Abnormal nervous system electrophysiology

An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.


Muscle weakness

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Reduced strength of muscles.


Myoclonus

Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.


Tremor

An unintentional, oscillating to-and-fro muscle movement about a joint axis.


Joint dislocation

Displacement or malalignment of joints.


Hepatic fibrosis

The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.


Periportal fibrosis

The presence of fibrosis affecting the interlobular stroma of liver.


Decreased liver function

Reduced ability of the liver to perform its functions.


Hepatosplenomegaly

Simultaneous enlargement of the liver and spleen.


Failure to thrive

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.


Growth delay

A deficiency or slowing down of growth pre- and postnatally.


Small for gestational age

Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.


Large for gestational age

The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.


Ascites

Accumulation of fluid in the peritoneal cavity.


Vocal cord paralysis

A loss of the ability to move the vocal folds.


Hoarse voice

Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.


Dysphonia

Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.


Premature birth

The birth of a baby of less than 37 weeks of gestational age.


Breech presentation

A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.


Cardiomegaly

Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.


Tachycardia

A rapid heartrate that exceeds the range of the normal resting heartrate for age.


aortic valve insufficiency

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

Dysfunction of the aortic valve characterized by incomplete valve closure.


Bradycardia

A slower than normal heart rate (in adults, slower than 60 beats per minute).


Angina pectoris

Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.


Myocardial fibrosis

Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.


Sinus bradycardia

Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.


Atrial arrhythmia

A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.


Sudden death

Rapid and unexpected death.


Right ventricular failure

Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly.


Left ventricular hypertrophy

Enlargement or increased size of the heart left ventricle.


Ventricular hypertrophy

Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.


Coronary artery calcification

An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery.


Pancreatic cysts

A cyst of the pancreas that possess a lining of mucous epithelium.


Nasal congestion

Reduced ability to pass air through the nasal cavity often leading to mouth breathing.


Splenomegaly

Abnormal increased size of the spleen.


Single ventricle

The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle.


Abnormal foot morphology

An abnormality of the skeleton of foot.


Abnormal delivery

An abnormality of the birth process.


Premature rupture of membranes

Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor.


Fragile nails

Nails that easily break.


Hallux valgus

Lateral deviation of the great toe (i.e., in the direction of the little toe).


Weight loss

Reduction of total body weight.


Abnormal bleeding

An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.


Neutropenia in presence of anti-neutropil antibodies

A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.


Thromboembolism

The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.


Hypoplastic anemia

Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.


Fever

Body temperature elevated above the normal range.


Ketosis

Presence of elevated levels of ketone bodies in the body.


Alkalosis

Depletion of acid or accumulation base in the body fluids.


Hyperammonemia

An increased concentration of ammonia in the blood.


Recurrent hypoglycemia

Recurrent episodes of decreased concentration of glucose in the blood.


Neonatal hypoglycemia

Blood glucose concentration below the lower limit of established reference ranges in a newborn.


Vomiting

Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.


Dysphagia

Difficulty in swallowing.


Nausea and vomiting

Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.


Nausea

A sensation of unease in the stomach together with an urge to vomit.


anorexia nervosa

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.


Esophageal stricture

A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.


Hypothermia

Reduced body temperature due to failed thermoregulation.


Lower limb spasticity

Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis


Bilateral tonic-clonic seizure

A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.


Abnormality of extrapyramidal motor function

A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).


Dyspnea

Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.


Respiratory distress

Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.


Apnea

Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.


Hemoptysis

Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.


Ischemic stroke

Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured.


Hypercalciuria

Abnormally high level of calcium in the urine.


Hyperkalemia

An abnormally increased potassium concentration in the blood.


Intracranial hemorrhage

Hemorrhage occurring within the skull.


Spinal cord compression

External mechanical compression of the spinal cord.


Pleural effusion

The presence of an excessive amount of fluid in the pleural cavity.


Fine hair

Hair that is fine or thin to the touch.


Hepatomegaly

Abnormally increased size of the liver.


intestinal disorder

A non-neoplastic or neoplastic disorder that affects the small or large intestine.


Hematemesis

The vomiting of blood.


Melena

The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.


Colonic diverticula

The presence of multiple diverticula of the colon.


Tetraparesis

Weakness of all four limbs.


Brittle hair

Fragile, easily breakable hair, i.e., with reduced tensile strength.


Akinesia

Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.


Drooling

Habitual flow of saliva out of the mouth.


Headache

Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.


Drowsiness

Abnormal feeling of sleepiness or difficulty staying awake.


Focal aware seizure

A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.


Difficulty walking

Reduced ability to walk (ambulate).


Visual hallucination

Visual perception in the absence of a visual stimulus.


Febrile seizure (within the age range of 3 months to 6 years)

A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.


Fasciculations

Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.


arteriovenous malformations of the brain

Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures.


Expressive aphasia

Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.


