Congenital disease
From WikiMD's Food, Medicine & Wellness Encyclopedia
A disease or disorder that is inherited genetically.
List of congenital disorders[edit | edit source]
Glossary[edit | edit source]
- chin - noun the protruding part of the lower jaw; Kamarupan languages spoken in western Burma and Bangladesh and easternmost India; verb raise oneself while hanging from one's hands until one's chin is level with the support bar
- Face - noun a vertical surface of a building or cliff; the side upon which the use of a thing depends (usually the most prominent surface of an object); the striking or working surface of an implement; the general outward appearance of something; status in the eyes of others; the front of the human head from the forehead to the chin and ear to ear; the part of an animal corresponding to the human face; a part of a person that is used to refer to a person; the feelings expressed on a person's face; impudent aggressiveness; a specific size and style of type within a type family; a contorted facial expression; a surface forming part of the outside of an object; verb cover the front or surface of; line the edge (of a garment) with a different material; turn so as to face; turn the face in a certain direction; turn so as to expose the face; be opposite; deal with (something unpleasant) head on; present somebody with something, usually to accuse or criticize; oppose, as in hostility or a competition; be oriented in a certain direction, often with respect to another reference point; be opposite to
- Heme - noun a complex red organic pigment containing iron and other atoms to which oxygen binds
- Neck - noun an opening in a garment for the neck of the wearer; a part of the garment near the wearer's neck; the part of an organism that connects the head to the rest of the body; a cut of meat from the neck of an animal; a narrow elongated projecting strip of land; verb kiss, embrace, or fondle with sexual passion
- path - noun a way especially designed for a particular use; an established line of travel or access; a line or route along which something travels or moves; a course of conduct
- China - noun high quality porcelain originally made only in China; a communist nation that covers a vast territory in eastern Asia; the most populous country in the world; dishware made of high quality porcelain; a government on the island of Taiwan established in 1949 by Chiang Kai-shek after the conquest of mainland China by the communists led by Mao Zedong
- mouth - noun the opening of a jar or bottle; the externally visible part of the oral cavity on the face and the system of organs surrounding the opening; the opening through which food is taken in and vocalizations emerge; the point where a stream issues into a larger body of water; an opening that resembles a mouth (as of a cave or a gorge); a person conceived as a consumer of food; an impudent or insolent rejoinder; a spokesperson (as a lawyer); verb articulate silently; form words with the lips only; touch with the mouth; express in speech
- Other - adj. very unusual; different in character or quality from the normal or expected; recently past; not the same one or ones already mentioned or implied; belonging to the distant past
- Smith - noun someone who works metal (especially by hammering it when it is hot and malleable); someone who works at something specified; Scottish economist who advocated private enterprise and free trade (1723-1790); English explorer who helped found the colony at Jamestown, Virginia; was said to have been saved by Pocahontas (1580-1631); religious leader who founded the Mormon Church in 1830 (1805-1844); United States blues singer (1894-1937); United States suffragist who refused to pay taxes until she could vote (1792-1886); United States singer noted for her rendition of patriotic songs (1909-1986); United States sculptor (1906-1965); Rhodesian statesman who declared independence of Zimbabwe from Great Britain (born in 1919)
- type - noun a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; a subdivision of a particular kind of thing; all of the tokens of the same symbol; printed characters; (biology) the taxonomic group whose characteristics are used to define the next higher taxon; a person of a specified kind (usually with many eccentricities); verb identify as belonging to a certain type; write by means of a keyboard with types
- cystic - adj. of or relating to or resembling a cyst; of or relating to a normal cyst (as the gallbladder or urinary bladder)
- Kidney - noun either of two bean-shaped excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine
- Lysine - noun an essential amino acid found in proteins; occurs especially in gelatin and casein
- Pelvic - adj. of or relating to the pelvis
- Ureter - noun either of a pair of thick-walled tubes that carry urine from the kidney to the urinary bladder
- Valine - noun an essential amino acid found in proteins; important for growth in children and nitrogen balance in adults
- absence - noun failure to be present; the state of being absent; the time interval during which something or somebody is away; epilepsy characterized by paroxysmal attacks of brief clouding of consciousness (a possible other abnormalities)
- atresia - noun an abnormal condition in which a normal opening or tube in the body (as the urethra) is closed or absent
- Bladder - noun a bag that fills with air; a distensible membranous sac (usually containing liquid or gas)
- citrate - noun a salt or ester of citric acid; verb cause to form a salt or ester of citric acid
- General - adj. prevailing among and common to the general public; not specialized or limited to one class of things; applying to all or most members of a category or group; of national scope; affecting the entire body; somewhat indefinite; of worldwide scope or applicability; noun a fact about the whole (as opposed to particular); a general officer of the highest rank; the head of a religious order or congregation; verb command as a general
