Blood decreased pH: A decrease in the pH acid balance of the blood
  • Blood increased pH: An increase in the pH acid balance of the blood
  • Blood infection:
  • Blood lead concentration: The level of lead concentration in the blood
  • Blood lipid symptoms: Symptoms affecting the lipids such as cholesterol in the blood.
  • Blood lithium concentration: The level of lithium concentration in the blood
  • Blood symptoms: Symptoms affecting the blood and its blood cells.
  • Blue face in children: Blue face in children, sometimes called facial cyanosis, can occur due to a lack of oxygen in the cells of the face, among other causes.
  • Blue hands: Blue appearance of the hands
  • Blue hands in children: Blue hands in children, sometimes called cyanosis, can occur due to a lack of oxygen in the cells of the hands, extreme cold, and other causes.
  • Blue lips: Blueness or discoloration of the lips
  • Blue lips in children: Blue lips in children, sometimes called cyanosis, occurs due to extreme cold, a lack of oxygen in the cells of the lips, and other causes in children.
  • Blue nails: A condition which is characterized by the occurrence of nails that are blue in appearance
  • Blue nails in children: Blue nails in children, sometimes called cyanosis, occurs due to extreme cold, a lack of oxygen in the cells of the skin under the nails, and other causes in children.
  • Blue skin: Blueness of the skin
  • Blue tongue: A symptom which occurs when the tongue is blue in appearance
  • Blue tongue in children: Blue tongue in children, sometimes called tongue cyanosis, can occur due to a variety of conditions, including a lack of oxygen in the tongue cells.
  • Bluish black discoloration of the mucous membrane: decreased in the oxygen saturation of the mucous membrane also known as cyanosis
  • Bluish discoloration of both arms: Bluish discoloration of both arms, sometimes called cyanosis, is an abnormally blue tint or coloring of both arms.
  • Bluish discoloration of both hands: Bluish discoloration of both hands, sometimes called cyanosis, refers to a condition in which there is a blue tone or tint of both hands.
  • Bluish discoloration of one arm: Bluish discoloration of one arm, sometimes called cyanosis, occurs when one arm appears bluish.
  • Bluish discoloration of one hand: Bluish discoloration of one hand refers to an abnormal bluish color of one hand, sometimes called cyanosis.
  • Bluish discoloration of the mucous membrane: decreased in the oxygen saturation of the mucous membrane also known as cyanosis
  • Bluish discoloration of the skin: Cyanosis is a bluish discoloration of the skin or mucous membranes caused by lack of oxygen in the blood .
  • Bluish discoloration of the skin similar to that in case of acute severe asthma: decreased in the oxygen saturation, also known as cyanosis
  • Bluish discoloration of the skin similar to that in the case of acute severe asthma: Bluish discoloration of the skin similar to that in the case of acute severe asthma is an abnormal bluish coloration of the skin that is due to a lack of oxygen that is delivered to the body's cells.
  • Body symptoms: Symptoms affecting the entire body features.
  • Boichis syndrome: A rare syndrome involving nephronophthisis (progressive destruction of kidney tissue) from birth which leads to kidney failure and liver fibrosis.
  • Bokhoor-induced lead poisoning: Bokhoor is a traditional used mainly by Saudi Arabian people to calm infants - it involves burning wood and lead sulphide and inhaling the fumes that are produced. This practice has the potential to cause lead poisoning due to the relatively high exposure to lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Bone and cartilage tumors: Any tumors affecting the bones or cartilage, including both cancerous and benign tumors.
  • Bone marrow failure -- neurologic abnormalities: A rare syndrome characterized by the association of bone marrow failure and neurological abnormalities.
  • Bone symptoms: Symptoms affecting the body's bones
  • Bone-Marrow failure syndromes: A disorder where the bone marrow fails to produce enough new blood cells.
  • Bothriocephalosis: Infection with an intestinal parasite. The parasite is a fish tapeworm called Diphyllobothrium latum. Human infection is caused by eating undercooked contaminated fish.
  • Boutonneuse fever: An infectious disease that is caused by Rickettsia conorii which is transmitted by the brown dog tick (Rhipicephalus sanguineus). The disease occurs predominantly in Mediterranean areas such as India and Africa. The onset of symptoms is usually sudden and the incubation period is usually between 6 and 10 days.
  • Breast blueness: A blue discolouration on the breast or breasts
  • Bronchiectasis: Chronic bronchiole dilation from secretions and blockages.
  • Brown Recluse spider poisoning: The Brown Recluse spider is poisonous and is found mainly in southern and central areas of the US.
  • Brown-Sequard Syndrome: A disorder where spinal cord compression and lesions involve only half of the spinal cord.
  • Brucellosis: An infectious disease caused by the Brucella genus which is transmitted from animals to humans.
  • Bruch's disease: An infectious disease that is caused by Rickettsia conorii which is transmitted by the brown dog tick (Rhipicephalus sanguineus). The disease occurs predominantly in Mediterranean areas such as India and Africa. The onset of symptoms is usually sudden and the incubation period is usually between 6 and 10 days.
  • Brunzell syndrome: A rare recessively inherited syndrome characterized by a lack of skin fat (Seip syndrome), cystic angiomatosis of the long bones which can lead to fractures.
  • Bufotenine poisoning: The skin glands of certain toads (Cane toad and Colorado river toad) contain a poison called bufotoxin.
  • Bulimia nervosa: Eating disorder with binging (overeating) and purging (vomiting).
  • Bullis fever syndrome: A disease transmitted through tick bites (Ambylomma americanum). Symptoms include fever, rash and headache. The disease was first observed in soldiers training at Camp Bullis in America.
  • Buttock blueness: A blue discolouration on the buttocks
  • CATCH 22: A term used to describe a group of disorders resulting from a deletion on chromosome 22q11 and involving heart and face abnormalities, T cell deficit due to an underdeveloped thymus, cleft palate, low blood calcium due to hypothyroidism. This term tends to include disorders such as Shprintzen syndrome, velocardiofacial syndrome, DiGeorge syndrome and Takao syndrome.