Myotonia

An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.


Hyperkinetic movements

Motor hyperactivity with excessive movement of muscles of the body as a whole.


Hematochezia

The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.


Gastrointestinal dysmotility

Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.


Abnormal peritoneum morphology

An abnormality of the peritoneum.


Polyphagia

A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.


Bowel incontinence

Involuntary fecal soiling in adults and children who have usually already been toilet trained.


Deep venous thrombosis

Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.


Fat malabsorption

Abnormality of the absorption of fat from the gastrointestinal tract.


Superficial thrombophlebitis

Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).


basal cell carcinoma

A carcinoma involving the basal cells.


Lymphadenopathy

Enlargment (swelling) of a lymph node.


Respiratory insufficiency due to muscle weakness


Pathologic fracture

A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.


Upper airway obstruction

Increased resistance to the passage of air in the upper airway.


Recurrent lower respiratory tract infections

An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.


Tachypnea

Very rapid breathing.


Hypoventilation

A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).


Arthralgia

Joint pain.


Aspiration

Inspiration of a foreign object into the airway.


Hyperventilation

Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.


Hypocalcemia

An abnormally decreased calcium concentration in the blood.


Hyponatremia

An abnormally decreased sodium concentration in the blood.


Elevated circulating hepatic transaminase concentration

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.


Hypomagnesemia

An abnormally decreased magnesium concentration in the blood.


Ketonuria

High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.


Ventral hernia

Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall.


Fused cervical vertebrae

A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.


Immune dysregulation

Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications.


Elbow dislocation

Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.


Hypoalbuminemia

Reduction in the concentration of albumin in the blood.


Abnormal blood ion concentration

Abnormality of the homeostasis (concentration) of a monoatomic ion.


Abnormal circulating lipid concentration

Any deviation from the normal concentration of a lipid in the blood circulation.


Hypercholesterolemia

An increased concentration of cholesterol in the blood.


Hyperuricosuria

An abnormally high level of uric acid in the urine.


Rhabdomyolysis

Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.


Arterial calcification

Pathological deposition of calcium salts in one or more arteries.


Hypernatremia

An abnormally increased sodium concentration in the blood.


Neonatal hyperbilirubinemia

A type of hyperbilirubinemia with neonatal onset.


Abdominal distention

Distention of the abdomen.


Abnormality of mitochondrial metabolism

A functional anomaly of mitochondria.


Myalgia

Pain in muscle.


Muscle spasm

Sudden and involuntary contractions of one or more muscles.


Paresthesia

Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.


Low back pain

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.


Exercise intolerance

A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.


Muscle stiffness

A condition in which muscles cannot be moved quickly without accompanying pain or spasm.


Increased muscle fatiguability

An abnormal, increased fatiguability of the musculature.


skeletal muscle disorder

A disease involving the skeletal muscle tissue.


Excessive salivation

Excessive production of saliva.


Shoulder dislocation

A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation.


Involuntary movements

Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.


Ventricular arrhythmia

A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles.


Short stature

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).


Increased body weight

Abnormally increased body weight.


Cachexia

Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.


Abnormality of acid-base homeostasis

An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.


Abnormality of temperature regulation

An abnormality of temperature homeostasis.


Mitral valve calcification

Abnormal calcification of the mitral valve.


Poor appetite

A reduced desire to eat.


Hyposmia

A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).


Deviated nasal septum

Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum.


Arterial thrombosis

The formation of a blood clot inside an artery.


Permanent atrial fibrillation

Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.


Supraventricular tachycardia

Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.


Paroxysmal atrial fibrillation

Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.


Paroxysmal supraventricular tachycardia

An episodic form of supraventricular tachycardia with abrupt onset and termination.


Duodenal polyposis

Presence of multiple polyps in the duodenum.


B Acute Lymphoblastic Leukemia

A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood.


Prolonged bleeding after surgery

Bleeding that persists longer than the normal time following a surgical procedure.


Ph-positive acute lymphoblastic leukemia

A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity.


Exercise-induced lactic acidemia

A form of lactic acidemia that occurs following exercise or exertion.


Congenital lactic acidosis

A form of lactic acidemia with congenital onset.


Ascending aortic dissection

A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.


Vascular calcification

Abnormal calcification of the vasculature.


Supraventricular arrhythmia

A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm.


Right ventricular dilatation

Enlargement of the chamber of the right ventricle.


Mitral annular calcification

Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus.


Abnormal left ventricular function

Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.


Prolonged QTc interval

A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.


Helicobacter pylori infection

A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach.


Cerebral venous thrombosis

Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.


Nezelof syndrome

Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.


T lymphocytopenia

An abnormally low count of T cells.


Bone marrow hypocellularity

A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.


Osteoporosis of vertebrae

Osteoporosis affecting predominantly the vertebrae.


Respiratory arrest

Cessation of breathing function.


