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Medical terminology diseases and disorders


the defective development, or the congenital absence, of an organ or tissue


describes the congenital absence of a normal opening or the failure of a structure to be tubular

cystic fibrosis

a genetic disorder in which the lungs and pancreas are clogged with large quantities of abnormally thick mucus

Down syndrome

a genetic variation that is associated with characteristic facial appearance, learning disabilities, and physical abnormalities such as heart valve disease

fetal alcohol syndrome

caused by the mother's consumption of alcohol during the pregnancy

functional disorder

produces symptoms for which no physiological or anatomical cause can be identified

genetic disorder

a pathological condition caused by an absent or defective gene

Huntington's disease

a genetic disorder that is passed from parent to child that causes nerve degeneration with symptoms that most often appear in midlife

muscular dystrophy

the term used to describe a group of genetic diseases that are characterized by progressive weakness and degeneration of the skeletal muscles that control movement

nosocomial infection

a disease acquired in a hospital or clinical setting

organic disorder

produces symptoms caused by detectable physical changes in the body


a genetic disorder in which the essential digestive enzyme phenylalanine hydroxylase is missing

Tay-Sachs disease

a fatal genetic disorder in which harmful quantities of a fatty substance build up in tissues and nerve cells in the brain

Colles' fracture

occurs at the lower end of the radius when a person tries to stop a fall by landing on his or her hands

hallux valgus

an abnormal enlargement of the joint at the base of the great toe (bunion)

juvenile rheumatoid arthritis

an autoimmune disorder that affects children aged 16 years or less with symptoms that include stiffness, pain, joint swelling, skin rash, fever, slowed growth, and fatigue

Paget's disease

a bone disease of unknown cause characterized by the excessive breakdown of bone tissue, followed by abnormal bone formation

primary bone cancer

a relatively rare malignant tumor that originates in a bone

secondary bone cancer

describes tumors that have metastasized to bones from other organs such as the breasts and lungs

short stature

a condition resulting from the failure of the bones of the limbs to grow to an appropriate length

spina bifida

a congenital defect that occurs during early pregnancy when the spinal canal fails to close completely around the spinal cord to protect it

Achilles tendinitis

a painful inflammation of the Achilles tendon caused by excessive stress being placed on that tendon

carpal tunnel syndrome

occurs when the tendons that pass through the carpal tunnel are chronically overused and become inflamed and swollen

compartment syndrome

involves the compression of nerves and blood vessels due to swelling within the enclosed space created by the fascia that separates groups of muscles

fibromyalgia syndrome

a debilitating chronic condition characterized by fatigue, diffuse and or specific muscle, joint, or bone pain, and a wide range of other symptoms

ganglion cyst

a harmless fluid-filled swelling that occurs most commonly on the outer surface of the wrist

impingement syndrome

occurs when inflamed and swollen tendons are caught in the narrow space between the bones within the shoulder joint

intermittent claudication

pain in the leg muscles that occurs during exercise and is relieved by rest

myasthenia gravis

a chronic autoimmune disease that affects the neuromuscular junction and produces serious weakness of voluntary muscles

myofascial pain syndrome

a chronic pain disorder that affects muscles and fascia throughout the body

spasmodic torticollis

a stiff neck due to spasmodic contraction of the neck muscles that pull the head toward the affected side

ischemic heart disease

a group of cardiac disabilities resulting from an insufficient supply of oxygenated blood to the heart


a type of cancer characterized by a progressive increase in the number of abnormal leukocytes found in blood forming tissues, other organs, and in the circulating blood

megaloblastic anemia

a blood disorder characterized by anemia in which the red blood cells are larger than normal

pernicious anemia

caused by a lack of the protein intrinsic factor that helps the body absorb vitamin B-12 from the gastrointestinal tract

Raynaud's phenomenon

a peripheral arterial occlusive disease in which intermittent attacks are triggered by cold or stress

Raynaud's phenomenon

a peripheral arterial occlusive disease in which intermittent attacks are triggered by cold or stress


an inherited blood disorder that causes mild or severe anemia due to reduced hemoglobin and few red blood cells than normal

transfusion reaction

a serious, and potentially fatal, complication of a blood transfusion in which a severe immune response occurs because the patient's blood and the donated blood do not match

acquired immunodeficiency syndrome (AIDS)

the most advanced, and fatal, stage of an HIV infection


a severe response to an allergen in which the symptoms develop quickly, and without help, the patient can die within a few minutes.