  • CDG syndrome type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • CDG syndrome type 1B: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1B has a phosphomannose isomerase enzyme defect.
  • CML-Like Syndrome, Familial: A very rare condition characterized by symptom similar to myelocytic leukemia that develop during infancy. The condition can result in death during the first years of life.
  • CMV antenatal infection: A rare condition where a fetus becomes infected with the cytomegalovirus through the mother.
  • COPD: Severe obstruction of bronchial air flow typically from bronchitis and/or emphysema.
  • Cadmium poisoning: A type of heavy metal poisoning caused by excessive exposure to cadmium.
  • Calf blueness: A blue discolouration on the calf or calves
  • Callistin shellfish poisoning: The Callistin shellfish (Japanese Callista) is found primarily in Japan. Eating the whole shellfish can cause poisoning symptoms in humans. It is believed that the ovaries contain high levels of choline during spawning season which makes them toxic to humans. The symptoms that manifest are similar to a severe allergic reaction. Avoiding eating the ovaries is the best way to prevent poisoning - cooking does not destroy the toxin.
  • Camurati Engelmann disease, type 2: A rare disorder (described in two patients) which has similar symptoms to the genetic condition called Camurati Engelmann disease but the genetic defect responsible for type 1 is not present in type 2. Type 2 has additional bone abnormalities which were noted on radiographs. Patients tend to suffer flare-ups of their condition which is accompanied by severe pain which may leave the patient incapacitated. Flare-ups can be triggered or made worse by stress, exhaustion, exercise, growth spurts, standing too long, walking too long, infection, illness, injury, surgery, cold weather and sudden changes in air pressure.
  • Carbamoyl-phosphate synthase 1 deficiency: A very rare inherited urea cycle disorder where the lack of the enzyme carbamoyl phosphate synthetase prevents ammonia from being turned into urea and being excreted in the urine. Excess ammonia builds up in the body which can cause serious complications or even death if left untreated.
  • Carbohydrate deficiency glycoprotein syndrome type II: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2 is caused by a genetic defect which involves the gene for a particular enzyme (Golgi localized N-acetyl-glucosaminyltransferase II). Type 2 tends to have more severe psychomotor retardation than type 1 but there is no peripheral neuropathy or underdeveloped cerebellum.
  • Cardiomyopathy -- hypotonia -- lactic acidosis: A rare syndrome characterized by heart muscle disease, reduced muscle tone and lactic acidosis from birth.
  • Cardiomyopathy -- spherocytosis: A rare disorder characterized by the association of spherocytosis with heart muscle disease. Spherocytosis is a red blood cell disorder where the red blood cells have abnormal membranes which gives them a spherical shape and makes them weak resulting in their premature death.
  • Carnitine Palmitoyl Transferase I Deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase 1) prevents fatty acids being transported to the part of the cell that converts it to energy.
  • Carnitine Palmitoyl Transferase II Deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase 1) prevents fatty acids being transported to the part of the cell that converts it to energy. There are two main subtypes of the disorder with each involving a slightly different form of the enzyme. Type I can be readily managed through diet. Type II has three subtypes: the myopathic form affects mainly the muscles; the hepatocardiomuscular form affects the liver and heart muscle; and the lethal neonatal form affects muscles and organs and usually results in death during the first year of life.
  • Carnitine palmitoyl transferase 1 deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase I) prevents fatty acids being transported to the part of the cell that converts it to energy.
  • Carnitine palmitoyl transferase 2 deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase) which prevents fatty acids being transported to the part of the cell that converts it to energy. There are two main subtypes of the disorder with each involving a slightly different form of the enzyme. Type I can be readily managed through diet. Type II has three subtypes: the myopathic form affects mainly the muscles; the hepatocardiomuscular form affects the liver and heart muscle; and the lethal neonatal form affects muscles and organs and usually results in death during the first year of life.
  • Carnitine palmitoyl transferase II deficiency, infantile hepatocardiomuscular type: A very rare metabolic disorder where deficiency of a particular enzyme (CPT II) prevents muscle fats being converted to energy. The infantile form of this disease affects the muscles and the liver and heart.
  • Carnitine palmitoyl transferase deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase) which prevents fatty acids being transported to the part of the cell that converts it to energy. There are two main subtypes of the disorder with each involving a slightly different form of the enzyme. Type I can be readily managed through diet. Type II has three subtypes: the myopathic form affects mainly the muscles; the hepatocardiomuscular form affects the liver and heart muscle; and the lethal neonatal form affects muscles and organs and usually results in death during the first year of life.
  • Carnitine transporter deficiency: An inherited deficiency of carnitine caused by the impaired ability of the carnitine transporter protein to carry the carnitine to where it is needed. Instead the carnitine is excreted through the urine. Fasting or illness can trigger a severe attack.
  • Carnitine-acylcarnitine translocase deficiency: A very rare inherited metabolic disorder where long-chain fatty acids can't be metabolized properly because the compound needed to transport it is faulty. Ultimately this prevents certain fats (long-chain acylcarnitine) being converted to energy and results in a build up of the fat which is harmful to body organs and tissues.
  • Cataract and cardiomyopathy: A rare syndrome characterized by the association of congenital cataracts, heart muscle disease, lactic acidosis and skeletal muscle disease. The disorder involves the abnormal storage of lipids and glycogen in the skeletal and heart muscles. The cataracts progress rapidly and require surgery. The severity of the disorder ranges from stillbirth to survival into the fourth decade.
  • Cebagin-induced lead poisoning: Cebagin is a folk remedy used mainly by Middle Eastern people to treat teething. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Celiac Disease: Digestive intolerance to gluten in the diet.