Respiratory acidosis

Acidosis because of respiratory retention of carbon dioxide.


Metabolic ketoacidosis

A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake.


Agenesis of permanent teeth

A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.


Interstitial pneumonitis

Inflammation of interstitial lung tissue, usually associated with infection.


Chronic lung disease

According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.


recurrent pneumonia

Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see mycobacterium avium complex;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae.


obstructive lung disease

Any disorder marked by obstruction of conducting airways of the lung. airway obstruction may be acute, chronic, intermittent, or persistent.


Prolonged neonatal jaundice

Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.


Multifocal breast carcinoma

Breast carcinoma that is bilateral or otherwise multifocal.


Premature ventricular contraction

Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.


Papillary renal cell carcinoma type 2

A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification.


Loss of consciousness

Loss of alertness and orientation to place and time.


Focal-onset seizure

A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.


Abnormality of somatosensory evoked potentials

An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex.


primary anetoderma

Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause.


leiomyoma cutis

A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


Vitreous hemorrhage

Bleeding within the vitreous compartment of the eye.


Ocular hypertension

Intraocular pressure that is 2 standard deviations above the population mean.


Tractional retinal detachment

A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes.


Corneal opacity

A reduction of corneal clarity.


Adrenal hyperplasia

Enlargement of the adrenal gland.


Compensated hypothyroidism

Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4).


Androgen insufficiency

Insufficient amount of androgenic activity.


Bilateral sensorineural hearing impairment

A bilateral form of sensorineural hearing impairment.


Agonadism

Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females).


Auditory hallucination

Perception of sounds without auditory stimulus.


Quadriceps muscle atrophy

Muscular atrophy involving the quadriceps muscle.


generalized lipodystrophy

Almost complete absence of subcutaneous and/or visceral adipose tissue.


Abnormal adipose tissue morphology

An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.


sebaceous adenoma

A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells.


Perianal abscess

The presence of an abscess located around the anus.


Thickened ears

Increased thickness of the external ear.


Stridor

Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.


Chylothorax

Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.


pulmonary valve insufficiency

Dysfunction of the pulmonary valve characterized by incomplete valve closure.


Esophageal stenosis

An abnormal narrowing of the lumen of the esophagus.


Opsoclonus

Bursts of large-amplitude multidirectional saccades without intersaccadic interval


keloid

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.


Angiofibromas

Angiofibroma consist of many often dilated vessels.


Cervical spine instability

An abnormal lack of stability of the cervical spine.


Pedal edema

An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.


Dermatochalasis

Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.


Vascular ring

A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails.


Erythema

Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.


Abdominal wall defect

An incomplete closure of the abdominal wall.


Anemia of inadequate production

A kind of anemia characterized by inadequate production of erythrocytes.


Stress urinary incontinence

Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing.


High myopia

A severe form of myopia with greater than -6.00 diopters.


Impacted tooth

A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth).


Speech apraxia

A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.


spastic hemiplegia

A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body.


Hypervolemia

An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood.


Hypovolemia

An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood.


senile cataract

A cataract with no obvious cause occurring in persons over 50 years old.


Dry hair

Hair that lacks the luster (shine or gleam) of normal hair.


Caesarian section

Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy).


Mydriasis

Abnormal dilatation of the iris.


Patent ductus arteriosus after premature birth

Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation.


Right ventricular cardiomyopathy

Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.


Abnormality of the parathyroid physiology

A functional abnormality of the parathyroid gland.


Neoplasm by histology

Neoplasm categorized according to type of histological abnormality.


Post-partum hemorrhage

Significant maternal hemorrhage/blood loss following deilvery of a child.


Subconjunctival hemorrhage

Bleeding beneath the mucous membrane that lines the inner surface of the eyelid.


Hypofibrinogenemia

Decreased concentration of fibrinogen in the blood.


Recurrent acute respiratory tract infection

A history of repeated acute infections of the upper or lower respiratory tract.


Non-obstructive azoospermia

Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.


Decreased circulating copper concentration

A reduced concentration of copper in the blood.


Ectopic ossification

Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist.


Postprandial hyperglycemia

An increased concentration of glucose in the blood following a meal.


Paranoia

An inappropriate feeling of being persecuted or being the subject of hostility from others.


Aspirin-induced asthma

A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction.


Pendular nystagmus

Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.


Reactive hypoglycemia

Hypoglycermia following a meal (or more generally, after intake of glucose).


primary angle-closure glaucoma

An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.


Anhedonia

Inability to experience pleasurable activities usually found enjoyable.


Skin-picking

Repetitive and compulsive picking of skin which results in tissue damage.


Nail-biting

Habitual biting of one's own fingernails.


Cheyne-Stokes respiration

An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes.


Recurrent vulvovaginal candidiasis

Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida.


Reduced sperm motility

An abnormal reduction in the mobility of ejaculated sperm.


