Jaafer/biomedical_question_one_disease_word

question stringlengths 31 57	answer stringlengths 16 844
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 abscess?	Accumulation of purulent material in tissues, organs, or circumscribed spaces, usually associated with signs of infection.
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 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 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 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 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 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 actinomycosis?	Infections with bacteria of the genus ACTINOMYCES.
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 adenocarcinoma?	A malignant epithelial tumor with a glandular organization.
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 adenomyoepithelioma?	A mixed epithelial and myoepithelial neoplasm usually encountered within the breast. It is a multinodular lesion presenting with a bicellular pattern of proliferating epithelial and myoepithelial cells, which are regularly distributed in the glandular structures.
What is the definition of adenomyoma?	A benign neoplasm of muscle (usually smooth muscle) with glandular elements. It occurs most frequently in the uterus and uterine ligaments. (Stedman, 25th ed)
What is the definition of adenomyosis?	The extension of endometrial tissue (ENDOMETRIUM) into the MYOMETRIUM. It usually occurs in women in their reproductive years and may result in a diffusely enlarged uterus with ectopic and benign endometrial glands and stroma.
What is the definition of adenosarcoma?	A malignant neoplasm arising simultaneously or consecutively in mesodermal tissue and glandular epithelium of the same part. (Stedman, 25th ed)
What is the definition of adrenoleukodystrophy?	An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).
What is the definition of aerophagy?	Spasmodic swallowing of air.
What is the definition of afibrinogenemia?	A deficiency or absence of FIBRINOGEN in the blood.
What is the definition of agammaglobulinemia?	An immunologic deficiency state characterized by an extremely low level of generally all classes of gamma-globulin in the blood.
What is the definition of ageusia?	Complete or severe loss of the subjective sense of taste, frequently accompanied by OLFACTION DISORDERS.
What is the definition of agnosia?	Loss of the ability to comprehend the meaning or recognize the importance of various forms of stimulation that cannot be attributed to impairment of a primary sensory modality. Tactile agnosia is characterized by an inability to perceive the shape and nature of an object by touch alone, despite unimpaired sensation to light touch, position, and other primary sensory modalities.
What is the definition of agoraphobia?	Obsessive, persistent, intense fear of places or situations from which escape might be difficult or embarrassing.
What is the definition of agranulocytosis?	A decrease in the number of GRANULOCYTES; (BASOPHILS; EOSINOPHILS; and NEUTROPHILS).
What is the definition of agraphia?	Loss or impairment of the ability to write (letters, syllables, words, or phrases) due to an injury to a specific cerebral area or occasionally due to emotional factors. This condition rarely occurs in isolation, and often accompanies APHASIA. (From Adams et al., Principles of Neurology, 6th ed, p485; APA, Thesaurus of Psychological Index Terms, 1994)
What is the definition of ainhum?	Spontaneous autoamputation of the fourth or fifth toe.
What is the definition of albinism?	General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
What is the definition of albuminuria?	The presence of albumin in the urine, an indicator of KIDNEY DISEASES.
What is the definition of alcoholism?	A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic. (Morse & Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4)
What is the definition of alkalosis?	A pathological condition that removes acid or adds base to the body fluids.
What is the definition of alkaptonuria?	An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS.
What is the definition of allesthesia?	A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus.
What is the definition of alopecia?	Absence of hair from areas where it is normally present.
What is the definition of alpha-mannosidosis?	An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.
What is the definition of alpha-thalassemia?	A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted.
What is the definition of alternariosis?	Opportunistic fungal infection by a member of ALTERNARIA genus.
What is the definition of amblyopia?	A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. STRABISMUS and REFRACTIVE ERRORS may cause this condition. Toxic amblyopia is a disorder of the OPTIC NERVE which is associated with ALCOHOLISM, tobacco SMOKING, and other toxins and as an adverse effect of the use of some medications.
What is the definition of amebiasis?	Infection with any of various amebae. It is an asymptomatic carrier state in most individuals, but diseases ranging from chronic, mild diarrhea to fulminant dysentery may occur.
What is the definition of ameloblastoma?	An immature epithelial tumor of the JAW originating from the epithelial rests of Malassez or from other epithelial remnants of the ENAMEL from the developmental period. It is a slowly growing tumor, usually benign, but displays a marked propensity for invasive growth.
What is the definition of amenorrhea?	Absence of menstruation.