- Glycine - noun genus of Asiatic erect or sprawling herbs: soya bean; the simplest amino acid found in proteins and the principal amino acid in sugar cane
- hepatic - adj. pertaining to or affecting the liver; noun any of numerous small green nonvascular plants of the class Hepaticopsida growing in wet places and resembling green seaweeds or leafy mosses
- Leucine - noun a white crystalline amino acid occurring in proteins that is essential for nutrition; obtained by the hydrolysis of most dietary proteins
- Melanin - noun insoluble pigments that account for the color of e.g. skin and scales and feathers
- pathway - noun a trodden path; a bundle of myelinated nerve fibers following a path through the brain
- Proline - noun an amino acid that is found in many proteins (especially collagen)
- reverse - adj. of the transmission gear causing backward movement in a motor vehicle; reversed (turned backward) in order or nature or effect; directed or moving toward the rear; noun (American football) a running play in which a back running in one direction hands the ball to a back running in the opposite direction; the gears by which the motion of a machine can be reversed; the side of a coin or medal that does not bear the principal design; an unfortunate happening that hinders or impedes; something that is thwarting or frustrating; a relation of direct opposition; turning in the opposite direction; verb change to the contrary; turn inside out or upside down; rule against; annul by recalling or rescinding
- Urethra - noun duct through which urine is discharged in most mammals and which serves as the male genital duct
- Albinism - noun the congenital absence of pigmentation in the eyes and skin and hair
- arginine - noun a bitter tasting amino acid found in proteins and necessary for nutrition; its absence from the diet leads to a reduced production of spermatozoa
- bicuspid - adj. having two cusps or points (especially a molar tooth); noun a tooth having two cusps or points; located between the incisors and the molars
- cortisol - noun an adrenal-cortex hormone (trade names Hydrocortone or Cortef) that is active in carbohydrate and protein metabolism
- Creatine - noun an amino acid that does not occur in proteins but is found in the muscle tissue of vertebrates both in the free form and as phosphocreatine; supplies energy for muscle contraction
- dwarfism - noun a genetic abnormality resulting in short stature
- Genetics - noun the branch of biology that studies heredity and variation in organisms
- hydroxy - adj. being or containing a hydroxyl group
- multiple - adj. having or involving or consisting of more than one part or entity or individual; noun the product of a quantity by an integer
- stenosis - noun abnormal narrowing of a bodily canal or passageway
- Template - noun a model or standard for making comparisons
- Tyrosine - noun an amino acid found in most proteins; a precursor of several hormones
- Abdominal - adj. of or relating to or near the abdomen; noun the muscles of the abdomen
- Anabolism - noun the synthesis in living organisms of more complex substances (e.g., living tissue) from simpler ones together with the storage of energy
- Audiology - noun the measurement of hearing
- bilirubin - noun an orange-yellow pigment in the bile that forms as a product of hemoglobin; excess amounts in the blood produce the yellow appearance observed in jaundice
- Chondroma - noun a common benign tumor of cartilage cells
- cortisone - noun a corticosteroid hormone (trade name Cortone Acetate) normally produced by the adrenal cortex; is converted to hydrocortisone
- Dentistry - noun the branch of medicine dealing with the anatomy and development and diseases of the teeth
- Diaphysis - noun the main (mid) section of a long bone
- Dietetics - noun the scientific study of food preparation and intake
- Epiphysis - noun the end of a long bone; initially separated from the main bone by a layer of cartilage that eventually ossifies so the parts become fused; a small endocrine gland in the brain; situated beneath the back part of the corpus callosum; secretes melatonin
- glutamate - noun a salt or ester of glutamic acid
- glutamine - noun a crystalline amino acid occurring in proteins; important in protein metabolism
- Histidine - noun an essential amino acid found in proteins that is important for the growth and repair of tissue
- Physician - noun a licensed medical practitioner
- Porphyria - noun a genetic abnormality of metabolism causing abdominal pains and mental confusion
- porphyrin - noun any of various pigments distributed widely in living tissues
- Transport - noun an exchange of molecules (and their kinetic energy and momentum) across the boundary between adjacent layers of a fluid or across cell membranes; the commercial enterprise of moving goods and materials; something that serves as a means of transportation; a mechanism that transports magnetic tape across the read/write heads of a tape playback/recorder; a state of being carried away by overwhelming emotion; verb move while supporting, either in a vehicle or in one's hands or on one's body; transport commercially; move something or somebody around; usually over long distances; send from one person or place to another; hold spellbound
- Vestigial - adj. not fully developed in mature animals
- Catabolism - noun breakdown in living organisms of more complex substances into simpler ones together with release of energy
- Coenzyme Q - noun any of several quinones found in living cells and that function as coenzymes that transfer electrons from one molecule to another in cell respiration
- Congenital - adj. present at birth but not necessarily hereditary; acquired during fetal development
