Glossary

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Term Definition
Endoscopic retrograde cholangiopancreatography (ERCP)

Medical test that combines the use of a flexible, lighted scope (endoscope) with X-ray pictures to examine the tubes that drain the liver, gallbladder, and pancreas.

Endoscopy

Procedure that lets your doctor look inside your body using an instrument called an endoscope, or scope for short. Scopes have a tiny camera attached to a long, thin tube. The doctor moves it through a body passageway or opening to see inside an organ.

Erythrocytosis

An abnormal increase in the number of circulating red blood cells.

Esophageal pH test

Procedure performed to measure the pH or amount of acid that flows into the esophagus from the stomach during a 24-hour period.

Failure to Thrive

In children, either a low weight for the child's age or a low rate of increase in weight, usually caused by a medical or physiological condition.

Femur

Thigh bone

Fibrous Dysplasia

Fibrous dysplasia is a bone disorder in which scar-like (fibrous) tissue develops in place of normal bone. As the bone grows, the softer, fibrous tissue expands, weakening the bone. Fibrous dysplasia can cause the affected bone to deform and become suscep

Fibula

The outer of the two bones in the lower leg.

Flexible Scoliosis

Crooked posture due to a problem that does not involve the spine, such as having legs that are different lengths or muscle spasms caused by pain. These can cause a child to lean to the side, creating the appearance of scoliosis. The curvature, however, is

Gallbladder

Small organ that aids mainly in fat digestion and concentrates bile produced by the liver.

Gestational diabetes

A condition characterized by high blood sugar (glucose) levels that is first recognized during pregnancy.

Gestational hypertension (high blood pressure)

Condition in which a woman has a blood pressure higher than 140/90 without the presence of protein in the urine and diagnosed after 20 weeks of pregnancy.

Heart murmur

An abnormal sound heard on listening to the heart; produced by the blood passing through deformed cardiac valves.

Hemangiomatosis

Presence of multiple hemangiomas. A hemangioma is an abnormal buildup of blood vessels in the skin or internal organs.

Hemiplegia

Total paralysis of the arm, leg, and trunk on the same side of the body.

Hiccups

A hiccup is an unintentional movement (spasm) of the diaphragm, the muscle at the base of the lungs. The spasm is followed by quick closing of the vocal cords, which produces a distinctive sound.

Humerus

Bone of the upper arm between the elbow and the shoulder.

Hydronephrosis

Swelling of one kidney due to a backup of urine that occurs with a disease. It is not a disease itself.

Hyper-reflexia (overactive reflexes)

Overactive or over-responsive reflexes; twitching or spastic tendencies

Hyperlipidemia

An increase in the amount of fat (such as cholesterol and triglycerides) in the blood.

Hypertension

Blood pressure higher than 120/80

Hyperthyroid

Condition in which the thyroid gland produces too much of the hormone thyroxine. Symptoms include sudden weight loss, a rapid or irregular heartbeat, sweating, and nervousness or irritability.

Hypertrophic cardiomyopathy

Associated with thickening of the heart muscle, most commonly the septum (wall) between the lower chambers of the heart (ventricles). This stiffening of the walls of the heart causes abnormal aortic and mitral heart valve function, both of which may imped

Hypo-reflexia

Condition of below normal or absent reflexes.

Hypophosphatasia (HPP)

Hypophosphatasia is an inherited metabolic (chemical) bone disease that results from low levels of an enzyme called alkaline phosphatase (ALP), causing defective calcification of bones in infants and children (rickets) and in adults (osteomalacia).

Hypoplastic Left Heart Syndromeÿ(HLHS)

Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect in which the left side of the heart is underdeveloped. Often fatal without early intervention, it will typically require open heart surgery to re-direct the oxygen-rich ('red') blo

Hypothyroid

Hypothyroidism is a condition in which the body lacks sufficient thyroid hormone.

Hypotonia

Hypotonia means decreased muscle tone. It can be a condition on its own, called benign congenital hypotonia, or it can be indicative of another problem where there is progressive loss of muscle tone, such as muscular dystrophy or cerebral palsy. It is usu

Iron overload syndrome (hemochromatosis and porphyria)

Abnormal accumulation of iron in the body from any cause, also known as hemochromatosis

Jaundice

High levels of bilirubin in the blood causing the skin and whites of the eyes to look yellow. Bilirubin is a yellow substance that the body creates when it replaces old red blood cells. The liver helps break down the substance so it can be removed from th

Kawasaki Disease

Serious illness characterized by inflammation of blood vessels throughout the body that primarily affects young children and infants.

Kyphosis

A forward curvature of the back bones (vertebrae) in the upper back area, resulting in an abnormally rounded or 'humpback'

Large Intestines

The last part of the digestive system; colon.

Learning Disability

General term that describes specific kinds of learning problems. A learning disability can cause a person to have trouble learning and using certain skills.

Leg Length Discrepancy

One leg longer than the other.

Lordosis

The inward curvature of a portion of the lumbar and cervical vertebral column; swayback.

Lymphangiogram or Lymphoscintigraphy

Medical test which utilizes x-ray technology, along with the injection of a contrast agent, to view lymphatic circulation and lymph nodes for diagnostic purposes.

Macular stain (Stork bite or Angel kiss)

A small birthmark that is a small, mild, red blemish on the skin. When found in the nose or forehead often called 'Angel Kisses' and on the back of the neck 'Stork Bites.' Usually disappears by age two, though 'Stork Bites' may persist into adulthood.

Malnutrition

Condition that occurs when your body does not get enough nutrients either because of a poor diet or a condition in which the body is unable to absorb or utilize nutrients.

Manometry testing

Medical test used to measure the pressure inside the lower part of the esophagus.

McCune-Albright Syndrome

Genetic disease that affects the bones and color (pigmentation) of the skin.

Meniere's disease

Disease of the ear that can cause severe dizziness, a roaring sound in your ears called tinnitus, hearing loss that comes and goes and the feeling of ear pressure or pain. It usually affects just one ear.

Meningitis

Serious disease caused by the inflammation of the protective membranes covering the brain and spinal cord known as the meninges.

Migraine

A severe, painful headache that is often preceded or accompanied by sensory warning signs such as flashes of light, blind spots, tingling in the arms and legs, nausea, vomiting, and increased sensitivity to light and sound. The excruciating pain that migr

Mitral valve regurgitation

Heart condition in which the mitral valve doesn't close tightly, allowing blood to flow backward in the heart. When this happens, blood can't move through the heart or to the rest of the body as efficiently, making a person feel tired or out of breath.

Mongolian spot

Flat birthmarks that can be deep brown, slate gray, or blue-black in color and sometimes look similar to bruises. The edges are often, but not always, indistinct. They are most common on the lower back and buttocks, but are often found on the legs, back,

Moyamoya Disease

A neurovascular disease in which certain arteries in the brain are constricted, blocking blood flow and leading to stroke.

MRI (magnetic resonance imaging)

Radiology technique that uses magnetism, radio waves, and a computer to produce images of body structures

Myelodysplastic Syndrome

A group of conditions that occur when the blood-forming cells in the bone marrow are damaged, leading to low numbers of one or more type of blood cells.

Myelofibrosis

Rare cancer of the bone marrow in which the marrow is replaced by scar tissue and is not able to make healthy blood cells.

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