Abnormal renal physiology

An abnormal functionality of the kidney.


Tension-type headache

A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs.


Exudative retinal detachment

A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium.


Abnormal sudomotor regulation

An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration.


Macroprolactinoma

A pituitary prolactin cell adenoma of more than 10 mm diameter.


Fatigue

A subjective feeling of tiredness characterized by a lack of energy and motivation.


Peripheral edema

An abnormal accumulation of interstitial fluid in the soft tissues of the limbs.


Premature pubarche

The onset of growth of pubic hair at an earlier age than normal.


Hypercapnia

Abnormally elevated blood carbon dioxide (CO2) level.


Hypoxemia

An abnormally low level of blood oxygen.


Hyperoxemia

An abnormally high level of blood oxygen.


Chronic fatigue

Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.


Gallbladder dyskinesia

Reduced motility of the gallbladder with reduced emptying fraction.


Chronic constipation

Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.


Vocal tremor

A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability.


Descending aortic dissection

A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.


Pain

An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.


Allodynia

Pain due to a stimulus that does not normally provoke pain.


Dysesthesia

Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds.


Calcium phosphate nephrolithiasis

The presence of calcium- and phosphate-containing calculi (stones) in the kidneys.


Albuminuria

Increased concentration of albumin in the urine.


Moderate albuminuria

The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol).


Reduced left ventricular ejection fraction

A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.


Vasovagal syncope

A vasovagal episode or vasovagal syncope is the most common form of reflex syncope. Reflex syncope is a general term used to describe types of syncope resulting from a failure in autoregulation of blood pressure, and ultimately, in cerebral perfusion pressure resulting in transient loss of consciousness. The mechanisms responsible for this are complex and involve both depression of cardiac output as well as a decrease in vascular tone.


Ingrown nail

Excessive growth of a nail laterally into the nail fold.


Heart block

Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.


Cough

A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.


Abdominal obesity

Excessive fat around the stomach and abdomen.


Neurodevelopmental delay

Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.


Paroxysmal dyspnea

A sudden attack of dyspnea that occurs while the affected person is at rest.


Retinal astrocytic hamartoma

A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte.


Recurrent cystitis

Repeated infections of the urinary bladder.


Abnormal sperm morphology

A structural anomaly of sperm.


Viremia

The presence of virus in the blood.


Invasive fungal infection

Fungal infection characterized by invasion of host tissues.


Invasive pulmonary aspergillosis

Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis.


Branch retinal vein occlusion

Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels.


Adverse drug response

An unpleasant or harmful reaction resulting from treatment with a drug.


Refractory drug response

Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course.


Abnormal enteric nervous system morphology

A structural anomaly of nerves of the enteric nervous system.


Misophonia

Misophonia is characterized by strong physiological, emotional, and behavioral reactions to auditory, visual, and/or kinesthetic stimuli of different nature regardless of their physical characteristics. These misophonic responses include anger, general discomfort, disgust, anxiety, and avoidance and escape behaviors.


Fetal distress

An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.


Chills

A sudden sensation of feeling cold.


Shivering

Involuntary contraction or twitching of the muscles.


Left ventricular diastolic dysfunction

Abnormal function of the left ventricule during left ventricular relaxation and filling.


Left ventricular systolic dysfunction

Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent.


Bilateral tonic-clonic seizure with generalized onset

A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.


Stiff finger

A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity.


Snoring

Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping.


Panic attack

A sudden episode of intense fear in a situation where there is no danger or apparent cause.


Melasma

Symmetrical, blotchy, brownish facial pigmentation.


Exophoria

A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia.


Venous occlusion

Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein.


Thyroid nodule

A nodular lesion that develops in the thyroid gland. The term "thyroid nodule" refers to any abnormal growth that forms a lump in the thyroid gland.


Asthenia

A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.


Laryngospasm

A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.


Increased reactive oxygen species production

An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage.


Myocardial bridging

A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course.


Venous stenosis

Narrowing of a vein due to intimal hyperplasia and fibrosis.


Overweight

Increased body weight with a body mass index of 25-29.9 kg per square meter.


Calcinosis cutis

Deposition of calcium in the skin.


Palmoplantar scaling skin

Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot.


Peau d'orange

Swelling and dimpling of the surface of the skin, which is typically associated with carcinoma of the breast.


Polypoidal choroidal vasculopathy

The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization.


Submacular hemorrhage

Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.


Posterior blepharitis

A type of blepharitis that affects the meibomian glands and meibomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia.


Vasospasm

Narrowing of an artery due to constriction of the blood vessels.


Steroid-dependent nephrotic syndrome

A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy.


Impaired fasting glucose

Impaired fasting glucose (IFG) is indicated by a fasting plasma glucose above normal but below the diabetic range. Levels between 110 mg/dl (6.1 mmol/l) to 125 mg/dl (6.9 mmol/l) are diagnostic of IFG.


