question
stringlengths 31
90
| answer
stringlengths 16
951
|
|---|---|
What is the definition of 22q11 deletion syndrome?
|
Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
|
What is the definition of 46, xx disorders of sex development?
|
Congenital conditions in individuals with a female karyotype, in which the development of the gonadal or anatomical sex is atypical.
|
What is the definition of 46, xx testicular disorders of sex development?
|
Congenital conditions in individuals in which male GONADS develop in a genetic female (female to male sex reversal).
|
What is the definition of abdomen, acute?
|
A clinical syndrome with acute abdominal pain that is severe, localized, and rapid in onset. Acute abdomen may be caused by a variety of disorders, injuries, or diseases.
|
What is the definition of abdominal abscess?
|
An abscess located in the abdominal cavity, i.e., the cavity between the diaphragm above and the pelvis below. (From Dorland, 27th ed)
|
What is the definition of abdominal injuries?
|
General or unspecified injuries involving organs in the abdominal cavity.
|
What is the definition of abdominal neoplasms?
|
New abnormal growth of tissue in the ABDOMEN.
|
What is the definition of abdominal pain?
|
Sensation of discomfort, distress, or agony in the abdominal region.
|
What is the definition of abducens nerve diseases?
|
Diseases of the sixth cranial (abducens) nerve or its nucleus in the pons. The nerve may be injured along its course in the pons, intracranially as it travels along the base of the brain, in the cavernous sinus, or at the level of superior orbital fissure or orbit. Dysfunction of the nerve causes lateral rectus muscle weakness, resulting in horizontal diplopia that is maximal when the affected eye is abducted and ESOTROPIA. Common conditions associated with nerve injury include INTRACRANIAL HYPERTENSION; CRANIOCEREBRAL TRAUMA; ISCHEMIA; and INFRATENTORIAL NEOPLASMS.
|
What is the definition of abducens nerve injury?
|
Traumatic injury to the abducens, or sixth, cranial nerve. Injury to this nerve results in lateral rectus muscle weakness or paralysis. The nerve may be damaged by closed or penetrating CRANIOCEREBRAL TRAUMA or by facial trauma involving the orbit.
|
What is the definition of aberrant crypt foci?
|
Clusters of colonic crypts that appear different from the surrounding mucosa when visualized after staining. They are of interest as putative precursors to colorectal adenomas and potential biomarkers for colorectal carcinoma.
|
What is the definition of abetalipoproteinemia?
|
An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL.
|
What is the definition of abnormalities, drug-induced?
|
Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment.
|
What is the definition of abnormalities, multiple?
|
Congenital abnormalities that affect more than one organ or body structure.
|
What is the definition of abnormalities, radiation-induced?
|
Congenital changes in the morphology of organs produced by exposure to ionizing or non-ionizing radiation.
|
What is the definition of abnormalities, severe teratoid?
|
Marked developmental anomalies of a fetus or infant.
|
What is the definition of abnormal karyotype?
|
A variation from the normal set of chromosomes characteristic of a species.
|
What is the definition of abortion, habitual?
|
Three or more consecutive spontaneous abortions.
|
What is the definition of abortion, incomplete?
|
Premature loss of PREGNANCY in which not all the products of CONCEPTION have been expelled.
|
What is the definition of abortion, missed?
|
The retention in the UTERUS of a dead FETUS two months or more after its DEATH.
|
What is the definition of abortion, septic?
|
Any type of abortion, induced or spontaneous, that is associated with infection of the UTERUS and its appendages. It is characterized by FEVER, uterine tenderness, and foul discharge.
|
What is the definition of abortion, spontaneous?
|
Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference.
|
What is the definition of abortion, threatened?
|
UTERINE BLEEDING from a GESTATION of less than 20 weeks without any CERVICAL DILATATION. It is characterized by vaginal bleeding, lower back discomfort, or midline pelvic cramping and a risk factor for MISCARRIAGE.
|
What is the definition of abortion, veterinary?
