atopic eczema

description: A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema.


atrial fibrillation

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:ThingWithTaxon

description: A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)


pancreatitis

description: Inflammation of the pancreas.


bipolar disorder

description: A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression.


urinary bladder carcinoma

description: A carcinoma that arises from epithelial cells of the urinary bladder


breast carcinoma

description: A carcinoma that arises from epithelial cells of the breast


cancer

description: A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas.


cardiomyopathy

description: A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.


cardiovascular disorder

description: A disease involving the cardiovascular system.


chronic obstructive pulmonary disease

description: A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema.


colorectal adenocarcinoma

description: The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.


congestive heart failure

description: Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.


coronary artery disorder

description: Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC)


Crohn disease

description: A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement.


cutaneous melanoma

description: A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma.


diabetes mellitus

description: A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.


diabetic kidney disease

description: Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis.


diffuse scleroderma

description: A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement.


dilated cardiomyopathy

description: Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure.


epilepsy

description: A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.


esophageal adenocarcinoma

description: A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor.


gastric adenocarcinoma

description: A carcinoma that arises from glandular epithelial cells of the stomach


glaucoma

description: Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor.


hyperplasia

description: An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement.


hypertensive disorder

description: Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more.


hypertrophic cardiomyopathy

description: A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.


immune system disorder

description: A disorder resulting from an abnormality in the immune system.


invasive lobular breast carcinoma

description: An infiltrating lobular adenocarcinoma of the breast. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures.


irritable bowel syndrome

description: Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterized by abdominal pain or discomfort and disordered bowel habit (diarrhea, constipation, or fluctuation between the two).


lung adenocarcinoma

description: A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor.


lymphoma

description: A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.


metabolic disease

description: A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process.


myocardial infarction

description: Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis.


neuroblastoma

description: Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system.


thyroid gland papillary carcinoma

description: A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance.


periodontitis

description: An acute or chronic inflammatory process that affects the tissues that surround and support the teeth.


preeclampsia

description: Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia.


psoriasis

description: An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp.


renal cell carcinoma

description: A carcinoma that arises from glandular epithelial cells of the kidney


respiratory system disorder

description: A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma.


schizophrenia

description: A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.


severe acute respiratory syndrome

description: A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death.


skin disorder

description: Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs.


squamous cell carcinoma

description: A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma.


squamous cell lung carcinoma

description: A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma.


subarachnoid hemorrhage

description: Intracranial hemorrhage into the subarachnoid space.


systemic sclerosis

description: A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension.


ulcerative colitis

description: An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage.


melanoma

description: A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.


HIV infectious disease

description: An infection caused by the human immunodeficiency virus.


Epstein-Barr virus infection

description: An infection that is caused by Epstein-Barr virus.


bacterial infectious disease

description: An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections.


leprosy

description: Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system.


cataract

description: Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)


celiac disease

description: An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet.


cervical carcinoma

description: A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma.


cytomegalovirus infection

description: A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies.


endometriosis

description: The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs.


malaria

description: Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired.


lung carcinoma

description: A carcinoma that arises from epithelial cells of the lung


ovarian carcinoma

description: A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. --2002


sporadic amyotrophic lateral sclerosis

description: Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history.


post-traumatic stress disorder

description: An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term.


type 1 diabetes mellitus

description: A chronic condition characterized by minimal or absent production of insulin by the pancreas.


type 2 diabetes mellitus

description: A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity.


age-related macular degeneration

description: Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.


liver disorder

description: A disease involving the liver.


cirrhosis of liver

description: A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy.


prostate carcinoma

description: A carcinoma that arises from epithelial cells of the prostate gland.


aortic aneurysm

description: A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.


human papilloma virus infection

description: An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth.


actinic keratosis

description: A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants.


osteoarthritis

description: A noninflammatory degenerative joint disease occurring chiefly in older persons, characterized by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity.