  • Celiac disease -- epilepsy -- occipital calcifications: A rare syndrome characterized by celiac disease and epilepsy with brain calcifications.
  • Celiac disease, susceptibility to 1: The susceptibility to developing celiac disease due to a genetic defect on chromosome 6p21.3. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celiac disease, susceptibility to 10: The susceptibility to developing celiac disease due to a genetic defect on chromosome 3q25-q26. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celiac disease, susceptibility to 11: The susceptibility to developing celiac disease due to a genetic defect on chromosome 3q28. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celiac disease, susceptibility to 12: The susceptibility to developing celiac disease due to a genetic defect on chromosome 6q25.3. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celiac disease, susceptibility to 13: The susceptibility to developing celiac disease due to a genetic defect in the SH2B3 gene on chromosome 12q24. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celiac disease, susceptibility to 2: The susceptibility to developing celiac disease due to a genetic defect on chromosome 5q31-q33. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celiac disease, susceptibility to 3: The susceptibility to developing celiac disease due to a genetic defect on chromosome 2q33. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celiac disease, susceptibility to 4: The susceptibility to developing celiac disease due to a genetic defect on chromosome 19p13.1. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celiac disease, susceptibility to 5: The susceptibility to developing celiac disease due to a genetic defect on chromosome 15q11-q13. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celiac disease, susceptibility to 6: The susceptibility to developing celiac disease due to a genetic defect on chromosome 4q27. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celiac disease, susceptibility to 7: The susceptibility to developing celiac disease due to a genetic defect on chromosome 1q31. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celiac disease, susceptibility to 8: The susceptibility to developing celiac disease due to a genetic defect on chromosome 2q11-q12. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Celiac disease, susceptibility to 9: The susceptibility to developing celiac disease due to a genetic defect on chromosome 3p21. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
  • Central cyanosis: bluish discoloration of the skin and the mucous membrane.
  • Cephalothoracic progressive lipodystrophy: A rare acquired disorder that involves adipose tissue abnormalities and is characterized by loss of adipose tissue mainly in the trunk and arms.
  • Chagas disease: A parasitic infection caused by the protozoa Trypanosoma cruzi and transmitted by insect bites or blood transfusions. The disease primarily involves the heart and gastrointestinal system.
  • Chediak-Higashi Syndrome: An inherited immune system disorder resulting in frequent infections, lack of skin and eye pigmentation, neurological diseases and early death.
  • Chediak-Higashi like syndrome: A rare genetic disorder characterized mainly by albinism (lack of pigmentation). There are three different subtypes of the disorder (I, II and III) each with varying additional features such as immunodeficiency and neurological symptoms. Type 1 involves partial albinism and neurological symptoms, type II involves partial albinism, immunodeficiency and sometimes neurological symptoms and type III involves albinism only.
  • Chemical poisoning -- 1,1-Dimethylhydrazine: 1,1-Dimethylhydrazine is a chemical used mainly in jet fuel and rocket fuel, plant growth agent, photography and various other industrial uses. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- 1,3-Dichloropropene: 1,3-Dichloropropene is a chemical used in solvents and soil fumigants for nematode control. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- 1,3-Dinitrobenzene: 1,3-Dinitrobenzene is a chemical used mainly in explosives. The chemical can be readily absorbed through the skin and cause systemic symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- 2,4,6-Trinitrotoluene: 2,4,6-Trinitrotoluene is a chemical used mainly as an explosive agent and in the production of dyes and photographic chemicals. The chemical may be absorbed through the skin. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- 2-Methyl-4-Chlorophenoxyacetic Acid: 2-Methyl-4-Chlorophenoxyacetic Acid is a chemical mainly used as a herbicide for field crops and turf. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Acetylene Tetrabromide: Acetylene Tetrabromide is a chemical used mainly in mineral separation and as a solvent. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Acetylsalicylic Acid: Acetylsalicylic Acid is also known as aspirin and is primarily used to relieve pain, fever and inflammation. Excessive exposure to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Acrylonitrile: Acrylonitrile is a chemical used mainly in the production of acrylic and modacrylic fibers but also in the production of certain plastics, nylon dyes, drugs and pesticides. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Amitraz: Amitraz is a chemical used mainly as a topical parasitic preventative in livestock and fruit trees. It is also used as an insect repellant and a prevention of mite infestation. The chemical is readily absorbed through the skin. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Ammonium Bifluoride: Ammonium Bifluoride is a chemical used wheel cleaners, herbicides and in the manufacture of magnesium. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Ammonium Chloride: Ammonium Chloride is a chemical used as a medical agent for conditions such as metabolic acidosis, in deodorizer cleaners and also used in industry in fertilizers, electroplating, galvanizing, soldering and in deodorizer cleaners. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Benzene: Benzene is a chemical used mainly in gasoline fuel and as an industrial solvent. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Benzidine: Benzidine is a chemical used mainly in the production of azo dyes for such products as leather, paper and textiles. The chemical is readily absorbed through the skin. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Bromide: Bromide is a chemical used for many applications - flame retardant, industrial uses, pesticides, sanitary products, fumigants, medicines, dyes, photographic solutions and water purification. Bromides act as central nervous system depressants and the ingestion of excessive quantities can cause serious symptoms. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Captafol: Captafol is a chemical used mainly as a fungicide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Chlorate salts: Chlorate salt is a chemical used mainly in herbicides and in the manufacture of matches and explosives. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Chlorine Dioxide: Chlorine dioxide is a chemical used mainly in water treatment and disinfectant for various processing operations. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Chloromethane: Chloromethane is a chemical used mainly in the production of silicones as well as agricultural chemicals, butyl rubber and other products. Ingestion and other exposures to the chemical can cause various symptoms. The chemical is readily absorbed through the skin. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Diethylene Glycol: Diethylene Glycol is a chemical used mainly in coolants, manufacture of plastic products and resins as well as other uses. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Dinitrophenol: Dinitrophenol is a chemical that has various applications: herbicide, pesticide, fungicide, acaricide, manufacture of dyes and wood preservative. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Glufosinate: Glufosinate is a chemical used mainly in herbicides. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Glycol Ether: Glycol Ether is a chemical used mainly in nail polish removers, products to treat leather, anti-icing agents and as an industrial solvent. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Glyphosate: Glyphosate is a chemical used mainly in herbicides. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Imazapyr: Imazapyr is a chemical used mainly in herbicides. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Isopropyl Alcohol: Isopropyl Alcohol is a chemical used mainly as a rubbing alcohol and also in perfumes, paint thinners, disinfectants, cleaners and fuels. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Lewisite: Lewisite is a very poisonous gas which has the potential to be used in chemical warfare due to its deadly effects. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Lysergic Acid Diethylamide: Lysergic Acid Diethylamide is a hallucinogenic drug which is often misused. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Monosodium Methanarsenate: Monosodium Methanarsenate is a chemical used mainly as a herbicide or pesticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Naphthalene: Naphthalene is a chemical used mainly as a moth repellant, toilet deodorizer and the manufacture of other chemicals. The chemical may be absorbed through the skin. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Nickel Carbonyl: Nickel Carbonyl is a chemical used mainly in petroleum and rubber production and in electroplating. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Nitrotoluene: Nitrotoluene is a chemical used mainly in industrial applications for the production of things such as agricultural chemicals, explosives, rubber chemicals, sulfur dyes and azo dyes. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Nitrous Oxide: Nitrous Oxide is a chemical used mainly as rocket fuel, foaming agent and as an anesthetic. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Para-Dichlorobenzene: Para-Dichlorobenzene is a chemical used mainly as a pesticide, mold and mildew preventer, moth repellent and toilet deodorant. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Phosphine: Phosphine is a chemical used mainly in pesticides and rodenticides. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Polychlorinated Dibenzofurans: Polychlorinated Dibenzofurans are a group of chemicals that are usually formed as a byproduct of various industrial processes. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Polyethylene Glycol -- Low Molecular Weight: Low molecular weight polyethylene glycol is a chemical used mainly in hair products, cosmetics, topical medications and in Lava lamps. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Pyrimidifen: Pyrimidifen is a chemical used mainly as an insecticide and acaricide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Sodium Oleate: Sodium Oleate is a chemical used mainly in insecticides. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Strychnine: Strychnine is used as a rodenticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Thallium: Thallium is an element used for such things as electronic devices, selenium rectifiers, gamma radiation detection apparatus, transmission equipment and infrared radiation detection. It is also used as a catalyst in various manufacturing processes. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Toluene: Toluene is a chemical used mainly in pesticides, degreasers, glues and pain removers. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Tungsten: Tungsten is an element used mainly in light bulb filaments, X-ray tubes, electrodes, superalloys, heating elements and various other high temperature uses. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Uranium: Uranium is an element used mainly in commercial nuclear power plants. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- White Phosphorus: White Phosphorus is a chemical used mainly in fertilizers, water treatment, rodenticides and insecticides (for cockroaches). Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chest blueness: A blue discolouration on the chest
  • Chicken soup poisoning: The consumption of excessive amounts of chicken soup can result in serious symptoms due to very high salt levels in the body. Children and the elderly are more likely to be affected by the high salt levels of chicken soup however the condition is rarely seen. Chicken soup is often promoted as useful for treating colds, asthma or emaciation.
  • Chin blueness: A blue discolouration on the chin
  • Cholera: An acute bacterial disease transmitted through food or water contaminated with human faeces. The intestinal infection is caused by the bacterium Vibrio cholerae.
  • Cholesterol and lipids: Levels of blood or urine cholesterol or lipids as a symptom
  • Cholesterol-related symptoms: diseases which can cause an increase in the total cholesterol and hence lead to cholesterol related complications
  • Choriocarcinoma, infantile: A rare malignant cancer that originates in the placenta. It is an aggressive cancer which generally results in infant death.
  • Christian-Demyer-Franken syndrome: A rare syndrome characterized mainly by mental retardation and skeletal abnormalities.
  • Chromosome 1, 1p36 deletion syndrome: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as heart problems, mental retardation, developmental delay, facial dysmorphism and short stature. The symptoms are variable depending on the exact location of chromosomal deletion.
  • Chromosome 10, Monosomy 10p:
  • Chromosome 10p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable abnormalities.
  • Chromosome 11, Partial Monosomy 11q: A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted.
  • Chromosome 11, deletion 11p: A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Chromosome 12 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 12 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 13, Partial Monosomy 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q deletion: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 14 uniparental disomy syndrome: A rare chromosomal disorder where two homologues are obtained from one parent.
  • Chromosome 15q duplication syndrome: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 15q triplication syndrome: A rare chromosomal disorder where there are three copies of a part of the long arm of chromosome 15 resulting in various anomalies.
  • Chromosome 15q, deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 15.
  • Chromosome 15q, trisomy: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 2 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 2 instead of the normal two.
  • Chromosome 22 trisomy mosaic: A rare chromosomal disorder where three copies of chromosome 22 are present in some of the body's cells instead of the normal two. Severity of symptoms is determined by how many cells have the extra chromosomal material.
  • Chromosome 22q deletion: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 22 is missing. The symptoms or severity may vary somewhat between patients.
  • Chromosome 22q deletion syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities.
  • Chromosome 22q11.2 deletion syndrome: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
  • Chromosome 3, trisomy 3p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 3 is duplicated so there is three copies of it rather than the normal two.
  • Chromosome 6, trisomy 6q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 6q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 8, monosomy 8q: A rare chromosomal disorder involving deletion of the long arm (q) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Chromosome 8, mosaic trisomy: A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
  • Chromosome 8p deletion syndrome: A rare chromosomal disorder involving deletion of the short arm (p) of chromosome 8 resulting in various abnormalities.