What is the definition of amnesia?	Pathologic partial or complete loss of the ability to recall past experiences (AMNESIA, RETROGRADE) or to form new memories (AMNESIA, ANTEROGRADE). This condition may be of organic or psychologic origin. Organic forms of amnesia are usually associated with dysfunction of the DIENCEPHALON or HIPPOCAMPUS. (From Adams et al., Principles of Neurology, 6th ed, pp426-7)
What is the definition of amyloidosis?	A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits.
What is the definition of anaphylaxis?	An acute hypersensitivity reaction due to exposure to a previously encountered ANTIGEN. The reaction may include rapidly progressing URTICARIA, respiratory distress, vascular collapse, systemic SHOCK, and death.
What is the definition of anaplasia?	Loss of structural differentiation and useful function of neoplastic cells.
What is the definition of anaplasmosis?	A disease usually in cattle caused by parasitization of the red blood cells by bacteria of the genus ANAPLASMA.
What is the definition of ancylostomiasis?	Infection of humans or animals with hookworms of the genus ANCYLOSTOMA. Characteristics include anemia, dyspepsia, eosinophilia, and abdominal swelling.
What is the definition of anemia?	A reduction in the number of circulating ERYTHROCYTES or in the quantity of HEMOGLOBIN.
What is the definition of anencephaly?	A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associated with folate deficiency. Affected infants are only capable of primitive (brain stem) reflexes and usually do not survive for more than two weeks. (From Menkes, Textbook of Child Neurology, 5th ed, p247)
What is the definition of anetoderma?	Benign DERMATOSIS caused by a loss of dermal ELASTIC TISSUE resulting in localized sac-like areas of flaccid skin. It can be either primary (idiopathic) or secondary to other skin conditions, PENICILLAMINE use, or premature birth.
What is the definition of aneuploidy?	The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
What is the definition of aneurysm?	Pathological outpouching or sac-like dilatation in the wall of any blood vessel (ARTERIES or VEINS) or the heart (HEART ANEURYSM). It indicates a thin and weakened area in the wall which may later rupture. Aneurysms are classified by location, etiology, or other characteristics.
What is the definition of angiodysplasia?	Acquired degenerative dilation or expansion (ectasia) of normal BLOOD VESSELS, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the GASTROINTESTINAL TRACT leading to GASTROINTESTINAL HEMORRHAGE and ANEMIA.
What is the definition of angioedema?	Swelling involving the deep DERMIS, subcutaneous, or submucosal tissues, representing localized EDEMA. Angioedema often occurs in the face, lips, tongue, and larynx.
What is the definition of angiofibroma?	A benign neoplasm of fibrous tissue in which there are numerous small and large, frequently dilated, vascular channels. (Stedman, 25th ed)
What is the definition of angiokeratoma?	A vascular, horny neoplasm of the skin characterized by TELANGIECTASIS and secondary epithelial changes including acanthosis and hyperkeratosis.
What is the definition of angiolipoma?	A benign neoplasm composed of a mixture of adipose tissue and blood vessels. (Dorland, 27th ed)
What is the definition of angiomatosis?	A condition with multiple tumor-like lesions caused either by congenital or developmental malformations of BLOOD VESSELS, or reactive vascular proliferations, such as in bacillary angiomatosis. Angiomatosis is considered non-neoplastic.
What is the definition of angiomyolipoma?	A benign tumor containing vascular, adipose, and muscle elements. It occurs most often in the kidney with smooth muscle elements (angiolipoleiomyoma) in association with tuberous sclerosis. (Dorland, 27th ed)
What is the definition of angiomyoma?	A benign tumor consisting of vascular and smooth muscle elements.
What is the definition of anhedonia?	Inability to experience pleasure due to impairment or dysfunction of normal psychological and neurobiological mechanisms. It is a symptom of many PSYCHOTIC DISORDERS (e.g., DEPRESSIVE DISORDER, MAJOR; and SCHIZOPHRENIA).
What is the definition of aniridia?	A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of the optic cup to grow. Aniridia also occurs in a hereditary form, usually autosomal dominant.
What is the definition of anisakiasis?	Infection with roundworms of the genus ANISAKIS. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute NAUSEA; VOMITING; or penetrate into the wall of the DIGESTIVE TRACT where they give rise to EOSINOPHILIC GRANULOMA in the STOMACH; INTESTINES; or the OMENTUM.
What is the definition of aniseikonia?	A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other.
What is the definition of anisocoria?	Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (IRIS DISEASES) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease.
What is the definition of anisometropia?	A condition of an inequality of refractive power of the two eyes.
What is the definition of ankyloglossia?	A severe congenital restriction of TONGUE movement, resulting from fusion or adherence of the tongue to the floor of the mouth. In partial ankyloglossia (tongue-tie) the LINGUAL FRENUM is abnormally short, or is attached too close to the tip of the tongue. OMIM: 106280
What is the definition of ankylosis?	Fixation and immobility of a joint.
What is the definition of anodontia?	Congenital absence of the teeth. It may involve all (total anodontia) or only some of the teeth (partial anodontia, hypodontia), or six or more of the teeth (oligodontia) and both the deciduous and the permanent dentition, or only teeth of the permanent dentition.