Parkinson disease

description: A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression.


cocaine dependence

description: A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance.


exocrine pancreatic carcinoma

description: A carcinoma that arises from epithelial cells of the exocrine pancreas


atopic IgE-mediated allergic disorder

description: A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms.


breast fibrocystic disease

description: Fibrosis associated with cyst formation in the breast parenchyma.


name: bacterial infectious disease with sepsis

description: An infectious disease caused by bacteria causing sepsis.


hepatitis C virus infection

description: A viral infection caused by the hepatitis C virus.


non-small cell lung carcinoma

description: A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy.


kidney disorder

description: A disease involving the kidney.


peripheral neuropathy

description: A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.


pneumonia

description: An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness.


heart failure

description: Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction.


autism spectrum disorder

description: A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.


Asperger syndrome

description: A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism.


autism

description: Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.


inflammatory bowel disease

description: A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type.


diabetic retinopathy

description: A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness.


carotid artery disorder

description: A disease involving the carotid artery segment.


allergic disease

description: An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures.


dental caries

description: The decay of a tooth, in which it becomes softened, discolored, and/or porous.


migraine disorder

description: A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity.


pulmonary embolism

description: The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung.


prostatitis

description: An infectious or non-infectious inflammatory process affecting the prostate gland.


cutaneous lupus erythematosus

description: An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease.


retinal disorder

description: Any disease or disorder of the retina.


brain aneurysm

description: A congenital or acquired aneurysm within the cranium.


peripheral vascular disease

description: Any disorder affecting blood flow through the veins or arteries outside of the heart.


sleep apnea syndrome

description: A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep.


osteoporosis

description: A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss).


chronic kidney disease

description: Impairment of the renal function secondary to chronic kidney damage persisting for three or more months.


multiple sclerosis

description: A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers.


name: attention deficit hyperactivity disorder, inattentive type

description: A mental disorder characterized by inattention, easy distraction, careless mistakes and avoidance of tasks that require sustained mental focus. These behaviors can lead to maladaptive consequences in the affected individual's life.


drug dependence

description: Drug dependence - replaced the term "drug addiction" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug.


ankylosing spondylitis

description: An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine.


atherosclerosis

description: Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen.


necrotizing enterocolitis

description: Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death.


Fuchs' endothelial dystrophy

description: Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.


sunburn

description: An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering.


eye disorder

description: A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma.


myopathy

description: A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness.


open-angle glaucoma

description: Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage.


androgenetic alopecia

description: Absence of hair in the anterior midline and/or parietal areas.


alopecia areata

description: Loss of scalp and body hair involving microscopically inflammatory patchy areas.


skin basal cell carcinoma

description: The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas.


IgA glomerulonephritis

description: Inflammation of a specific segment of glomeruli within the kidney.


hepatitis B virus infection

description: A viral infection caused by the hepatitis B virus.


hypospadias

description: Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce.


gallstones

description: Solid crystalline precipitates in the biliary tract, usually formed in the gallbladder, resulting in the condition of cholelithiasis. Gallstones, derived from the bile, consist mainly of calcium, cholesterol, or bilirubin.


hypertriglyceridemia

description: A laboratory test result indicating elevated triglyceride concentration in the blood.


keloid

description: An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively.


otosclerosis

description: Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs.


abdominal aortic aneurysm

description: Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs.


anorexia nervosa

description: A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea.


conduct disorder

description: A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period.


chronic hepatitis C virus infection

description: Chronic form of hepatitis C infection.


coronary restenosis

description: Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction.


coronary vasospasm

description: Sudden coronary artery smooth muscle contraction leading to lumen constriction and decreased blood flow.


Creutzfeldt Jacob disease

description: A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease.


Dengue hemorrhagic fever

description: A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death.


drug-induced liver injury

description: A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment.


eosinophilic esophagitis

description: Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs).


erectile dysfunction

description: Persistent or recurrent inability to achieve or to maintain an erection during sexual activity.


