In this section the terms used in the filters are defined, as well as a breakdown of regions by country. If there are any terms you would like added to this page, please fill out our feedback form.
A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain; including white matter changes, cerebellar atrophy, thin corpus callosum, encephalocele, Chiari malformation.
A structural abnormality of the small intestine.
An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. Includes arterial occlusion, arterial stenosis, and arterial inflammation
Any abnormality of the teeth. Also known as: abnormal dentition, abnormal teeth, dental abnormalities, dental abnormality, dental anomalies, abnormality of the teeth, dental problem, dental problems, tooth abnormalities.
Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake.
Algeria, Angola, Benin, Botswana, Burkina Faso, Burundi, Cameroon, Cape Verde, Central African Republic, Chad, Comoros, Democratic Republic of the Congo, Djibouti, Egypt, Equatorial Guinea, Eritrea, Eswatini, Ethiopia, Gabon, Ghana, Guinea, Guinea-Bissau, Ivory Coast, Kenya, Lesotho, Liberia, Libya, Madagascar, Malawi, Mali, Mauritania, Mauritius, Morocco, Mozambique, Namibia, Niger, Nigeria, Republic of the Congo, Rwanda, Sao Tome and Principe, Senegal, Seychelles, Sierra Leone, Somalia, South Africa, South Sudan, Sudan, Tanzania, The Gambia, Togo, Tunisia, Uganda, Zambia, Zimbabwe
It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea. Also known as: hay fever, hayfever, nasal allergies.
A reduction in erythrocytes volume or hemoglobin concentration.
A bulge or "ballooning" in the wall of an artery. If an aneurysm grows large, it can burst and cause dangerous bleeding or even death.
Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control.
Accumulation of fluid in the abdomen
Afghanistan, Armenia, Azerbaijan, Bangladesh, Bhutan, Brunei Darussalam, Cambodia, China, Georgia, Hong Kong, India, Indonesia, Japan, Kazakhstan, Korea, North, Korea, South, Kyrgyzstan, Laos, Macao, Malaysia, Maldives, Mongolia, Myanmar (ex-Burma), Nepal, Pakistan, Philippines, Singapore, Sri Lanka (ex-Ceilan), Taiwan, Tajikistan, Thailand, Timor Leste (West), Turkmenistan, Uzbekistan, Vietnam
A slender build with long limbs, an angular profile, and prominent muscles or bones; includes asthenic habitus, slender build, thin body habitus, thin build.
Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. Also known as: bronchial asthma, reactive airway disease.
uneven size of body parts
Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
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.
An abnormality of the autonomic nervous system.
Each affected person usually has an affected parent; occurs in every generation
Both parents of an affected person are carriers; not typically seen in every generation
A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.
B
A type of white blood cell that makes antibodies
A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps. Includes imbalance, poor coordination, clumsiness, dizziness, and vertigo,
An abnormality of mental functioning including various affective, behavioral, cognitive, and perceptual abnormalities; includes irritability and self aggression, mood lability.
A type of cell that is found in the pancreatic islets of the pancreas and secretes insulin.
An abnormality of the hematopoietic system; includes lymphopenia, leukopenia, PRCA.
Passage of many stools containing blood.
A partial or complete breakage of the continuity of a bone; includes pathological fracture
An abnormality of the form, structure, or size of the skeletal system.
A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
includes wheezing, cough, gagging, choking, and shortness of breath
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
C
An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).
A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone.
A benign or malignant neoplasm that arises from or metastasizes to the brain.
The presence of a carcinoma of the breast.
A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
Cells that grow in the absence of signals telling them to grow due to a genetic mutation or environmental factors
A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary malformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules).
Any structural anomaly of the heart. Includes prolonged QTc in CTD, arrhythmia, rapid heart rate, cardiac conduction defects; congenital heart defects; arrhythmias.
Cells that originate as embryonic stem cells from the inner cell mass of blastocysts during early embryonic development
A cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. Also known as: congenital cerebellar hypoplasia, hypoplasia of cerebellum, hypoplastic cerebellum, small cerebellum, underdeveloped cerebellum.
Abnormal accumulation of fluid in the brain.
Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.
Loss of previously present mental abilities, generally in adults.
Abnormal cognition with deficits in thinking, reasoning, or remembering.
Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases.
Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli.
Inflammation of the conjunctiva. Also known as pink eye.
Infrequent or difficult evacuation of feces.
Sudden and involuntary contractions of one or more muscles.
Excessive growth of the bones of cranium, i.e., of the skull.
Cranial nerve paralysis; a functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. Includes oculomotor nerve palsy.
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
An escape of the fluid that surrounds the brain and spinal cord. This fluid is called the cerebrospinal fluid (CSF).
D
A variant that has arisen in an individual for the first time and is not inherited from a parent.
A reduced desire to eat.
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior.
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high.
A biomarker that detects or confirms the presence of a disease or condition of interest, or identifies an individual with a subtype of the disease
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
An open sore on the surface of the skin of a finger or toe.
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Difficulty in swallowing.
E
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Abnormally increased size of the liver.
An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).
A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.; includes abnormal narrowing preventing proper flow or passage
Albania, Andorra, Austria, Belarus, Belgium, Bosnia and Herzegovina, Bulgaria, Croatia, Cyprus, Czech Republic or Czechia, Denmark, Estonia, Finland, France, Germany, Greece, Hungary, Iceland, Ireland, Italy, Latvia, Liechtenstein, Lithuania, Luxembourg, Malta, Moldova, Monaco, Montenegro, Netherlands, North Macedonia, Norway, Poland, Portugal, Romania, Russia, San Marino, Serbia, Slovakia, Slovenia, Spain, Sweden, Switzerland, Turkey, Ukraine, United Kingdom, Vatican City
The presence of hyperactive stretch reflexes of the muscles.
Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose.
A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.
F
Facial droop, Paralysis of one side of the face, Unilateral facial muscle paralysis, Unilateral facial muscle weakness, Unilateral facial paralysis, Unilateral facial weakness, Weakness of one side of the face
Undergrowth, Faltering weight, Postnatal failure to thrive, Weight faltering, Poor weight gain
fainting spell; generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Body temperature elevated above the normal range.
A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules.
G
Any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Hard, pebble-like deposits that form within the gallbladder.
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Also known as acid reflux, acid reflux disease, GERD, gastro-esophageal reflux, gastro-oesophageal reflux , gastroesophageal reflux disease, heartburn
includes ulcers, hemorrhages, bowel perforation or infarction, intestinal necrosis, mesenteric ischemia
includes short stature; A deficiency or slowing down of growth pre- and postnatally.
Abnormal development of large mammary glands in males resulting in breast enlargement.
H
includes various forms of migraines; Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
A decreased magnitude of the sensory perception of sound.
Bleeding is the loss of blood. It can be external, or outside the body, like when you get a cut or wound. It can also be internal, or inside the body, like when you have an injury to an internal organ.
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate.
An increased concentration of ammonia in the blood.
An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
Lack of stability of a joint.
The presence of chronic increased pressure in the systemic arterial system.
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
The absence of five or less teeth from the normal series by a failure to develop.
A decreased concentration of glucose in the blood.
Reduction of neurologic reflexes such as the knee-jerk reaction.
Deficiency of thyroid hormone.
Abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
An abnormally low level of blood oxygen. Also known as hypoxia, low blood oxygen level.
I
includes humoral immunodeficiency, ALPS; Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Inflammation or infection of the middle ear.
disorder affecting the lungs causing difficulty breaking; including infections like influenza, pneumonia and tuberculosis, lung cancer, and many other breathing problems
nonspecific bacterial and viral infections
includes tissue inflammation throughout the body, including myocarditis, pleuritis
Inflammation of the large intestine, Inflammatory bowel disease
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices. Also known as: idiopathic non-cirrhotic portal hypertension, incomplete septal cirrhosis , non cirrhotic portal fibrosis, obliterative portal venopathy.
iPSC derived cell line is a cell line that derives from iPS cells (induced pluripotent stem cell).
J
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part.