  • Chronic Chemical poisoning -- Varnish makers' and painters' Naptha: Varnish makers' and painters' Naptha is an ingredient used in certain pesticides. Exposure to the chemical can cause a range of symptoms depending on the level and route of exposure. Exposure can occur through inhalation, ingestion, the skin or eyes. Acute exposure involves a exposure over a short period of time whereas chronic exposure occurs over a longer period of time.
  • Chronic Granulomatous Disease: A very rare inherited blood disorder where certain cells involved with immunity (phagocytes) are unable to destroy bacteria and hence the patient suffers repeated bacterial infections.
  • Chronic Lymphocytic Leukemia, Susceptibility to: A cancer of the blood and bone marrow where too many abnormal lymphocytes (white blood cells) are produced which eventually crowds out healthy blood cells in the body. Researchers have discovered a link between a number of genetic defects and increased susceptibility to chronic lymphocytic leukemia.
  • Chronic Lymphocytic Leukemia, Susceptibility to, 1: A cancer of the blood and bone marrow where too many abnormal lymphocytes (white blood cells) are produced which eventually crowds out healthy blood cells in the body. Researchers have discovered a link between a number of genetic defects and increased susceptibility to chronic lymphocytic leukemia. Type 1 is linked to a defect on chromosome 11q13.3
  • Chronic Lymphocytic Leukemia, Susceptibility to, 2: A cancer of the blood and bone marrow where too many abnormal lymphocytes (white blood cells) are produced which eventually crowds out healthy blood cells in the body. Researchers have discovered a link between a number of genetic defects and increased susceptibility to chronic lymphocytic leukemia. Type 2 is linked to a defect on chromosome 13q14.
  • Chronic Lymphocytic Leukemia, Susceptibility to, 3: A cancer of the blood and bone marrow where too many abnormal lymphocytes (white blood cells) are produced which eventually crowds out healthy blood cells in the body. Researchers have discovered a link between a number of genetic defects and increased susceptibility to chronic lymphocytic leukemia. Type 3 is linked to a defect on chromosome 9q34.1.
  • Chronic Lymphocytic Leukemia, Susceptibility to, 4: A cancer of the blood and bone marrow where too many abnormal lymphocytes (white blood cells) are produced which eventually crowds out healthy blood cells in the body. Researchers have discovered a link between a number of genetic defects and increased susceptibility to chronic lymphocytic leukemia. Type 4 is linked to a defect on chromosome 6p25.
  • Chronic Lymphocytic Leukemia, Susceptibility to, 5: A cancer of the blood and bone marrow where too many abnormal lymphocytes (white blood cells) are produced which eventually crowds out healthy blood cells in the body. Researchers have discovered a link between a number of genetic defects and increased susceptibility to chronic lymphocytic leukemia. Type 5 is linked to a defect on chromosome 11q24.1.
  • Chronic Myeloproliferative Disease, Unclassified: A form of blood disorder characterized by the abnormal proliferation of myeloid precursors in the bone marrow. This category refers to cases of myeloproliferative disease which don't fit into any of the other specific type of myelproliferative diseases.
  • Chronic Myeloproliferative Disorders: A group of blood cancers where excessive numbers of blood cells are made by overactive or cancerous bone marrow. The number of excess blood cells tends to grow slowly. Examples of such disorders includes chronic myelogenous leukemia, polycythemia vera and essential thrombocythemia. The symptoms are determined by which particular blood cancer is involved.
  • Chronic Neutrophilic Leukemia: A rare form of leukemia characterized by excessive levels of mature neutrophils.
  • Chronic adult T-Cell leukemia: A form of blood cancer affecting the T-cells which make up the body's immune system. The disease is caused by the HTLV-1 virus (human T-cell leukemia virus) which causes the proliferation of abnormal T-cells. The virus can be transmitted sexually and may lay dormant for decades. There are four subtypes: acute, chronic, lymphoma and smoldering. The acute and lymphoma subtypes have the poorest prognosis. The acute form tends to progress relatively slowly and generally responds better to treatment than the other subtypes.
  • Chronic cholesterol-related symptoms: diseases which can cause an increase in the total cholesterol and hence lead to cholesterol related complications
  • Chronic idiopathic thrombocytopenia:
  • Chronic kidney failure: Gradual failure of the kidneys over a period of time
  • Chronic leukemia: Leukemia in which the cell line is well differentiated, usually B lymphocytes.
  • Chronic lymphocytic leukemia: A cancer of the blood and bone marrow where too many abnormal lymphocytes (white blood cells) are produced which eventually crowds out healthy blood cells in the body.
  • Chronic myelomonocytic leukemia: A rare form of malignant bone marrow cancer involving the proliferation of immature precursors of certain blood cells - myelocytes and monocytes. The proliferation is slower than in acute forms of the disease.
  • Chronic pyelonephritis: chronic pyelonephritis is persistent kidney inflammation that can scar the kidneys and may lead to chronic renal failure
  • Chronic renal insufficiency: Chronic lack of function of the renal system. Kidneys.
  • Chronic thrombocytopenic purpura:
  • Chronic triglyceride-related symptoms: diseases which can cause a chronic increase in the triglyceride level and hence lead to cholesterol related complications
  • Chuifong tokuwan-induced lead poisoning: Chuifong tokuwan is a folk remedy used mainly by Asian people to arthritis and other pain. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Churg-Strauss Syndrome: A rare allergy related disease involving clumping of excess eosinophils which cause inflammation of smaller arteries and veins (granulomatosis). This has a negative effect on the circulatory system and the lungs resulting in asthma and organ damage.