|
Premature expulsion of the FETUS in animals.
|
What is the definition of abruptio placentae?
|
Premature separation of the normally implanted PLACENTA from the UTERUS. Signs of varying degree of severity include UTERINE BLEEDING, uterine MUSCLE HYPERTONIA, and FETAL DISTRESS or FETAL DEATH.
|
What is the definition of abscess?
|
Accumulation of purulent material in tissues, organs, or circumscribed spaces, usually associated with signs of infection.
|
What is the definition of acalculous cholecystitis?
|
Inflammation of the GALLBLADDER wall in the absence of GALLSTONES.
|
What is the definition of acanthamoeba keratitis?
|
Infection of the cornea by an ameboid protozoan which may cause corneal ulceration leading to blindness.
|
What is the definition of acanthocheilonemiasis?
|
A tropical infectious disease found mainly in Africa that is caused by the filarial parasite ACANTHOCHEILONEMA. Symptoms include skin rashes, abdominal, chest, muscle, and joint pains, neurologic disorders, skin lumps, and elevated levels of white blood cells. The parasite is transmitted through the bite of small flies.
|
What is the definition of acantholysis?
|
Separation of the prickle cells of the stratum spinosum of the epidermis, resulting in atrophy of the prickle cell layer. It is seen in diseases such as pemphigus vulgaris (see PEMPHIGUS) and DARIER DISEASE.
|
What is the definition of acanthoma?
|
A neoplasm composed of squamous or epidermal cells.
|
What is the definition of acanthosis nigricans?
|
A circumscribed melanosis consisting of a brown-pigmented, velvety verrucosity or fine papillomatosis appearing in the axillae and other body folds. It occurs in association with endocrine disorders, underlying malignancy, administration of certain drugs, or as in inherited disorder.
|
What is the definition of acatalasia?
|
A rare autosomal recessive disorder resulting from the absence of CATALASE activity. Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present.
|
What is the definition of accelerated idioventricular rhythm?
|
A type of automatic, not reentrant, ectopic ventricular rhythm with episodes lasting from a few seconds to a minute which usually occurs in patients with acute myocardial infarction or with DIGITALIS toxicity. The ventricular rate is faster than normal but slower than tachycardia, with an upper limit of 100 -120 beats per minute. Suppressive therapy is rarely necessary.
|
What is the definition of accessory atrioventricular bundle?
|
Extra impulse-conducting tissue in the heart that creates abnormal impulse-conducting connections between HEART ATRIA and HEART VENTRICLES.
|
What is the definition of accessory nerve diseases?
|
Diseases of the eleventh cranial (spinal accessory) nerve. This nerve originates from motor neurons in the lower medulla (accessory portion of nerve) and upper spinal cord (spinal portion of nerve). The two components of the nerve join and exit the skull via the jugular foramen, innervating the sternocleidomastoid and trapezius muscles, which become weak or paralyzed if the nerve is injured. The nerve is commonly involved in MOTOR NEURON DISEASE, and may be injured by trauma to the posterior triangle of the neck.
|
What is the definition of accessory nerve injuries?
|
Traumatic injuries to the ACCESSORY NERVE. Damage to the nerve may produce weakness in head rotation and shoulder elevation.
|
What is the definition of accidental injuries?
|
Injuries resulting from events or circumstances that are unforeseen, unplanned, unanticipated, and without premeditation.
|
What is the definition of achlorhydria?
|
A lack of HYDROCHLORIC ACID in GASTRIC JUICE despite stimulation of gastric secretion.
|
What is the definition of achondroplasia?
|
An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
|
What is the definition of acid-base imbalance?
|
Disturbances in the ACID-BASE EQUILIBRIUM of the body.
|
What is the definition of acidosis?
|
A pathologic condition of acid accumulation or depletion of base in the body. The two main types are RESPIRATORY ACIDOSIS and metabolic acidosis, due to metabolic acid build up.
|
What is the definition of acidosis, lactic?