EMG: repetitive nerve stimulation abnormality

Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz.


Female sexual dysfunction

A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity


Plasmacytosis

An abnormally increased number of plasma cells in tissues, exudates, or blood


Night sweats

Occurrence of excessive sweating during sleep.


Gastric varix

Extreme dilation of the submucusoal veins in the stomach.


Paradoxical respiration

Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing.


Splanchnic vein thrombosis

The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity).


Induced vaginal delivery

Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own.


Therapeutic abortion

Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice.


Macular thickening

Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging.


Retinal neovascularization

In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment.


supratentorial cancer

Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation.


Intraventricular hemorrhage

Bleeding into the ventricles of the brain.


Ear pain

Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia).


Enlarged tonsils

Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat.


Wheezing

A high-pitched whistling sound associated with labored breathing.


Cardiac amyloidosis

Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.


Addictive behavior

When an activity, substance, object, or behavior becomes a major focus of a person's life, excluding other activities, or has begun to harm the individual or others physically, mentally, or socially, it can be considered addictive behavior. A person can become addicted or compulsively engaged with anything.


shoulder impingement syndrome

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)


Femoroacetabular impingement

Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis.


Hyperintensity of cerebral white matter on MRI

A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.


Aortic stiffness

The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension.


Thin-cap fibroatheroma

Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring less than 65 micrometers and typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis.


Chronic infection

Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection.


Vaginal dryness

Persistent vaginal dryness.


Vitreomacular adhesion

Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions.


Vitreomacular traction

Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad.


Myelokathexis

Impaired egress of mature neutrophils from bone marrow causing neutropenia.


Erythema migrans

An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter).


Hot flashes

Sudden feelings of warmth that are generally most pronounced over the face, neck and chest.


Subfoveal choroidal neovascularization

A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea.


Parageusia

A distortion of the sense of taste, often characterized by the sensation of a metallic taste.


Shock

The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury.


Hypovolemic shock

A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures.


Distributive shock

A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage


Flushing

Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.


Cutaneous abscess

A circumscribed area of pus or necrotic debris in the skin.


Peripheral arterial calcification

An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall.


Transthyretin cardiac amyloidosis

A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining.


Sleep onset insomnia

Difficulty initiating sleep, that is, increased sleep onset latency, refers to the condition where it takes 30 minutes or more to fall asleep.


Ecchymosis

A purpuric lesion that is larger than 1 cm in diameter.


Short telomere length

An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur.


Rhinorrhea

Increased discharge of mucus from the nose.


Negative affectivity

A tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states.


continuous spikes and waves during sleep

Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.


Abdominal mass

An abnormal enlargement or swelling in the abdomen.


Pelvic mass

An abnormal enlargement or swelling in the pelvic region.


Suicidal ideation

Frequent thoughts about or preoccupation with killing oneself.


Geographic atrophy

Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium.


Brow ptosis

Drooping of the upper eyebrow below the superior orbital rim.


Opportunistic infection

An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system.


Vocal cord dysfunction

Any functional anomaly of the vocal cord.


Freezing of gait

Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk.


Femur fracture

A break or crush injury of the thigh bone (femur).


Ineffective esophageal peristalsis

Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus.


Digital ulcer

An open sore on the surface of the skin of a finger or toe.


Akathisia

A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria.


Pruritus vulvae

A sensation of itching in the vulvar region.


Focal cortical dysplasia

A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.


Hypereosinophilia

A severely increased count of eosinophils in the blood defined as a blood eosinophil count of at least 1.5 billion cells per liter.


Left ventricular outflow tract obstruction

Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle.


Recurrent genital herpes

Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks.


Severe infection

A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.


Anal intraepithelial neoplasia

Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer.


Granuloma

A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis.


Nontuberculous mycobacterial pulmonary infection

An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease.


Periodic fever

Episodic fever that recurs at regular intervals.


Lacunar stroke

A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain.


Methicillin-resistant Staphylococcus aureus infection

Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection.


Breast mass

A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician.


Convulsive status epilepticus

A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.


Neonatal seizure

A seizure occurring within the neonatal period (28 days beyond the full term date).


Refractory status epilepticus

Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine.


plantar wart

A wart in the plantar surface of the foot. It is caused by human papillomavirus.


Hyperpyrexia

An extreme elevation of core body temperature above normal defined as a rectal temperature of 41.1 degrees Celsius (106 degrees Fahrenheit).


Nummular eczema

A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet


Cognitive fatigue

A failure to sustain attention that requires self-motivation to optimize performance.


Sudden unexpected death in epilepsy

Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death.


Enterocutaneous fistula

An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin.


Nail psoriasis

Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed.


Acute phase response

Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing.