  • Circulatory infections:
  • Cirrhosis of liver: diffuse hepatic process characterized by fibrosis and the conversion of normal liver architecture into structurally abnormal nodules
  • Citrullinemia I: A very rare urea cycle disorder where a lack of the enzyme argininosuccinate synthetase prevents ammonia being turned into urea which can then be excreted in the urine. The build up of ammonia in the body can cause harmful effects. The neonatal form of citrullinemia type I is generally more serious than the later onset form which may sometimes be mild enough to produce no symptoms.
  • Citrullinemia I, later-onset: A very rare urea cycle disorder where a lack of the enzyme argininosuccinate synthetase prevents ammonia being turned into urea which can then be excreted in the urine. The build up of ammonia in the body can cause harmful effects. The later-onset form of citrullinemia type I is generally milder than the neonatal form and may sometimes be mild enough to produce no symptoms.
  • Citrullinemia II: A very rare urea cycle disorder involving a deficiency of the transport compound called Citrin. Citrin transports aspartate to where the enzyme argininosuccinic acid synthase can combine it with citrulline to make argininosuccinic acid. The deficiency prevents ammonia being turned into urea which can then be excreted in the urine. The build up of ammonia in the body can cause harmful effects.
  • Classic Distal Renal Tubular Acidosis: A condition which is characterized by the formation of an acidosis due to a problem with the renal distal tubule
  • Classical Hodgkin disease: Hodgkin's disease is a type of cancer characterized by the abnormal proliferation of a type of white blood cell called lymphocyte. Hodgkin's lymphoma is classified into classical types and nodular lymphocyte predominant type. The nodular form tends to be more localized than the classical form. Classical Hodgkin's lymphoma is further subdivided into four subgroups depending on the cell composition of the lymphoma: nodular sclerosing, mixed cellularity, lymphocyte rich and lymphocyte depleted.
  • Cleft lip palate pituitary deficiency: A very rare disorder characterized by a cleft lip and palate as well as deficient pituitary gland activity which affects hormone levels. The clefts and the pituitary abnormality are considered to be midline defects.
  • Clotting symptoms: Symptoms affecting the blood's ability to clot
  • Cluster headache: Also known as alarm headache, more common in young men, presents with unilateral headache, rhinorrhea and lacrimation
  • Coagulation defects: deal with disruption of the body's ability to control blood clotting
  • Cobalt-induced myocardial injury: Exposure to cobalt has the potential to cause damage to the heart muscle. Severe damage can result in chronic heart problems or even death in severe cases. Cobalt exposure is most likely to occur in an occupational setting.
  • Cocaine fetopathy: Cocaine use during pregnancy resulting in various birth defects and other abnormalities.
  • Coenzyme Q cytochrome c reductase deficiency of: A rare genetic defect where an enzyme deficiency (CoQ-Cytochrome C reductase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as cardiomyopathy, fatal infant conditions and Leber's myopathy.
  • Colchicine poisoning: Ingestion of toxic quantities of colchicines. Colchicine is primarily used as a medicinal theapy for conditions such as gout and familial Mediterranean fever, scleroderma, secondary amyloidosis and pericarditis. The chemical is a natural chemical found in a plant called meadow saffron and ingestion of the plant can also result in poisoning. The plant is found in the northern parts of the world.
  • Cold Autoimmune Hemolytic Anemia: Cold autoimmune hemolytic anemia is a condition where the body's immune system triggers the production of antibodies against the body's own red blood cells. The red cells are destroyed at an abnormally rapid rate which leads to anemia. Cold haemolytic anemia is characterized by the fact that the abnormal destruction of red blood cells is more active when the patient is exposed to cold temperatures. The severity of the condition varies depending on the underlying cause. The condition may develop gradually or occur suddenly and cause serious symptoms.
  • Cold agglutination syndrome: A rare disorder where abnormal blood proteins called cold agglutinins cause red blood cells to form clumps and die. The process is triggered by exposure to cold temperatures. A small number of cold agglutinins is normal but larger numbers can cause problems such as anemia.
  • Cold antibody hemolytic anemia: A rare autoimmune condition where the body's defense system attacks and destroys red blood cells. The onset of the condition is triggered by temperatures 30°C or lower.
  • Collagen type III glomerulopathy: A rare progressive form of kidney disease characterized by the abnormal deposits of type III collagen in the kidneys. The severity and rate of progression of the condition is variable.
  • Collagenous celiac disease: Collagenous celiac disease is used to describe progressive celiac disease characterized by the presence of a layer of collagen (scarring) in the intestinal layers. This form of celiac disease usually fails to respond to treatments such as gluten-free diets. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The condition usually fails to respond to treatment and has a poor prognosis.
  • Colon Cancer, Familial: A genetic condition characterized by the development of adenomatous polyps mainly in the colon and rectum. There may be hundreds or thousands of polyps and these polyps have a predisposition for becoming cancerous.
  • Colorectal Cancer, Susceptibility to, 1: Colorectal cancer refers to cancer of the colon (bowel) or cancer of the rectum, depending on the region affected. It is an under-diagnosed condition because it has no early symptoms. Even when symptoms occur, both the symptoms and the diagnostic tests required are considered embarrassing by many, leading to delayed diagnosis. However, early diagnosis is crucial as colon cancer is a leading cause of death. There are various genes which are linked to an increased risk of developing colorectal cancer. Not all patients with the genetic defect will develop colorectal cancer but the presence of additional triggering factors such as alcohol may trigger the development in those genetically susceptible. Type 1 is linked to a defect on chromosome 9.
  • Colorectal Cancer, Susceptibility to, 10: Colorectal cancer refers to cancer of the colon (bowel) or cancer of the rectum, depending on the region affected. It is an under-diagnosed condition because it has no early symptoms. Even when symptoms occur, both the symptoms and the diagnostic tests required are considered embarrassing by many, leading to delayed diagnosis. However, early diagnosis is crucial as colon cancer is a leading cause of death. There are various genes which are linked to an increased risk of developing colorectal cancer. Not all patients with the genetic defect will develop colorectal cancer but the presence of additional triggering factors such as alcohol may trigger the development in those genetically susceptible. Type 10 is linked to a defect on chromosome 19q.