Joint pain, arthritis
K
including chronic kidney insufficiency, renal artery stenosis, renal infarction, renal amyloidosis; A nonspecific term referring to disease or damage of the kidneys.
L
EBV-transformed lymphoblastoid B-cell lines
Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.
bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension.
includes cirrhosis, hepatic encephalopathy, hepatopulmonary syndrome; An abnormality of the liver.
Collapse of part of a lung associated with absence of inflation (air) of that part.
A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.
includes blister-like vesicles
An immature lymphocyte that has enlarged in response to antigenic stimulation.
M
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit.
A feeling of general discomfort, weakness, or lack of health.
A deficiency in the intake of energy and nutrients.
An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).
Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
Head circumference below 2 standard deviations below the mean for age and gender.
Cyprus, Lebanon, Syria, Iraq, Iran, Israel, Jordan, Saudi Arabia, Kuwait, Qatar, Bahrain, United Arab Emirates, Oman, Yemen
A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy. Also known as early fetal demise and spontaneous abortion.
Can affect both males and females, but only passed on by females because all mitochondria of all children come from the mother; can appear in every generation
A biomarker that can be measured serially to assess the status of a disease or medical condition for evidence of exposure to a medical product or environmental agent, or to detect an effect of a medical product or biological agent
includes body, head-eye movement disorders, chorea, dystonia, and spasticity, motor planning disorder; An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.
A condition in which muscles cannot be moved quickly without accompanying pain or spasm.
Reduced strength of muscles.
pain in a muscle or group of muscles
Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. Also known as: myelodysplastic syndrome, hypoplastic myelodysplasia.
Replacement of bone marrow by fibrous tissue.
An embryonic cell that becomes a cell of muscle fiber.
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
A general term for inflammation of the muscles without respect to the underlying cause.
A transversely striated, synctial muscle cell, formed by the fusion of myoblasts.
N
The presence of developmental dysplasia of the nail. Also known as: atypical nail growth, dysplastic nails, onychodysplasia.
A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.
Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain. Includes myelitis, neuritis, non-infectious meningitis, and encephalitis.
Neuropathic pain is triggered by lesions to the somatosensory nervous system that alter its structure and function so that pain occurs spontaneously and responses to noxious and innocuous stimuli are pathologically amplified.
An abnormally low number of neutrophils in the peripheral blood.
A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture.
Antigua and Barbuda, Bahamas, Barbados, Belize, Canada, Costa Rica, Cuba, Dominica, Dominican Republic, El Salvador, Grenada, Guatemala, Haiti, Honduras, Jamaica, Mexico, Nicaragua, Panama, Saint Kitts and Nevis, Saint Lucia, Saint Vincent and the Grenadines, Trinidad and Tobago, United States
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
Neural progenitor cells
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
O
Behavior that consists of repetitive acts that are characterized by the feeling that one 'has to' perform them while one is aware that these acts are not in line with one's overall goal
Australia, Micronesia, Fiji, Kiribati, Marshall Islands, Nauru, New Zealand, Palau, Papua New Guinea, Samoa, Solomon Islands, Tonga, Tuvalu, Vanuatu
Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.
A thickened white patch on the oral mucosa that cannot be rubbed off. Also known as: oral idiopathic keratosis, oral idiopathic leukoplakia, oral idiopathic white patch, oral leucoplakia, oral leukokeratosis, oral leukoplasia, oral white patch, oral white plaque, leukokeratosis.
includes uvulitis, ulcerations of oral mucosa such as Aphthous ulcers, gum issues; Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.
An artificially grown mass of cells or tissue that resembles an organ
A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
a bone disease that develops when bone mineral density and bone mass decreases, or when the structure and strength of bone changes
P
An unpleasant sensation characterized by physical discomfort and perceived to originate in the abdomen; includes pricking, throbbing, or aching
An unpleasant sensation characterized by physical discomfort localized to the chest; includes pricking, throbbing, or aching sharp, dull, crushing, or burning feeling
Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months
The presence of inflammation in the pancreas
Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
A type of immune cell that makes large amounts of a specific antibody
The presence of an excessive amount of fluid in the pleural cavity.
Excessive thirst manifested by excessive fluid intake.
A reduced ability to heal cutaneous wounds.