What is the definition of anomia?	A language dysfunction characterized by the inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name. This condition is associated with lesions of the dominant hemisphere involving the language areas, in particular the TEMPORAL LOBE. (From Adams et al., Principles of Neurology, 6th ed, p484)
What is the definition of anophthalmos?	Congenital absence of the eye or eyes.
What is the definition of anorexia?	The lack or loss of APPETITE accompanied by an aversion to food and the inability to eat. It is the defining characteristic of the disorder ANOREXIA NERVOSA.
What is the definition of anosmia?	Complete or severe loss of the subjective sense of smell. Loss of smell may be caused by many factors such as a cold, allergy, OLFACTORY NERVE DISEASES, viral RESPIRATORY TRACT INFECTIONS (e.g., COVID-19), aging and various neurological disorders (e.g., ALZHEIMER DISEASE).
What is the definition of anovulation?	Suspension or cessation of OVULATION in animals or humans with follicle-containing ovaries (OVARIAN FOLLICLE). Depending on the etiology, OVULATION may be induced with appropriate therapy.
What is the definition of anthracosilicosis?	A form of pneumoconiosis caused by inhalation of dust that contains both CARBON and crystalline SILICON DIOXIDE. These foreign matters induce fibrous nodule formation in the lung.
What is the definition of anthracosis?	A diffuse parenchymal lung disease caused by accumulation of inhaled CARBON or coal dust. The disease can progress from asymptomatic anthracosis to massive lung fibrosis. This lung lesion usually occurs in coal MINERS, but can be seen in urban dwellers and tobacco smokers.
What is the definition of anthrax?	An acute infection caused by the spore-forming bacteria BACILLUS ANTHRACIS. It commonly affects hoofed animals such as sheep and goats. Infection in humans often involves the skin (cutaneous anthrax), the lungs (inhalation anthrax), or the gastrointestinal tract. Anthrax is not contagious and can be treated with antibiotics.
What is the definition of anuria?	Absence of urine formation. It is usually associated with complete bilateral ureteral (URETER) obstruction, complete lower urinary tract obstruction, or unilateral ureteral obstruction when a solitary kidney is present.
What is the definition of aortitis?	Inflammation of the wall of the AORTA.
What is the definition of aphakia?	Absence of crystalline lens totally or partially from field of vision, from any cause except after cataract extraction. Aphakia is mainly congenital or as result of LENS DISLOCATION AND SUBLUXATION.
What is the definition of aphasia?	A cognitive disorder marked by an impaired ability to comprehend or express language in its written or spoken form. This condition is caused by diseases which affect the language areas of the dominant hemisphere. Clinical features are used to classify the various subtypes of this condition. General categories include receptive, expressive, and mixed forms of aphasia.
What is the definition of aphonia?	Complete loss of phonation due to organic disease of the larynx or to nonorganic (i.e., psychogenic) causes.
What is the definition of apnea?	A transient absence of spontaneous respiration.
What is the definition of appendicitis?	Acute inflammation of the APPENDIX. Acute appendicitis is classified as simple, gangrenous, or perforated.
What is the definition of apraxias?	A group of cognitive disorders characterized by the inability to perform previously learned skills that cannot be attributed to deficits of motor or sensory function. The two major subtypes of this condition are ideomotor (see APRAXIA, IDEOMOTOR) and ideational apraxia, which refers to loss of the ability to mentally formulate the processes involved with performing an action. For example, dressing apraxia may result from an inability to mentally formulate the act of placing clothes on the body. Apraxias are generally associated with lesions of the dominant PARIETAL LOBE and supramarginal gyrus. (From Adams et al., Principles of Neurology, 6th ed, pp56-7)
What is the definition of apudoma?	A general term collectively applied to tumors associated with the APUD CELLS series, irrespective of their specific identification.
What is the definition of arachnodactyly?	An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes.
What is the definition of arachnoiditis?	Acute or chronic inflammation of the arachnoid membrane of the meninges most often involving the spinal cord or base of the brain. This term generally refers to a persistent inflammatory process characterized by thickening of the ARACHNOID membrane and dural adhesions. Associated conditions include prior surgery, infections, trauma, SUBARACHNOID HEMORRHAGE, and chemical irritation. Clinical features vary with the site of inflammation, but include cranial neuropathies, radiculopathies, and myelopathies. (From Joynt, Clinical Neurology, 1997, Ch48, p25)
What is the definition of argyria?	A permanent ashen-gray discoloration of the skin, conjunctiva, and internal organs resulting from long-continued use of silver salts. (Dorland, 27th ed)
What is the definition of arteriolosclerosis?	Thickening of the walls of small ARTERIES or ARTERIOLES due to cell proliferation or HYALINE deposition.
What is the definition of arteriosclerosis?	Thickening and loss of elasticity of the walls of ARTERIES of all sizes. There are many forms classified by the types of lesions and arteries involved, such as ATHEROSCLEROSIS with fatty lesions in the ARTERIAL INTIMA of medium and large muscular arteries.