autoimmune disorder

any of a large group of diseases characterized by a condition in which the immune system produces antibodies against its own tissues


infections occurring on the skin or mucous membranes in the warm, moist areas such as the vagina or the mouth


a malignant tumor that occurs in epithelial tissue

carcinoma in situ

describes a malignant tumor in its original position that has not yet disturbed or invaded the surrounding tissues

ductal carcinoma in situ

breast cancer at its earliest stage before the cancer has broken through the wall of the milk duct

herpes zoster

an acute viral infection characterized by painful skin eruptions that follow the underlying route of an inflamed nerve

Hodgkin's lymphoma

distinguished from other lymphomas by the presence of large, cancerous lymphocytes known as Reed-Sternberg cells

human immunodeficiency virus (HIV)

a bloodborne infection in which the virus damages or kills the cells of the immune system, causing it to progressively fail

infectious mononucleosis

an infection caused by the Epstein-Barr virus (EBV) that is characterized by fever, a sore throat, and enlarged lymph nodes

infiltrating ductal carcinoma

starts in the milk duct, breaks through the wall of that duct, and invades the fatty breast tissue

infiltrating lobular carcinoma

cancer that starts in the milk glands, breaks through the wall of the gland, and invades the fatty tissue of the breast

inflammatory breast cancer

the most aggressive and least common form of breast cancer

Kaposi's sarcoma

a cancer that causes patches of abnormal tissue to grow under the skin, in the lining of the mouth, nose, and throat, or in other organs; frequently associated with HIV

Lyme disease

caused by the spirochete Borrelia burgdorferi and is transmitted to humans by the bite of an infected deer tick

Non-Hodgkin's lymphoma

the term used to describe all lymphomas other than Hodgkin's lymphoma

opportunistic infection

caused by a pathogen that does not normally produce an illness in healthy humans

Rocky Mountain spotted fever

caused by Rickettsis rickettsii and is transmitted to humans by the bite of an infected tick


a viral infection characterized by a low-grade fever, swollen glands, inflamed eyes, and a fine, pink rash


a malignant tumor that arises from connective tissues, including hard tissues, soft tissues, and liquid tissues

septic shock

a serious condition that occurs when an overwhelming bacterial infection affects the body

tinea pedis

a fungal infection that commonly develops between the toes and on the feet

West Nile virus

spread to humans by the bite of an infected mosquito

acute respiratory distress syndrome (ARDS)

a form of the sudden onset of severe lung dysfunction affecting both lungs, making breathing extremely difficult

Cheyne-Stokes respiration

a pattern of alternating periods of hypopnea or apnea, followed by hyperpnea

chronic obstructive pulmonary disease

a lung disease in which it is hard to breathe; COPD


an acute respiratory syndrome in children and infants characterized by obstruction of the larynx, hoarseness, and a barking cough

sudden infant death syndrome (SIDS)

the sudden and unexplainable death of an apparently healthy sleeping infant between the ages of 2 weeks and 1 year

anorexia nervosa

an eating disorder characterized by a false perception of body appearance

aphthous ulcers

grey-white pits with a red border in the soft tissues lining the mouth; also known as canker sores or mouth ulcers


an abnormal accumulation of serous fluid in the peritoneal cavity


food poisoning characterized by paralysis and often death; caused by the bacterium Clostridium botulinum

bulimia nervosa

an eating disorder characterized by frequent episodes of binge eating followed by inappropriate compensatory behaviors such as self-induced vomiting


a condition of physical wasting away due to the loss of weight and muscle mass that occurs in patients with diseases such as advanced cancer or AIDS


severe diarrhea, vomiting, and dehydration caused by the bacterium Vibrio cholera


a progressive degenerative disease of the liver

cleft lip

a birth defect in which there is a deep groove of the lip running upward to the nose as a result of the failure of this portion of the lip to close during prenatal development

cleft palate

the failure of the palate to close during the early development of the fetus

Crohn's disease

a chronic autoimmune disorder that is most often found in the ileum and in the colon

irritable bowel syndrome

a common condition of unknown cause with symptoms that can include intermittent cramping, abdominal pain, bloating, constipation, and/or diarrhea

inflammatory bowel disease

the general name for diseases that cause inflammation in the intestines


the passage of black, tarry, and foul-smelling stools

nonalcoholic fatty liver disease

describes a range of conditions characterized by an accumulation of fat within the liver that affect people who drink little or no alcohol


an infectious disease of the intestines that is transmitted by food contaminated with feces

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