Primary human myocytes that form skeletal muscles
A specialized subset of endothelial cells that comprise lymphatic vessels in the tissue and lymph node
A biomarker that identifies the likelihood of a clinical event, disease recurrence, or disease progression in patients with a disease or medical condition of interest
Prolonged or protracted bleeding following an invasive procedure or intervention, such as after surgery or accidents
Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract.
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.
Replacement of normal lung tissues by fibroblasts and collagen.
Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease.
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
R
An insulin-secreting pancreatic beta cell line from rats
Excessively reduced blood flow in response to cold or emotional stress, causing discolouration of the fingers, toes.
Absence or underdevelopment of the kidney.
A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits; includes respiratory failure, respiratory impairment, and respiratory function loss
An abnormality of skin pigmentation. Also known as: reticular pigmentation pattern, reticulate skin pigmentation.
S
A widely spaced gap between the first toe (the great toe) and the second toe.
The presence of an abnormal lateral curvature of the spine.
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain; includes different forms of epilepsy.
A decreased tolerance to sensory stimuli that triggers emotional and/or physical distress.
Sjogren's syndrome, also called Sjogren's disease, is a chronic (long-lasting) autoimmune disease. In Sjogren's syndrome, your immune system attacks the glands that make moisture in the eyes, mouth, and other parts of the body. This causes a dry mouth and dry eyes. You may have dryness in other places that need moisture, such as your nose, throat, and skin. Sjogren's can also affect other parts of the body, including your joints, lungs, kidneys, blood vessels, digestive organs, and nerves.
Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin; includes damage or death to the skin tissue.
including bumps, rash, urticaria, eczema
Sleep disorders are conditions that disturb your normal sleep patterns. There are over 80 different sleep disorders; includes insomnia, sleep apnea, restless leg syndrome (RLS), hypersomnia, obstructive sleep apnea, and others.
Spasticity and weakness of the leg and hip muscles
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes; includes abnormal muscle tone, stiffness.
A degree of language development that is significantly below the norm for a child of a specified age.
A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.
A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.
Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain; including ischemic, hemorrhagic stroke, TIA
Slightly elevated lesions on or in the skin with a diameter of over 5 mm.
Enlargement (swelling) of a lymph node; including the common areas; groin, armpit, neck, under jaw & chin, behind ears, and back of the head.
T
A height above that which is expected according to age and gender norms.
A developmental defect of tooth color.
Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.
During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.
Therapeutic or predictive biomarkers discriminate those who will respond or not respond to therapy; the presence or change in a biomarker that predicts an individual or group of individuals more likely to experience a favorable or unfavorable effect from the exposure to a medical product or environmental agent
body temperature dysregulation
A reduction in the number of circulating thrombocytes; includes low platelet count.
Inflammation of the thyroid gland.
Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation; includes ringing in the ears.
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage; including elevated liver enzymes and abnormal liver enzymes
Synthesizing cells of the alveolar surfactant, which has important properties in maintaining alveolar and airway stability
U
A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection. Includes molluscum contagiosum.
V
Inflammation of blood vessels; includes cutaneous PAN. Synonym Angiitis
A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell when venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.
An abnormal sensation of spinning while the body is actually stationary. Includes dizzy spell, dizziness.
includes nearsightedness, blurred vision, double vision (diplopia), optic nerve atrophy, partial or complete loss of vision, cortical visual impairment, retinal artery occlusion, Amaurosis Fugax, scleritis, uveitis, episcleritis, retinitis pigmentosa, blindness, retinal degeneration, light sensitivity, eye pain, burning, itching, or dry eyes, ptosis, internuclear ophthalmoplegia, strabismus
not getting enough of certain vitamins
a disease that causes loss of pigment in skin, hair and eyes; includes blotchy loss of skin color
throwing up, stomach sickness
W
Abnormally increased body weight; includes increased body weight or weight gain
Reduction of total body weight; includes weight loss or decrease in body weight
X
Females are more frequently affected because all daughters and no sons of an affected man will be affected; can have affected males and females in same generation if the mother is affected
Males are more frequently affected; affected males often present in each generation