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 abscess?

Accumulation of purulent material in tissues, organs, or circumscribed spaces, usually associated with signs of infection.

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 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 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 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 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 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 actinomycosis?

Infections with bacteria of the genus ACTINOMYCES.

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 adenocarcinoma?

A malignant epithelial tumor with a glandular organization.

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 adenomyoepithelioma?

A mixed epithelial and myoepithelial neoplasm usually encountered within the breast. It is a multinodular lesion presenting with a bicellular pattern of proliferating epithelial and myoepithelial cells, which are regularly distributed in the glandular structures.

What is the definition of adenomyoma?

A benign neoplasm of muscle (usually smooth muscle) with glandular elements. It occurs most frequently in the uterus and uterine ligaments. (Stedman, 25th ed)

What is the definition of adenomyosis?

The extension of endometrial tissue (ENDOMETRIUM) into the MYOMETRIUM. It usually occurs in women in their reproductive years and may result in a diffusely enlarged uterus with ectopic and benign endometrial glands and stroma.

What is the definition of adenosarcoma?

A malignant neoplasm arising simultaneously or consecutively in mesodermal tissue and glandular epithelium of the same part. (Stedman, 25th ed)

What is the definition of adrenoleukodystrophy?

An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).

What is the definition of aerophagy?

Spasmodic swallowing of air.

What is the definition of afibrinogenemia?

A deficiency or absence of FIBRINOGEN in the blood.

What is the definition of agammaglobulinemia?

An immunologic deficiency state characterized by an extremely low level of generally all classes of gamma-globulin in the blood.

What is the definition of ageusia?

Complete or severe loss of the subjective sense of taste, frequently accompanied by OLFACTION DISORDERS.

What is the definition of agnosia?

Loss of the ability to comprehend the meaning or recognize the importance of various forms of stimulation that cannot be attributed to impairment of a primary sensory modality. Tactile agnosia is characterized by an inability to perceive the shape and nature of an object by touch alone, despite unimpaired sensation to light touch, position, and other primary sensory modalities.

What is the definition of agoraphobia?