Graves disease

description: Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy, antithyroid drugs, and/or thyroid surgery.


hearing loss disorder

description: A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central.


chronic hepatitis B virus infection

description: Chronic form of hepatitis B infection.


heroin dependence

description: Physical and psychological dependence on the drug heroin.


carcinoid tumor

description: A slow growing neuroendocrine tumor, composed of uniform, round, or polygonal cells having monotonous, centrally located nuclei and small nucleoli, infrequent mitoses, and no necrosis. The tumor may show a variety of patterns, such as solid, trabecular, and acinar. Electron microscopy shows small secretory granules. Immunohistochemical studies reveal NSE, as well as chromogranin immunoreactivity. Malignant histology (cellular pleomorphism, hyperchromatic nuclei, prominent nucleoli, necrosis, and mitoses) can occasionally be seen. Such cases may have an aggressive clinical course. Gastrointestinal tract and lung are common sites of involvement.


mood disorder

description: A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature.


meningococcal infection

description: Infections with bacteria of the species neisseria meningitidis.


bone marrow neoplasm

description: Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow).


nasopharyngeal neoplasm

description: A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma.


membranous glomerulonephritis

description: A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome.


nephrotic syndrome

description: A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction.


neurotic disorder

description: A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears.


osteonecrosis

description: A none disease characterized by death of bone tissue due to a lack of blood supply.


bone Paget disease

description: A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue.


panic disorder

description: An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia.


focal epilepsy

description: A seizure caused by a localized disorder.


peripheral arterial disease

description: A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest.


primary ovarian failure

description: Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries.


primary biliary cholangitis

description: Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.


restless legs syndrome

description: A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs.


scoliosis

description: A congenital or acquired spinal deformity characterized by lateral curvature of the spine.


gout

description: A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals.


brain infarction

description: Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis.


movement disorder

description: Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement.


thoracic aortic aneurysm

description: An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.


goiter

description: Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing.


upper aerodigestive tract neoplasm

description: Soft tissue tumors or cancer arising from the mucosal surfaces of the lip; oral cavity; pharynx; larynx; and cervical esophagus. Other sites included are the nose and paranasal sinuses; salivary glands; thyroid gland and parathyroid glands; and melanoma and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)


venous thromboembolism

description: Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream.


colonic neoplasm

description: A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms.


lymphoid leukemia

description: A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias.


name: myalgic encephalomeyelitis/chronic fatigue syndrome

description: A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities.


childhood onset asthma

description: Asthma that starts in childhood.


gestational diabetes

description: Carbohydrate intolerance first diagnosed during pregnancy.


duodenal ulcer

description: An ulcer in the duodenal wall.


osteoarthritis, knee

description: Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)


wet macular degeneration

description: A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision.


hypothyroidism

description: Abnormally low levels of thyroid hormone.


podoconiosis

description: A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils.


prion disease

description: A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal.


otitis media

description: Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever.


visceral leishmaniasis

description: A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi.


cutaneous leishmaniasis

description: Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with erythematous macules and papules, and nodules which may eventually ulcerate. The lesions appear in the bite site in the exposed skin areas.


testicular cancer

description: A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma.


eating disorder

description: A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake.


bulimia nervosa

description: A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image.


congenital heart disease

description: A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale.


lung neuroendocrine neoplasm

description: A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma.


aortic valve calcification

description: Calcification of the aortic valve


rhegmatogenous retinal detachment

description: Retinal detachment secondary to retinal tear or break.


hypersomnia

description: A sleep disorder characterized by excessive sleepiness.


occupation-related stress disorder

description: The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope.


hypotensive disorder

description: Blood pressure that is abnormally low.


orthostatic hypotension

description: Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up.


temporomandibular joint disorder

description: Any condition affecting the anatomic and functional characteristics of the temporomandibular joint.


migraine with aura

description: A migraine disorder characterized by episodes that are preceded by focal neurological symptoms.


torsades de pointes

description: A malignant form of polymorphic ventricular tachycardia that is characterized by heart rate between 200 and 250 beats per minute, and qrs complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long qt intervals exceeding 500 milliseconds or bradycardia. Torsades de pointes may be self-limited or may progress to ventricular fibrillation.