|
Acidosis caused by accumulation of lactic acid more rapidly than it can be metabolized. It may occur spontaneously or in association with diseases such as DIABETES MELLITUS; LEUKEMIA; or LIVER FAILURE.
|
What is the definition of acidosis, renal tubular?
|
A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS.
|
What is the definition of acidosis, respiratory?
|
Respiratory retention of carbon dioxide. It may be chronic or acute.
|
What is the definition of acinetobacter infections?
|
Infections with bacteria of the genus ACINETOBACTER.
|
What is the definition of acne conglobata?
|
Severe and chronic form of acne characterized by large, burrowing abscesses associated with disfigurement.
|
What is the definition of acneiform eruptions?
|
Visible efflorescent lesions of the skin caused by acne or resembling acne. (Dorland, 28th ed, p18, 575)
|
What is the definition of acne keloid?
|
A type of acneiform disorder in which secondary pyogenic infection in and around pilosebaceous structures ends in keloidal scarring. It manifests as persistent folliculitis of the back of the neck associated with occlusion of the follicular orifices. It is most often encountered in black or Asian men.
|
What is the definition of acne vulgaris?
|
A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors.
|
What is the definition of acquired hyperostosis syndrome?
|
Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome.
|
What is the definition of acquired immunodeficiency syndrome?
|
An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993.
|
What is the definition of acrocallosal syndrome?
|
Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. Clinical features include MENTAL RETARDATION; CRANIOFACIAL ABNORMALITIES; digital malformations, and growth retardation.
|
What is the definition of acrocephalosyndactylia?
|
Congenital craniostenosis with syndactyly.
|
What is the definition of acrodermatitis?
|
Inflammation involving the skin of the extremities, especially the hands and feet. Several forms are known, some idiopathic and some hereditary. The infantile form is called Gianotti-Crosti syndrome.
|
What is the definition of acrodynia?
|
A condition seen primarily in childhood, most often resulting from chronic exposure to MERCURY COMPOUNDS which may result in encephalopathy and POLYNEUROPATHY. Clinical features include pain, swelling and pinkish discoloration of the fingers and toes, weakness in the extremities, extreme irritability, HYPERESTHESIA, and alterations in level of consciousness. (From Menkes, Textbook of Child Neurology, 5th ed, p603)
|
What is the definition of acromegaly?
|
A condition caused by prolonged exposure to excessive HUMAN GROWTH HORMONE in adults. It is characterized by bony enlargement of the FACE; lower jaw (PROGNATHISM); hands; FEET; HEAD; and THORAX. The most common etiology is a GROWTH HORMONE-SECRETING PITUITARY ADENOMA. (From Joynt, Clinical Neurology, 1992, Ch36, pp79-80)
|
What is the definition of acro-osteolysis?
|
A condition with congenital and acquired forms causing recurrent ulcers in the fingers and toes. The congenital form exhibits autosomal dominant inheritance; the acquired form is found in workers who handle VINYL CHLORIDE. When acro-osteolysis is accompanied by generalized OSTEOPOROSIS and skull deformations, it is called HAJDU-CHENEY SYNDROME.
|
What is the definition of acrospiroma?
|
A rare cutaneous tumor of apocrine or eccrine SWEAT GLAND origin. It is most commonly found on the extremities and is usually benign. It appears as a solitary nodule or cyst and may be solid or produce a watery discharge. It is related to POROMA except in acrospiroma it does not involve the epidermis. There is no indication that heredity or external agents cause these tumors.
|
What is the definition of acth-secreting pituitary adenoma?
|
A pituitary adenoma which secretes ADRENOCORTICOTROPIN, leading to CUSHING DISEASE.
|
What is the definition of acth syndrome, ectopic?
|
Symptom complex due to ACTH production by non-pituitary neoplasms.
|
What is the definition of actinobacillosis?
|
A disease characterized by suppurative and granulomatous lesions in the respiratory tract, upper alimentary tract, skin, kidneys, joints, and other tissues. Actinobacillus lignieresii infects cattle and sheep while A. equuli infects horses and pigs.