Obsessive, persistent, intense fear of places or situations from which escape might be difficult or embarrassing.

What is the definition of agranulocytosis?

A decrease in the number of GRANULOCYTES; (BASOPHILS; EOSINOPHILS; and NEUTROPHILS).

What is the definition of agraphia?

Loss or impairment of the ability to write (letters, syllables, words, or phrases) due to an injury to a specific cerebral area or occasionally due to emotional factors. This condition rarely occurs in isolation, and often accompanies APHASIA. (From Adams et al., Principles of Neurology, 6th ed, p485; APA, Thesaurus of Psychological Index Terms, 1994)

What is the definition of ainhum?

Spontaneous autoamputation of the fourth or fifth toe.

What is the definition of albinism?

General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.

What is the definition of albuminuria?

The presence of albumin in the urine, an indicator of KIDNEY DISEASES.

What is the definition of alcoholism?

A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic. (Morse & Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4)

What is the definition of alkalosis?

A pathological condition that removes acid or adds base to the body fluids.

What is the definition of alkaptonuria?

An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS.

What is the definition of allesthesia?

A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus.

What is the definition of alopecia?

Absence of hair from areas where it is normally present.

What is the definition of alpha-mannosidosis?

An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.

What is the definition of alpha-thalassemia?

A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted.

What is the definition of alternariosis?

Opportunistic fungal infection by a member of ALTERNARIA genus.

What is the definition of amblyopia?

A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. STRABISMUS and REFRACTIVE ERRORS may cause this condition. Toxic amblyopia is a disorder of the OPTIC NERVE which is associated with ALCOHOLISM, tobacco SMOKING, and other toxins and as an adverse effect of the use of some medications.

What is the definition of amebiasis?

Infection with any of various amebae. It is an asymptomatic carrier state in most individuals, but diseases ranging from chronic, mild diarrhea to fulminant dysentery may occur.

What is the definition of ameloblastoma?

An immature epithelial tumor of the JAW originating from the epithelial rests of Malassez or from other epithelial remnants of the ENAMEL from the developmental period. It is a slowly growing tumor, usually benign, but displays a marked propensity for invasive growth.

What is the definition of amenorrhea?

Absence of menstruation.

What is the definition of amnesia?

Pathologic partial or complete loss of the ability to recall past experiences (AMNESIA, RETROGRADE) or to form new memories (AMNESIA, ANTEROGRADE). This condition may be of organic or psychologic origin. Organic forms of amnesia are usually associated with dysfunction of the DIENCEPHALON or HIPPOCAMPUS. (From Adams et al., Principles of Neurology, 6th ed, pp426-7)

What is the definition of amyloidosis?

A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits.

What is the definition of anaphylaxis?

An acute hypersensitivity reaction due to exposure to a previously encountered ANTIGEN. The reaction may include rapidly progressing URTICARIA, respiratory distress, vascular collapse, systemic SHOCK, and death.

What is the definition of anaplasia?

Loss of structural differentiation and useful function of neoplastic cells.

What is the definition of anaplasmosis?

A disease usually in cattle caused by parasitization of the red blood cells by bacteria of the genus ANAPLASMA.

What is the definition of ancylostomiasis?

Infection of humans or animals with hookworms of the genus ANCYLOSTOMA. Characteristics include anemia, dyspepsia, eosinophilia, and abdominal swelling.

What is the definition of anemia?

A reduction in the number of circulating ERYTHROCYTES or in the quantity of HEMOGLOBIN.

What is the definition of anencephaly?

A malformation of the nervous system caused by failure of the anterior neuropore to close. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed but the eyes are usually normal. This condition may be associated with folate deficiency. Affected infants are only capable of primitive (brain stem) reflexes and usually do not survive for more than two weeks. (From Menkes, Textbook of Child Neurology, 5th ed, p247)

What is the definition of anetoderma?

Benign DERMATOSIS caused by a loss of dermal ELASTIC TISSUE resulting in localized sac-like areas of flaccid skin. It can be either primary (idiopathic) or secondary to other skin conditions, PENICILLAMINE use, or premature birth.

What is the definition of aneuploidy?

The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).

What is the definition of aneurysm?