contact dermatitis

description: An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen.


contact dermatitis due to nickel

description: A form of allergic contact dermatitis that results from exposure to nickel


chemotherapy-induced alopecia

description: Hair loss as a result of chemotherapy treatment.


colorectal adenoma

description: An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.


psychotic disorder

description: An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities.


tooth agenesis

description: A rare developmental dental anomaly in humans characterized by the absence of six or more teeth.


schizoaffective disorder

description: A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms.


adolescent idiopathic scoliosis

description: A scoliosis with no known cause arising in adolescent.


dyslexia

description: A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension.


Chagas cardiomyopathy

description: A disease of the cardiac muscle developed subsequent to the initial protozoan infection by trypanosoma cruzi. After infection, less than 10% develop acute illness such as myocarditis (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced chagas disease include conduction defects (heart block) and cardiomegaly.


urticaria

description: A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress.


triple-negative breast carcinoma

description: An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2).


oral cavity cancer

description: A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas.


opiate dependence

description: Disorders related or resulting from abuse or mis-use of opioids.


ileocolitis

description: Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon.


perianal Crohn disease

description: An Crohn disease involving a pathogenic inflammatory response in the anal canal.


acute coronary syndrome

description: Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction.


staphylococcus aureus infection

description: An infectious process in which the bacteria Staphylococcus aureus is present.


lupus nephritis

description: Glomerulonephritis in the context of systemic lupus erythematosus.


aortic disorder

description: Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC)


neonatal abstinence syndrome

description: A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors.


colorectal cancer

description: A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma.


cryoglobulinemia

description: Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause.


arthritic joint disease

description: An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain.


epilepsy, idiopathic generalized

description: A chronic condition characterized by recurrent generalized seizures.


esophageal squamous cell carcinoma

description: Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third.


binge eating disorder

description: Recurrent episodes of over-eating.


severe cutaneous adverse reaction

description: A permanent mark left on the skin in the process of wound healing.


laryngeal squamous cell carcinoma

description: A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx.


ovarian mucinous adenocarcinoma

description: An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations.


chronic bronchitis

description: A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath.


herpes zoster

description: A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area.


Kashin-Beck disease

description: Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology.


anxiety disorder

description: A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety.


typhoid fever

description: A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics.


cerebral amyloid angiopathy

description: Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.


vascular brain injury

description: Damage to the blood vessels of the brain


autoimmune thyroid disease

description: Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis.


head and neck cancer

description: A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma.


male breast carcinoma

description: A malignant neoplasm involving the male breast.


amebiasis

description: A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs.


appendicitis

description: Acute inflammation of the vermiform appendix.


Bell's palsy

description: Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur.


cannabis dependence

description: Physical and psychological dependence on the drug cannabis.


cryptococcosis

description: An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004


filarial elephantiasis

description: Parasitic infestation of the human lymphatic system by wuchereria bancrofti or brugia malayi. It is also called lymphatic filariasis.


hand, foot and mouth disease

description: A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks.


hypopharynx cancer

description: A primary or metastatic malignant neoplasm that affects the hypopharynx.


Lassa fever

description: A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss.


mycobacterium avium complex disease

description: An infection that is caused by Mycobacterium avium.


periodic limb movement disorder

description: Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387)


peritonsillar abscess

description: An abscess that develops in the space surrounding one or both palatine tonsils.