|
What is the definition of actinobacillus infections?
|
Infections with bacteria of the genus ACTINOBACILLUS.
|
What is the definition of actinomycetales infections?
|
Infections with bacteria of the order ACTINOMYCETALES.
|
What is the definition of actinomycosis?
|
Infections with bacteria of the genus ACTINOMYCES.
|
What is the definition of actinomycosis, cervicofacial?
|
A form of ACTINOMYCOSIS characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses.
|
What is the definition of activated protein c resistance?
|
A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance.
|
What is the definition of acute aortic syndrome?
|
A group of aortic diseases presented with acute chest pain. It commonly includes AORTIC DISSECTION; AORTIC INTRAMURAL HEMATOMA; PENETRATING ATHEROSCLEROTIC ULCER and sometimes aortic aneurysms.
|
What is the definition of acute chest syndrome?
|
Respiratory syndrome characterized by the appearance of a new pulmonary infiltrate on chest x-ray, accompanied by symptoms of fever, cough, chest pain, tachypnea, or DYSPNEA, often seen in patients with SICKLE CELL ANEMIA. Multiple factors (e.g., infection, and pulmonary FAT EMBOLISM) may contribute to the development of the syndrome.
|
What is the definition of acute coronary syndrome?
|
An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.
|
What is the definition of acute disease?
|
Disease having a short and relatively severe course.
|
What is the definition of acute febrile encephalopathy?
|
Acute onset of fever accompanied by seizures, cerebral inflammation and a change in mental status (e.g., confusion, disorientation, and coma).
|
What is the definition of acute generalized exanthematous pustulosis?
|
Rare skin eruption characterized by acute formation of pustules filled with NEUTROPHILS, fever, and peripheral blood LEUKOCYTOSIS. Most cases are associated with the use of antibiotics (e.g., BETA-LACTAMS).
|
What is the definition of acute kidney injury?
|
Abrupt reduction in kidney function. Acute kidney injury encompasses the entire spectrum of the syndrome including acute kidney failure; ACUTE KIDNEY TUBULAR NECROSIS; and other less severe conditions.
|
What is the definition of acute lung injury?
|
A condition of lung damage that is characterized by bilateral pulmonary infiltrates (PULMONARY EDEMA) rich in NEUTROPHILS, and in the absence of clinical HEART FAILURE. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological).
|
What is the definition of acute-on-chronic liver failure?
|
Sudden liver failure in the presence of underlying compensated chronic LIVER DISEASE (e.g., LIVER CIRRHOSIS; HEPATITIS; and liver injury and failure) due to a precipitating acute hepatic insult.
|
What is the definition of acute pain?
|
Intensely discomforting, distressful, or agonizing sensation associated with trauma or disease, with well-defined location, character, and timing.
|
What is the definition of acute-phase reaction?
|
An early local inflammatory reaction to insult or injury that consists of fever, an increase in inflammatory humoral factors, and an increased synthesis by hepatocytes of a number of proteins or glycoproteins usually found in the plasma.
|
What is the definition of acute radiation syndrome?
|
A condition caused by a brief whole body exposure to more than one sievert dose equivalent of radiation. Acute radiation syndrome is initially characterized by ANOREXIA; NAUSEA; VOMITING; but can progress to hematological, gastrointestinal, neurological, pulmonary, and other major organ dysfunction.
|
What is the definition of acute retroviral syndrome?
|
Early stage of HIV infection. Symptoms resemble INFLUENZA or INFECTIOUS MONONUCLEOSIS.
|
What is the definition of adamantinoma?
|
A locally aggressive, osteolytic neoplasm of the long bones, probably of epithelial origin and most often involving the TIBIA.
|
What is the definition of adams-stokes syndrome?
|
A condition of fainting spells caused by heart block, often an atrioventricular block, that leads to BRADYCARDIA and drop in CARDIAC OUTPUT. When the cardiac output becomes too low, the patient faints (SYNCOPE). In some cases, the syncope attacks are transient and in others cases repetitive and persistent.