Pathological outpouching or sac-like dilatation in the wall of any blood vessel (ARTERIES or VEINS) or the heart (HEART ANEURYSM). It indicates a thin and weakened area in the wall which may later rupture. Aneurysms are classified by location, etiology, or other characteristics.

What is the definition of angiodysplasia?

Acquired degenerative dilation or expansion (ectasia) of normal BLOOD VESSELS, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the GASTROINTESTINAL TRACT leading to GASTROINTESTINAL HEMORRHAGE and ANEMIA.

What is the definition of angioedema?

Swelling involving the deep DERMIS, subcutaneous, or submucosal tissues, representing localized EDEMA. Angioedema often occurs in the face, lips, tongue, and larynx.

What is the definition of angiofibroma?

A benign neoplasm of fibrous tissue in which there are numerous small and large, frequently dilated, vascular channels. (Stedman, 25th ed)

What is the definition of angiokeratoma?

A vascular, horny neoplasm of the skin characterized by TELANGIECTASIS and secondary epithelial changes including acanthosis and hyperkeratosis.

What is the definition of angiolipoma?

A benign neoplasm composed of a mixture of adipose tissue and blood vessels. (Dorland, 27th ed)

What is the definition of angiomatosis?

A condition with multiple tumor-like lesions caused either by congenital or developmental malformations of BLOOD VESSELS, or reactive vascular proliferations, such as in bacillary angiomatosis. Angiomatosis is considered non-neoplastic.

What is the definition of angiomyolipoma?

A benign tumor containing vascular, adipose, and muscle elements. It occurs most often in the kidney with smooth muscle elements (angiolipoleiomyoma) in association with tuberous sclerosis. (Dorland, 27th ed)

What is the definition of angiomyoma?

A benign tumor consisting of vascular and smooth muscle elements.

What is the definition of anhedonia?

Inability to experience pleasure due to impairment or dysfunction of normal psychological and neurobiological mechanisms. It is a symptom of many PSYCHOTIC DISORDERS (e.g., DEPRESSIVE DISORDER, MAJOR; and SCHIZOPHRENIA).

What is the definition of aniridia?

A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of the optic cup to grow. Aniridia also occurs in a hereditary form, usually autosomal dominant.

What is the definition of anisakiasis?

Infection with roundworms of the genus ANISAKIS. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute NAUSEA; VOMITING; or penetrate into the wall of the DIGESTIVE TRACT where they give rise to EOSINOPHILIC GRANULOMA in the STOMACH; INTESTINES; or the OMENTUM.

What is the definition of aniseikonia?

A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other.

What is the definition of anisocoria?

Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (IRIS DISEASES) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease.

What is the definition of anisometropia?

A condition of an inequality of refractive power of the two eyes.

What is the definition of ankyloglossia?

A severe congenital restriction of TONGUE movement, resulting from fusion or adherence of the tongue to the floor of the mouth. In partial ankyloglossia (tongue-tie) the LINGUAL FRENUM is abnormally short, or is attached too close to the tip of the tongue. OMIM: 106280

What is the definition of ankylosis?

Fixation and immobility of a joint.

What is the definition of anodontia?

Congenital absence of the teeth. It may involve all (total anodontia) or only some of the teeth (partial anodontia, hypodontia), or six or more of the teeth (oligodontia) and both the deciduous and the permanent dentition, or only teeth of the permanent dentition.

What is the definition of anomia?

A language dysfunction characterized by the inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name. This condition is associated with lesions of the dominant hemisphere involving the language areas, in particular the TEMPORAL LOBE. (From Adams et al., Principles of Neurology, 6th ed, p484)

What is the definition of anophthalmos?

Congenital absence of the eye or eyes.

What is the definition of anorexia?

The lack or loss of APPETITE accompanied by an aversion to food and the inability to eat. It is the defining characteristic of the disorder ANOREXIA NERVOSA.

What is the definition of anosmia?

Complete or severe loss of the subjective sense of smell. Loss of smell may be caused by many factors such as a cold, allergy, OLFACTORY NERVE DISEASES, viral RESPIRATORY TRACT INFECTIONS (e.g., COVID-19), aging and various neurological disorders (e.g., ALZHEIMER DISEASE).