  • Colorectal Cancer, Susceptibility to, 11: Colorectal cancer refers to cancer of the colon (bowel) or cancer of the rectum, depending on the region affected. It is an under-diagnosed condition because it has no early symptoms. Even when symptoms occur, both the symptoms and the diagnostic tests required are considered embarrassing by many, leading to delayed diagnosis. However, early diagnosis is crucial as colon cancer is a leading cause of death. There are various genes which are linked to an increased risk of developing colorectal cancer. Not all patients with the genetic defect will develop colorectal cancer but the presence of additional triggering factors such as alcohol may trigger the development in those genetically susceptible. Type 11 is linked to a defect on chromosome 20p.
  • Colorectal Cancer, Susceptibility to, 2: Colorectal cancer refers to cancer of the colon (bowel) or cancer of the rectum, depending on the region affected. It is an under-diagnosed condition because it has no early symptoms. Even when symptoms occur, both the symptoms and the diagnostic tests required are considered embarrassing by many, leading to delayed diagnosis. However, early diagnosis is crucial as colon cancer is a leading cause of death. There are various genes which are linked to an increased risk of developing colorectal cancer. Not all patients with the genetic defect will develop colorectal cancer but the presence of additional triggering factors such as alcohol may trigger the development in those genetically susceptible. Type 2 is linked to a defect on chromosome 8q24.
  • Colorectal Cancer, Susceptibility to, 3: Colorectal cancer refers to cancer of the colon (bowel) or cancer of the rectum, depending on the region affected. It is an under-diagnosed condition because it has no early symptoms. Even when symptoms occur, both the symptoms and the diagnostic tests required are considered embarrassing by many, leading to delayed diagnosis. However, early diagnosis is crucial as colon cancer is a leading cause of death. There are various genes which are linked to an increased risk of developing colorectal cancer. Not all patients with the genetic defect will develop colorectal cancer but the presence of additional triggering factors such as alcohol may trigger the development in those genetically susceptible. Type 3 is linked to a defect on chromosome 16.
  • Colorectal Cancer, Susceptibility to, 4: Colorectal cancer refers to cancer of the colon (bowel) or cancer of the rectum, depending on the region affected. It is an under-diagnosed condition because it has no early symptoms. Even when symptoms occur, both the symptoms and the diagnostic tests required are considered embarrassing by many, leading to delayed diagnosis. However, early diagnosis is crucial as colon cancer is a leading cause of death. There are various genes which are linked to an increased risk of developing colorectal cancer. Not all patients with the genetic defect will develop colorectal cancer but the presence of additional triggering factors such as alcohol may trigger the development in those genetically susceptible. Type 4 is linked to a defect on chromosome 15.
  • Colorectal Cancer, Susceptibility to, 5: Colorectal cancer refers to cancer of the colon (bowel) or cancer of the rectum, depending on the region affected. It is an under-diagnosed condition because it has no early symptoms. Even when symptoms occur, both the symptoms and the diagnostic tests required are considered embarrassing by many, leading to delayed diagnosis. However, early diagnosis is crucial as colon cancer is a leading cause of death. There are various genes which are linked to an increased risk of developing colorectal cancer. Not all patients with the genetic defect will develop colorectal cancer but the presence of additional triggering factors such as alcohol may trigger the development in those genetically susceptible. Type 5 is linked to a defect on chromosome 10p14.
  • Colorectal Cancer, Susceptibility to, 6: Colorectal cancer refers to cancer of the colon (bowel) or cancer of the rectum, depending on the region affected. It is an under-diagnosed condition because it has no early symptoms. Even when symptoms occur, both the symptoms and the diagnostic tests required are considered embarrassing by many, leading to delayed diagnosis. However, early diagnosis is crucial as colon cancer is a leading cause of death. There are various genes which are linked to an increased risk of developing colorectal cancer. Not all patients with the genetic defect will develop colorectal cancer but the presence of additional triggering factors such as alcohol may trigger the development in those genetically susceptible. Type 6 is linked to a defect on chromosome 8q23.
  • Colorectal Cancer, Susceptibility to, 7: Colorectal cancer refers to cancer of the colon (bowel) or cancer of the rectum, depending on the region affected. It is an under-diagnosed condition because it has no early symptoms. Even when symptoms occur, both the symptoms and the diagnostic tests required are considered embarrassing by many, leading to delayed diagnosis. However, early diagnosis is crucial as colon cancer is a leading cause of death. There are various genes which are linked to an increased risk of developing colorectal cancer. Not all patients with the genetic defect will develop colorectal cancer but the presence of additional triggering factors such as alcohol may trigger the development in those genetically susceptible. Type 7 is linked to a defect on chromosome 11.
  • Colorectal Cancer, Susceptibility to, 8: Colorectal cancer refers to cancer of the colon (bowel) or cancer of the rectum, depending on the region affected. It is an under-diagnosed condition because it has no early symptoms. Even when symptoms occur, both the symptoms and the diagnostic tests required are considered embarrassing by many, leading to delayed diagnosis. However, early diagnosis is crucial as colon cancer is a leading cause of death. There are various genes which are linked to an increased risk of developing colorectal cancer. Not all patients with the genetic defect will develop colorectal cancer but the presence of additional triggering factors such as alcohol may trigger the development in those genetically susceptible. Type 8 is linked to a defect on chromosome 14q.
  • Colorectal Cancer, Susceptibility to, 9: Colorectal cancer refers to cancer of the colon (bowel) or cancer of the rectum, depending on the region affected. It is an under-diagnosed condition because it has no early symptoms. Even when symptoms occur, both the symptoms and the diagnostic tests required are considered embarrassing by many, leading to delayed diagnosis. However, early diagnosis is crucial as colon cancer is a leading cause of death. There are various genes which are linked to an increased risk of developing colorectal cancer. Not all patients with the genetic defect will develop colorectal cancer but the presence of additional triggering factors such as alcohol may trigger the development in those genetically susceptible. Type 9 is linked to a defect on chromosome 16q.