|
What is the definition of addison disease?
|
An adrenal disease characterized by the progressive destruction of the ADRENAL CORTEX, resulting in insufficient production of ALDOSTERONE and HYDROCORTISONE. Clinical symptoms include ANOREXIA; NAUSEA; WEIGHT LOSS; MUSCLE WEAKNESS; and HYPERPIGMENTATION of the SKIN due to increase in circulating levels of ACTH precursor hormone which stimulates MELANOCYTES.
|
What is the definition of adenocarcinoma?
|
A malignant epithelial tumor with a glandular organization.
|
What is the definition of adenocarcinoma, bronchiolo-alveolar?
|
A carcinoma derived from epithelium of terminal bronchioles, in which the neoplastic tissue extends along the alveolar walls and grows in small masses within the alveoli. Involvement may be uniformly diffuse and massive, or nodular, or lobular. The neoplastic cells are cuboidal or columnar and form papillary structures. Mucin may be demonstrated in some of the cells and in the material in the alveoli, which also includes denuded cells. Metastases in regional lymph nodes, and in even more distant sites, are known to occur, but are infrequent. (From Stedman, 25th ed)
|
What is the definition of adenocarcinoma, clear cell?
|
An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)
|
What is the definition of adenocarcinoma, follicular?
|
An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)
|
What is the definition of adenocarcinoma in situ?
|
A lesion with cytological characteristics associated with invasive adenocarcinoma but the tumor cells are confined to the GLANDULAR EPITHELIAL CELLS of origin. Adenocarcinoma in situ of the CERVIX and the LUNG are the most common.
|
What is the definition of adenocarcinoma, mucinous?
|
An adenocarcinoma producing mucin in significant amounts. (From Dorland, 27th ed)
|
What is the definition of adenocarcinoma of lung?
|
A carcinoma originating in the lung and the most common lung cancer type in never-smokers. Malignant cells exhibit distinct features such as glandular epithelial, or tubular morphology. Mutations in KRAS, EGFR, BRAF, and ERBB2 genes are associated with this cancer.
|
What is the definition of adenocarcinoma, papillary?
|
An adenocarcinoma containing finger-like processes of vascular connective tissue covered by neoplastic epithelium, projecting into cysts or the cavity of glands or follicles. It occurs most frequently in the ovary and thyroid gland. (Stedman, 25th ed)
|
What is the definition of adenocarcinoma, scirrhous?
|
An adenocarcinoma with a hard (Greek skirrhos, hard) structure owing to the formation of dense connective tissue in the stroma. (From Dorland, 27th ed)
|
What is the definition of adenocarcinoma, sebaceous?
|
A malignant tumor composed of cells showing differentiation toward sebaceous epithelium. The tumor is solitary, firm, somewhat raised, more or less translucent, and covered with normal or slightly verrucose epidermis. It may be yellow or orange. The face and scalp are the commonest sites. The growth can be slow or rapid but metastasis is uncommon. Surgery cures most of the cases. (From Rook et al., Textbook of Dermatology, 4th ed, pp2403-4)
|
What is the definition of adenofibroma?
|
A benign neoplasm composed of glandular and fibrous tissues, with a relatively large proportion of glands. (Stedman, 25th ed)
|
What is the definition of adenolymphoma?
|
A benign tumor characterized histologically by tall columnar epithelium within a lymphoid tissue stroma. It is usually found in the salivary glands, especially the parotid.
|
What is the definition of adenoma?
|
A benign epithelial tumor with a glandular organization.
|
What is the definition of adenoma, acidophil?
|
A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)
|
What is the definition of adenoma, basophil?
|
A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed)
|
What is the definition of adenoma, bile duct?
|
A benign tumor of the intrahepatic bile ducts.
|
What is the definition of adenoma, chromophobe?
|
A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes.
|
End of preview. Expand
in Data Studio
README.md exists but content is empty.
- Downloads last month
- 6