Acute abdomen

A sudden onset of abdominal pain with associated nausea or vomiting. The acute abdomen may be caused by an infection, inflammation, vascular occlusion, or obstruction.


Tube feeding

Feeding problem necessitating food and nutrient delivery via a tube.


Addictive stimulant use

Addiction to a stimulant drug is defined as a drug that typically increases alertness, attention, and energy while also elevating blood pressure, heart rate, and breathing.


Addictive amphetamine use

Addiction to amphetamine or dextroamphetamine is a serious concern.


Addictive benzodiazepine use

Addiction to a benzodiazepine.


Addictive methamphetamine use

Addiction to methamphetamine.


Decreased cardiac output

A decreased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat.


Stasis dermatitis

Stasis dermatitis commonly occurs in older age. It is caused by venous hypertension resulting from retrograde flow due to incompetent venous valves, valve destruction, or obstruction of the venous system. Further tissue changes arise from an inflammatory process mediated by metalloproteinases, which are up-regulated by ferric ion from extravasated red blood cells. Stasis dermatitis presents initially as poorly demarcated erythematous plaques of the lower legs bilaterally, classically involving the medial malleolus.


Pre-capillary pulmonary hypertension

Pre-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg).


Flatulence

Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating.


Staghorn calculus

Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system.


Pulmonary nodule

Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging.


Brain fog

Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is "cloudy". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously.


Air trapping

Air trapping is retention of air in the lung distal to an obstruction (usually partial). Air trapping is seen on end-expiration CT scans as parenchymal areas with less than normal increase in attenuation and lack of volume reduction. Comparison between inspiratory and expiratory CT scans can be helpful when air trapping is subtle or diffuse.


Diminished mental health

A reduction in the subjective feeling of mental well being.


Frailty

A clinically recognizable state of increased vulnerability resulting from a decline in reserve and function across multiple physiologic systems such that the ability to cope with everyday or acute stressors is compromised.


Progressive massive fibrosis

This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and in the upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis.


Repeated implantation failure

Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles.


Hypoesthesia

Decreased ability to perceive touch.


Pancreatic steatosis

Fat infiltration in the pancreas.


middle cerebral artery infarction

Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction.


Mediastinal mass

A mass in the mediastinum seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).


Malaise

A feeling of general discomfort, weakness, or lack of health.


Dysphoria

A state of feeling very unhappy, uneasy, or dissatisfied.


Postmenopausal bleeding

Uterine bleeding that occurs after at least one year of amenorrhea in a woman who is not receiving hormone therapy.


Early satiety

The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food.


Parosmia

Misperception of existing odor, that is, distorted or altered olfactory perception in the presence of known stimuli.


Pulmonary thromboembolism

Pulmonary embolism is caused by emboli, which have originated from venous thrombi, traveling to and occluding the arteries of the lung.


Renal vein thrombosis

The presence of a thrombus (blood clot) in the major renal veins or its tributaries, generally leading to passive congestion that develops causes the affected kidney to swell and become engorged, leading to degeneration of nephrons and causing symptoms of flank pain, hematuria, and decreased urine output.


Mastalgia

Pain in the breast.


Chronic cough

A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children.


Reduced circulating growth hormone concentration

Concentration of growth hormone in the blood circulation below normal limits.


Joint contracture

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.


Tooth avulsion

A type of dental trauma characterized by total dislocation of the tooth from its socket.


Ovarian torsion

Ovarian torsion is a twisting of the ligaments that support the adnexa, cutting off the blood flow to the ovary.


Lumbar spondylosis

Arthrosis, i.e., of degenerative joint disease, affecting the lumbar vertebral column.


Thymic carcinoid tumor

A primary thymic neuroendocrine tumor.


Synkinesis

Unintentional movement in one area of the body produced during intentional movement of another area of the body.


Inappropriate sinus tachycardia

Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands.


Oral bleeding

Bleeding originating from the mouth.


familial nonmedullary thyroid carcinoma

Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting.


Hypopnea

Hypopnea is referring to breathing that is abnormally shallow.


Pulmonary hemorrhage

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.


Hyperfibrinolysis

Increased degradation of fibrin, associated with clot instability and bleeding


Oligoarthritis

A type of arthritis that affects up to four joints in the first six months of disease.


Left ventricular thrombus

A blood clot (thrombus) localized in the left ventricle. Left ventricular thrombus is a serious complication of acute myocardial infarction and also of non-ischemic cardiomyopathies.


Fractured lower leg

Bone fracture anywhere in the tibia, fibula, or ankle.


Fractured tibia

A partial or complete breakage of the tibia.


Fractured fibula

A partial or complete breakage of the fibula.


Fractured carpal bone

A partial or complete breakage of the carpal bone.


Thin eyebrow

Decreased diameter of eyebrow hairs.


Sparse eyebrow

Decreased density/number of eyebrow hairs.