  • Colorectal adenomatous polyposis, dominant: A genetic condition characterized by the development of adenomatous polyps mainly in the colon and rectum. There may be hundreds or thousands of polyps and these polyps have a predisposition for becoming cancerous. The condition is inherited in an autosomal dominant manner and occurs in a familial pattern. Most patients have at least one parent with the condition.
  • Colorectal adenomatous polyposis, recessive: A genetic condition characterized by the development of adenomatous polyps mainly in the colon and rectum. There may be hundreds or thousands of polyps and these polyps have a predisposition for becoming cancerous.
  • Colorectal cancer: Cancer of the colon (bowel) or rectum.
  • Combined anterior pituitary function testing:
  • Common Variable Immunodeficiency: An immunodeficiency disorder involving low blood gamma globulin levels which results in an increased susceptibility to infections. The condition may be inherited or can be caused by certain drugs (levamisole, hydantoin and carbamazepine).
  • Common ventricle: A congenital heart defect where the wall separating the two heart ventricles is completely missing.
  • Complement breakdown products: An assessment of the amount of complement breakdown products in the blood giving an indication of complement turnover
  • Complement component deficiency: Complement components are a part of the immune defense system involved in destroying and removing invading pathogens such as bacteria. A deficiency of the complement components can affect the ability of the body's immune system to function properly. The disorder which can be partial or complete and may be inherited or acquired. The severity of the symptoms is determined by which complement component (there are at least 30 of them) is deficient and whether the deficiency is partial or complete.
  • Complement receptor deficiency: Complement receptors are a part of the immune defense system and they initiate the process of destroying and removing invading pathogens. A deficiency of complement receptors thus affects the immune system. It may be inherited or be associated with autoimmune disorders such as systemic lupus erythematosus diabetic nephropathy patients on hemodialysis.
  • Congenital Disorders of Glycosylation: Congenital disorders of glycosylation is a group of disorders involving abnormally synthesis of N-linked oligosaccharides. There is a long chain of events involved in the synthesis and defects may occur with any of the compounds or enzymes involved in the process. Progressive impairment and regression of skills often occurs after a period of normal development following birth.
  • Congenital Disorders of Glycosylation Type Ia: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • Congenital Toxoplasmosis: Fetal infection with toxoplasmosis.
  • Congenital adrenal hyperplasia -- sodium-wasting form: A group of disorder that occur when a deficiency of 21-hydroxylase impairs the normal process of making adrenal corticosteroids - a severe deficiency of 21-hydroxylase causing salt-wasting which is potentially fatal.
  • Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency: A rare genetic condition involving deficiency of 17-alpha-hydroxylase which impairs androgen production by the testes and estrogen production by the ovaries. This results in lack of development of secondary sexual characteristics and hypertension as well as other anomalies.
  • Congenital chloride diarrhea: A rare birth disorder where the intestines don't absorb electrolytes properly (especially chloride) which leads to electrolyte imbalance which is potentially fatal if untreated. Symptoms often start while the infant is still inside the womb.
  • Congenital disorder of glycosylation type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • Congenital disorder of glycosylation type 1B: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1B has a phosphomannose isomerase enzyme defect.
  • Congenital disorder of glycosylation type 1H: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Ih is caused by a defect on chromosome 11pter-p15.5 and involves the gene for a particular enzyme (dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase).
  • Congenital hypoparathyroidism, seizures, growth and mental retardation and unusual facies: A rare syndrome characterized mainly by growth and mental retardation, seizures, unusual facial appearance and congenital hypoparathyroidism.
  • Congenital partial lipodystrophy: A rare congenital disorder that involves adipose tissue abnormalities and is characterized by loss of adipose tissue mainly in the trunk and limbs.
  • Congenital short bowel: A rare birth defect where the bowel is abnormally short. A short bowel can impair the body's ability to absorb enough nutrients and hence result in malabsorption.
  • Congenital spherocytic hemolytic anemia: A blood disorder present at birth where the membranes of red blood cells are defective which results in them being spherical rather than doughnut-shaped. These abnormally shaped red blood cells are broken down prematurely by the body which results in anemia. The condition may range from mild to severe.
  • Conor's disease: An infectious disease that is caused by Rickettsia conorii which is transmitted by the brown dog tick (Rhipicephalus sanguineus). The disease occurs predominantly in Mediterranean areas such as India and Africa. The onset of symptoms is usually sudden and the incubation period is usually between 6 and 10 days.
  • Conotruncal heart malformations: A rare group of heart defect involving the outflow tracts. Examples include truncus arteriosus, transposition of great arteries and tetralogy of Fallot. Obviously the symptoms will be determined by which specific defect is involved.
  • Consumption coagulopathy: Consumption coagulopathy, also called disseminated intravascular coagulation (DIC), is a serious bleeding disorder that can occur as a result of a variety of diseases, disorders and conditions, such as sepsis, certain tumors and severe trauma.
  • Continuous bruit: implies a left to right shunt.
  • Copper deficiency, familial benign: A rare inherited copper deficiency. Copper has many functions in the body including heart function, cholesterol metabolism, brain development, immune defenses, blood supply, glucose metabolism and normal bone development.
  • Copperhead snake poisoning: The Copperhead snake is a poisonous snake found mainly in parts of North America. The toxicity of the poison varies among species but some species are extremely poisonous and readily result in death if the patient is not treated.

Conditions listing medical symptoms: Abnormal blood test symptoms:

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Conditions listing medical complications: Abnormal blood test symptoms:

The following list of medical conditions have 'Abnormal blood test symptoms' or similar listed as a medical complication in our database.

 

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