REM sleep behavior disorder

description: A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393)


spinal stenosis

description: Narrowing of the spinal canal.


tinea infection

description: A skin infection caused by a fungus.


vesicoureteral reflux

description: Abnormal flow of urine from the urinary bladder back into the ureters.


vestibular neuronitis

description: Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304)


urinary bladder disorder

description: A disease involving the urinary bladder.


chronic rhinosinusitis

description: Chronic form of sinusitis.


cystitis

description: Inflammation of the urinary bladder.


ovarian clear cell adenocarcinoma

description: A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia.


pulmonary tuberculosis

description: A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss.


name: cervical intraepithelial neoplasia grade 2/3

description: A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia.


epithelioid cell uveal melanoma

description: A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes.


nasal cavity polyp

description: A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection.


pituitary gland adenoma

description: A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss.


uveal melanoma

description: A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B.


acute respiratory distress syndrome

description: Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition.


name: estrogen-receptor positive breast cancer

description: A subtype of breast cancer that is estrogen-receptor positive


name: estrogen-receptor negative breast cancer

description: A subtype of breast cancer that is estrogen-receptor negative


acute pancreatitis

description: An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs.


rectal cancer

description: A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma.


hidradenitis suppurativa

description: A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident.


pemphigus

description: Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus


seborrheic dermatitis

description: A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching.


diabetic neuropathy

description: A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction.


osteoarthritis, hip

description: Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion.


osteoarthritis, spine

description: A degenerative joint disease involving the spine. It is characterized by progressive deterioration of the spinal articular cartilage (cartilage, articular), usually with hardening of the subchondral bone and outgrowth of bone spurs (osteophyte).


alcoholic liver cirrhosis

description: A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages.


anterior uveitis

description: Inflammation of the iris and anterior chamber of the eye.


perinatal asphyxia

description: A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process.


chronic atrophic gastritis

description: Atrophic gastritis that is persistent and long-standing.


bacterial meningitis

description: Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection.


cerebral atherosclerosis

description: Atherosclerosis of the cerebral vasculature.


cervix erosion

description: Loss or destruction of the epithelial lining of the uterine cervix.


coronary aneurysm

description: Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease.


coronary stenosis

description: Narrowing of the coronary artery lumen diameter.


coronary thrombosis

description: Coagulation of blood in any of the coronary vessels. The presence of a blood clot (thrombus) often leads to myocardial infarction.


drug-induced dyskinesia

description: Abnormal movements, including hyperkinesis; hypokinesia; tremor; and dystonia, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see antipsychotic agents). (Adams et al., Principles of Neurology, 6th ed, p1199)


dysplasia of cervix

description: Abnormal development of immature squamous epithelial cells of the uterine cervix, a term used to describe premalignant cytological changes in the cervical epithelium. These atypical cells do not penetrate the epithelial basement membrane.


fibromuscular dysplasia

description: A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation.


frozen shoulder

description: A painful inflammatory process leads to a mechanical block in active and passive range of motion (ROM) of the shoulder. Adhesive capsulitis of the shoulder is characterized by functional loss of passive and active shoulder motion. This inflammatory process results in fibroblastic proliferation and extensive scar tissue formation. Fibroblastic proliferation, a late phase of the inflammatory process involved in tissue repair, leads to thickening, fibrosis, and adhesion of the capsule to itself and the humerus.


gastroparesis

description: Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine.


hyperemesis gravidarum

description: Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances.


iritis

description: Inflammation of the iris.


low tension glaucoma

description: A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure.


ocular hypertension

description: Abnormally high intraocular pressure.


pneumococcal meningitis

description: An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)


pyelonephritis

description: An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion.


retinal drusen

description: Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium.


rheumatic heart disease

description: An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction.


shoulder impingement syndrome

description: Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)


description: Metabolic dysfunction-associated steatohepatitis (MASH, formerly known as nonalcoholic steatohepatitis or NASH) is a type of fatty liver disease. It often develops due to a metabolic disorder, such as obesity or diabetes, resulting in a toxic buildup of fat in the liver. It is the most severe form of metabolic dysfunction-associated steatotic liver disease (MASLD, formerly known as nonalcoholic fatty liver disease or NAFLD).


rotator cuff syndrome

description: Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder.


alcohol dependence

description: Physical and psychological dependence on alcohol.


name: diffuse idiopathic skeletal hyperostosis

description: This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms.


obstructive sleep apnea syndrome

description: Cessation of air flow during sleep due to upper airway obstruction.


Machado-Joseph disease

description: Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.


gastroesophageal reflux disease

description: A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa.


Behcet disease

description: A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.


breast cancer

description: A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males.


hepatocellular carcinoma

description: A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation.


carpal tunnel syndrome

description: Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement.


name: childhood epilepsy with centrotemporal spikes

description: A childhood-onset epilepsy syndrom that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit.


Lewy body dementia

description: A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease.


Tourette syndrome

description: A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen.


Hashimoto thyroiditis

description: An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism.


hiatus hernia

description: Herniation of the upper part of the stomach through the diaphragm.


Huntington disease

description: Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.


multiple system atrophy

description: Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.


inclusion body myositis

description: A slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features.


uterine corpus leiomyoma

description: A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


systemic lupus erythematosus

description: An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific.


mastocytosis

description: A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival.


Meniere disease

description: A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops.


tropical spastic paraparesis

description: Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection.


juvenile dermatomyositis

description: Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations.


obsessive-compulsive disorder

description: A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety.


nephrolithiasis

description: The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins.


pemphigus vulgaris

description: Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterized, of which pemphigus vulgaris is the most frequent (75%).


periodontitis, aggressive 1

description: A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people.


stomach polyp

description: A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps).


prostate cancer

description: A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas.


exfoliation syndrome

description: An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma.


Raynaud disease

description: An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease.


retinal detachment

description: An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision.


rheumatoid arthritis

description: A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor.


small cell lung carcinoma

description: Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.


spondylolisthesis

description: A condition in which there is forward displacement of a vertebral bone over the on below it.


polycystic ovary syndrome

description: A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity.


temporal arteritis

description: A large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.


tetralogy of fallot

description: Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.


nicotine dependence

description: Physical and psychological dependence on nicotine.


varicose disease

description: A vascular disease characterized by the presence of enlarged and tortuous veins.


vitiligo

description: Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes.


achalasia

description: A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food.


biliary atresia

description: A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool.


lung cancer

description: A malignant neoplasm involving the lung.


cystic fibrosis

description: Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.


pseudotumor cerebri

description: Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible.


myasthenia gravis

description: Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.


plasma cell myeloma

description: A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)


juvenile myoclonic epilepsy

description: Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).


Sjogren syndrome

description: An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain


testicular germ cell tumor

description: A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor.


head and neck squamous cell carcinoma

description: A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands.


fragile X syndrome

description: A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.


angioedema

description: Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx.


Sertoli cell-only syndrome

description: Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome. Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy. Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children.


Duchenne muscular dystrophy

description: Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.


bladder exstrophy

description: Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.


benign prostatic hyperplasia

description: A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow.


childhood absence epilepsy

description: Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis.


pigment dispersion syndrome

description: Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed.


cerebrovascular disorder

description: A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction.


early-onset non-syndromic cataract

description: Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.


obesity disorder

description: A disorder involving an excessive amount of body fat.


name: ossification of the posterior longitudinal ligament of the spine

description: A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms.


astigmatism

description: Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed)


sickle cell anemia

description: Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.


name: intervertebral disk degenerative disorder

description: Any disease of a degenerative nature that affects the intervertebral disk.


juvenile idiopathic arthritis

description: Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases).


acne

description: An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin.


birdshot chorioretinopathy

description: Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.


pathological gambling

description: A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity.


lymphangioleiomyomatosis

description: A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites.


allergic rhinitis

description: Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life.


name: migraine without aura, susceptibility to, 4

description: An inherited susceptibility or predisposition to developing migraines without aura.


psoriatic arthritis

description: Joint inflammation associated with psoriasis.


name: tubulointerstitial nephritis and uveitis syndrome

description: An autoimmune disorder comprising tubulointerstitial nephritis and uveitis.


endometrial cancer

description: Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity).


name: chronic myelogenous leukemia, BCR-ABL1 positive

description: A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival.


familial sick sinus syndrome

description: Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.


granulomatosis with polyangiitis

description: A small-vessel necrotizing vasculitis characterized by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.