Bradypnea

Bradypnea is referring to breathing that is abnormally slow.


Recurrent singultus

A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc.


Subdural hemorrhage

Hemorrhage occurring between the dura mater and the arachnoid mater.


Reduced blood folate concentration

A reduced circulating concentration of folic acid, which is also known as vitamin B9.


Decreased circulating vitamin E concentration

A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol.


Dysuria

Painful or difficult urination.


Oliguria

Low output of urine, clinically classified as an output below 300-500ml/day.


Inflammatory abnormality of the eye

Inflammation of the eye, parts of the eye or the periorbital region.


Femoral hernia

A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal.


Cognitive impairment

Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.


Tendon rupture

Breakage (tear) of a tendon.


carcinoid tumor

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.


Lipoatrophy

Localized loss of fat tissue.


Rectal fistula

The presence of a fistula affecting the rectum.


Dysmenorrhea

Pain during menstruation that interferes with daily activities.


Metrorrhagia

Bleeding at irregular intervals.


myositis disease

An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue.


Erectile dysfunction

A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.


Cystocele

Anterior vaginal wall prolapse with bulging of the bladder into the vagina.


Dyskinesia

A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.


Decreased corneal thickness

A decreased anteroposterior thickness of the cornea.


Impulsivity

Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in self-harming behavior when under emotional distress.


Self-injurious behavior

Self-aggression.


Mediastinal lymphadenopathy

Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.


Atelectasis

Collapse of part of a lung associated with absence of inflation (air) of that part.


Mania

A state of abnormally elevated or irritable mood, arousal, and/or energy levels.


Hernia

The protrusion of part of an organ or fibroadipose tissue through an abnormal opening.


Sepsis

Systemic inflammatory response to infection.


Halitosis

Noticeably unpleasant odors exhaled in breathing.


Rectocele

A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy.


Lymphocytosis

Increase in the number or proportion of lymphocytes in the blood.


Vitreous floaters

Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent.


Pancreatic fistula

An abnormal communication between the pancreas and another organ or cavity.


Enlarged uterus

An increase in the overall dimensions or volume of the uterus compared to normal.


Skin ulcer

A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.


Metastatic angiosarcoma

An angiosarcoma that has spread to another anatomical site.


Metabolic alkalosis

Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process.


Epileptic encephalopathy

A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.


Oral-pharyngeal dysphagia

Difficulty in swallowing due to an abnormality in the mouth or throat.


Polymenorrhea

Frequent menses; menstrual cycles lasting less than 21 days.


Recurrent oral herpes

Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus.


Drug-induced anaphylaxis

A form of anaphylaxis that is triggered by intake of drugs or medications.


Hyperketonemia

An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood.


Dust mite allergy

Hypersensitivity in form of an adverse immune reaction against dust mites.


Hypertension resistant to conventional therapy

Resistant hypertension is defined as above-goal elevated blood pressure in a patient despite the concurrent use of 3 antihypertensive drug classes, commonly including a long-acting calcium channel blocker, a blocker of the renin-angiotensin system (angiotensin-converting enzyme inhibitor or angiotensin receptor blocker), and a diuretic.


Body odor

A perceived unpleasant smell given off by the body.


Pseudophakia

The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL).


Isolated systolic hypertension

Elevated systolic blood pressure without an elevated blood pressure.


Verruca plana

Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals.


Bronchoconstriction

Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath.


Intestinal inflammation

A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract.


Selective mutism

Voluntary failure to use spoken language (at whatever level attained) in selective social contexts over a period of time.


Nightmares

Frightening dreams, typically occurring during REM sleep, are normal and common in children under 10. However, they can also impact teenagers and adults.


Diminishment of relationship seeking

A reduction in the tendency of a person to seek new interpersonal relationships or maintain existing relationships.


Binge drinking

A pattern of episodic heavy alcohol use characterized by the consumption of a high number of drinks per occasion.


Social Anxiety

Excessive fear of embarrassment, humiliation, or rejection when exposed to possible negative evaluation by others when engaged in a public performance or social interaction.


Forearm

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the forearm.


Preterm premature rupture of membranes

PPROM (preterm premature rupture of membranes) occurs at less than 37 weeks of gestation. PPROM can happen spontaneously, during preterm labor, or following a procedure such as amniocentesis.


Flank mass

An abnormal enlargement or swelling in the flank, which is the fleshy part of the side of the body between the ribs and the hip.


Synovial cyst

A fluid-filled sac or pouch-like mass that is a distention of a preexisting bursa in a joint, tendon sheaths or bursae. Synovial cysts contain synovial fluid and are lined by synovial membrane.


Rest limb pain

Rest pain is a continuous unrelenting pain due to ischemia of the lower leg, beginning with or being aggravated by elevation and being relieved by sitting with legs in a dependent position or by standing.