- conjugated - adj. of an organic compound; containing two or more double bonds each separated from the other by a single bond; formed by the union of two compounds; joined together especially in a pair or pairs
- deficiency - noun lack of an adequate quantity or number; the state of needing something that is absent or unavailable
- Epispadias - noun a congenital abnormality in males in which the urethra is on the upper surface of the penis
- Isoleucine - noun an essential amino acid found in proteins; isomeric with leucine
- Metaphysis - noun the growing part of a long bone between the diaphysis and the epiphysis
- Methionine - noun a crystalline amino acid containing sulfur; found in most proteins and essential for nutrition
- Ochronosis - noun an accumulation of dark pigment in cartilage and other connective tissue; usually a symptom of alkaptonuria or phenol poisoning
- Pediatrics - noun the branch of medicine concerned with the treatment of infants and children
- Psychiatry - noun the branch of medicine dealing with the diagnosis and treatment of mental disorders
- Psychology - noun the science of mental life
- Tryptophan - noun an amino acid that occurs in proteins; is essential for growth and normal metabolism; a precursor of niacin
- aldosterone - noun a corticosteroid hormone that is secreted by the cortex of the adrenal gland; regulates salt (sodium and potassium) and water balance
- cholesterol - noun an animal sterol that is normally synthesized by the liver; the most abundant steroid in animal tissues
- cytoplasmic - adj. of or relating to cytoplasm
- enchondroma - noun benign slow-growing tumor of cartilaginous cells at the ends of tubular bones (especially in the hands and feet)
- Hypospadias - noun an abnormal condition in males in which the urethra opens on the under surface of the penis
- Social Work - noun any of various services designed to aid the poor and aged and to increase the welfare of children
- Tyrosinemia - noun autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation
- Alkaptonuria - noun a rare recessive metabolic anomaly marked by ochronosis and the presence of alkapton in the urine
- Dextrocardia - noun abnormal condition where the heart is located toward the right side of the chest
- Orthodontics - noun the branch of dentistry dealing with the prevention or correction of irregularities of the teeth
- oxaloacetate - noun a salt or ester of oxalacetic acid
- insufficiency - noun lack of an adequate quantity or number; (pathology) inability of a bodily part or organ to function normally; a lack of competence
- Osteopetrosis - noun an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated
- Phenylalanine - noun an essential amino acid found in proteins and needed for growth of children and for protein metabolism in children and adults; abundant in milk and eggs; it is normally converted to tyrosine in the human body
- regurgitation - noun recall after rote memorization; backflow of blood through a defective heart valve; the reflex act of ejecting the contents of the stomach through the mouth
- Achondroplasia - noun an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism
- Corticosteroid - noun a steroid hormone produced by the adrenal cortex or synthesized; administered as drugs they reduce swelling and decrease the body's immune response
- erythropoietic - adj. of or relating to the formation of red blood cells
- Norepinephrine - noun a catecholamine precursor of epinephrine that is secreted by the adrenal medulla and also released at synapses
- Osteochondroma - noun benign tumor containing both bone and cartilage; usually occurs near the end of a long bone
- osteodystrophy - noun defective bone development; usually attributable to renal disease or to disturbances in calcium and phosphorus metabolism
- Osteosclerosis - noun abnormal hardening or eburnation of bone
- Otolaryngology - noun the medical specialty that deals with diseases of the ear, nose and throat
- straight chain - noun an open chain of atoms with no side chains
- Underdeveloped - adj. (of a photograph) lacking in contrast because it was left in the developer for less than the required time; not yet fully developed; relating to societies in which capital needed to industrialize is in short supply
- urinary system - noun the system that includes all organs involved in reproduction and in the formation and voidance of urine
- Phenylketonuria - noun a genetic disorder of metabolism; lack of the enzyme needed to turn phenylalanine into tyrosine results in an accumulation of phenylalanine in the body fluids which causes various degrees of mental deficiency
- Plastic surgery - noun surgery concerned with therapeutic or cosmetic reformation of tissue
- chondrodystrophy - noun an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism
- Citric acid cycle - noun in all plants and animals: a series of enzymatic reactions in mitochondria involving oxidative metabolism of acetyl compounds to produce high-energy phosphate compounds that are the source of cellular energ
- Tetralogy of Fallot - noun a congenital heart defect producing cyanosis; characterized by four symptoms: pulmonary stenosis and ventricular septal defect and malposition of the aorta over both ventricles and hypertrophy of the right ventricle
- Atrial septal defect - noun an abnormal opening between the left and right atria of the heart
- Essential hypertension - noun persistent and pathological high blood pressure for which no specific cause can be found
- Valvular heart disease - noun heart disease caused by stenosis of the cardiac valves and obstructed blood flow or caused by degeneration and blood regurgitation
- Ventricular septal defect - noun a common congenital heart defect; an abnormal opening in the septum dividing the ventricles allows blood to pass directly from the left to the right ventricle; large openings may cause congestive heart failureition.
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