What is the definition of anovulation?

Suspension or cessation of OVULATION in animals or humans with follicle-containing ovaries (OVARIAN FOLLICLE). Depending on the etiology, OVULATION may be induced with appropriate therapy.

What is the definition of anthracosilicosis?

A form of pneumoconiosis caused by inhalation of dust that contains both CARBON and crystalline SILICON DIOXIDE. These foreign matters induce fibrous nodule formation in the lung.

What is the definition of anthracosis?

A diffuse parenchymal lung disease caused by accumulation of inhaled CARBON or coal dust. The disease can progress from asymptomatic anthracosis to massive lung fibrosis. This lung lesion usually occurs in coal MINERS, but can be seen in urban dwellers and tobacco smokers.

What is the definition of anthrax?

An acute infection caused by the spore-forming bacteria BACILLUS ANTHRACIS. It commonly affects hoofed animals such as sheep and goats. Infection in humans often involves the skin (cutaneous anthrax), the lungs (inhalation anthrax), or the gastrointestinal tract. Anthrax is not contagious and can be treated with antibiotics.

What is the definition of anuria?

Absence of urine formation. It is usually associated with complete bilateral ureteral (URETER) obstruction, complete lower urinary tract obstruction, or unilateral ureteral obstruction when a solitary kidney is present.

What is the definition of aortitis?

Inflammation of the wall of the AORTA.

What is the definition of aphakia?

Absence of crystalline lens totally or partially from field of vision, from any cause except after cataract extraction. Aphakia is mainly congenital or as result of LENS DISLOCATION AND SUBLUXATION.

What is the definition of aphasia?

A cognitive disorder marked by an impaired ability to comprehend or express language in its written or spoken form. This condition is caused by diseases which affect the language areas of the dominant hemisphere. Clinical features are used to classify the various subtypes of this condition. General categories include receptive, expressive, and mixed forms of aphasia.

What is the definition of aphonia?

Complete loss of phonation due to organic disease of the larynx or to nonorganic (i.e., psychogenic) causes.

What is the definition of apnea?

A transient absence of spontaneous respiration.

What is the definition of appendicitis?

Acute inflammation of the APPENDIX. Acute appendicitis is classified as simple, gangrenous, or perforated.

What is the definition of apraxias?

A group of cognitive disorders characterized by the inability to perform previously learned skills that cannot be attributed to deficits of motor or sensory function. The two major subtypes of this condition are ideomotor (see APRAXIA, IDEOMOTOR) and ideational apraxia, which refers to loss of the ability to mentally formulate the processes involved with performing an action. For example, dressing apraxia may result from an inability to mentally formulate the act of placing clothes on the body. Apraxias are generally associated with lesions of the dominant PARIETAL LOBE and supramarginal gyrus. (From Adams et al., Principles of Neurology, 6th ed, pp56-7)

What is the definition of apudoma?

A general term collectively applied to tumors associated with the APUD CELLS series, irrespective of their specific identification.

What is the definition of arachnodactyly?

An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes.

What is the definition of arachnoiditis?

Acute or chronic inflammation of the arachnoid membrane of the meninges most often involving the spinal cord or base of the brain. This term generally refers to a persistent inflammatory process characterized by thickening of the ARACHNOID membrane and dural adhesions. Associated conditions include prior surgery, infections, trauma, SUBARACHNOID HEMORRHAGE, and chemical irritation. Clinical features vary with the site of inflammation, but include cranial neuropathies, radiculopathies, and myelopathies. (From Joynt, Clinical Neurology, 1997, Ch48, p25)

What is the definition of argyria?

A permanent ashen-gray discoloration of the skin, conjunctiva, and internal organs resulting from long-continued use of silver salts. (Dorland, 27th ed)

What is the definition of arteriolosclerosis?

Thickening of the walls of small ARTERIES or ARTERIOLES due to cell proliferation or HYALINE deposition.

What is the definition of arteriosclerosis?

Thickening and loss of elasticity of the walls of ARTERIES of all sizes. There are many forms classified by the types of lesions and arteries involved, such as ATHEROSCLEROSIS with fatty lesions in the ARTERIAL INTIMA of medium and large muscular arteries.