Femoral neck fracture

A partial or complete breakage of the neck of femur.


Elevated myocardial iron load

Increased amount of iron in myocardial tissue.


Left atrial fibrosis

Atrial fibrosis is an hallmark of atrial structural remodelling, characterized by the aberrant activation, proliferation and differentiation of fibroblasts, and subsequent excessive synthesis and irregular deposition of extracellular matrix proteins.


adrenocortical insufficiency

An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency).


nocturnal enuresis

Urination during sleep.


pelvic organ prolapse

Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence.


precocious puberty

Unusually early sexual maturity.


Chiari malformation

A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus.


polyposis

A condition characterized by the presence of numerous polyps.


transposition of the great arteries

A congenital cardiac defect in which two heart vessels are reversed (transposed).


developmental dysplasia of the hip

A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation.


bone marrow failure syndrome

A familial or acquired bone marrow failure syndrome.


GLUT1 deficiency syndrome

An epileptic encephalopathy resulting from impaired glucose transport into the brain.


ventricular fibrillation

A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC)


hypercalcemia, infantile

A hypercalcemia disease that occurs between 28 days to one year of life.


invasive aspergillosis

An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.


dengue shock syndrome

A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth.


systemic mycosis

A mycosis that involves the lungs, abdominal viscera, bones and or central nervous system.


acute diarrhea

Acute form of diarrhea.


adenoiditis

An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil.


otomycosis

Fungus infection of the external ear, usually by aspergillus species


aspiration pneumonia

A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper respiratory tract.


hypophosphatemia

Lower than normal levels of phosphates in the circulating blood.


Buruli ulcer disease

A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers.


hyperphosphatemia

Abnormally high level of phosphate in the blood.


paranasal sinus carcinoma

A malignant epithelial neoplasm arising in the paranasal sinus.


vitelliform macular dystrophy

A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision.


partial fetal alcohol syndrome

A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure.


spastic cerebral palsy

A form of cerebral palsy wherein spasticity is the exclusive impairment present.


mixed cerebral palsy

A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy.


small cell carcinoma

A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble "oat cells" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early.


anal canal cancer

A malignant neoplasm involving the anal canal


fetal alcohol spectrum disorder

A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues.


chorioamnionitis

A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion.


X-linked disease

X-linked form of disease.


mature T-cell and NK-cell non-Hodgkin lymphoma

This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma.


lymphoplasmacytic lymphoma

A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein.


cerebellar ataxia

A neurological syndrome characterized by clumsy and uncoordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways.


metabolic acidosis

Increased acidity in the blood secondary to acid base imbalance. Causes include diabetes, kidney failure and shock.


autosomal dominant polycystic liver disease

An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver.


paraganglioma

A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases.


secondary progressive multiple sclerosis

A multiple sclerosis with a clinical course characterized by a progressive accumulation of neurological disability, independent of relapses, following an initial relapsing-remitting (RR) phase.


primary progressive multiple sclerosis

A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.


progressive relapsing multiple sclerosis

A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.


atrioventricular block

A heart block that is initiated in the atrioventricular node.


third-degree atrioventricular block

A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC)


tricuspid valve disorder

A disease involving the tricuspid valve.


arterial disorder

An impairment of the structure or function of the blood vessels which carry blood away from the heart.


focal dystonia

A dystonia that is localized to a specific part of the body.


cervical dystonia

Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery.


spasmodic dystonia

A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx.


limb ischemia

A ischemia that involves the limb.


chronic venous insufficiency

Chronic form of venous insufficiency (disease).


oppositional defiant disorder

A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors.


hemorrhagic cystitis

Inflammation of the bladder resulting in bloody urine.


non-arteritic anterior ischemic optic neuropathy

An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates.


synucleinopathy

A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibers or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]


salivary gland carcinoma

A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma.


colon adenoma

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


small intestinal neuroendocrine tumor G1

A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.


mucosal melanoma

A melanoma that arises from a mucosal site.


ovarian clear cell cancer

An invasive malignant neoplasm that arises from the ovary and is characterized by a predominance of clear and hobnail malignant epithelial cells.


breast lobular carcinoma

An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal.


infective endocarditis

Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue.


pervasive developmental disorder

A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions.


aphasia

A language disorder that involves an acquired impairment of any language modality such as producing or comprehending spoken or written language.


hypersensitivity reaction disease

An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system.


primary cutaneous T-cell non-Hodgkin lymphoma

A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma.


progesterone-receptor positive breast cancer


progesterone-receptor negative breast cancer


Her2-receptor negative breast cancer

A breast adenocarcinoma that is negative for the expression of the HER2 receptor.


breast benign neoplasm

A non-metastasizing neoplasm arising from the breast parenchyma.


benign female reproductive system neoplasm

A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor.