defect (de´fekt)

An imperfection, malformation, dysfunction, or absence; an attribute of quality, in contrast with deficiency, which is an attribute of quantity. [L. deficio, pp. -fectus, to fail, to lack]
aortic septal d. , aorticopulmonary septal d. a small congenital opening between the aorta and pulmonary artery about 1 cm above the semilunar valves, e.g., aorticopulmonary window.aorticopulmonary window;
atrial septal d. a congenital d. in the septum between the atria of the heart, due to failure of the foramen primum or secundum to close normally; may involve atrioventricular canal cushions; occasionally there is strong evidence of autosomal dominant inheritance [MIM*108800]. In varying degree, it is also a common feature of the autosomal recessive Ellis-van Creveld syndrome [MIM*225500] and the autosomal dominant Holt-Oram syndrome [MIM*142900].
atrial ventricular canal d. a d. caused by deficient or absent septal tissue immediately above and below the normal level of the atrioventricular valves, including the region normally occupied by the A-V septum in hearts with two ventricles. The A-V valves are abnormal to a varying degree.
birth d. d. present at birth; sometimes referred to as congenital d.
congenital ectodermal d. incomplete development of the epidermis and skin appendages; the skin is smooth and hairless, the facies abnormal, and the teeth and nails may be affected; sweating may be deficient.congenital ectodermal dysplasia;
coupling d. See familial goiter.
Eisenmenger's d. Eisenmenger's complex
endocardial cushion d. persistent atrioventricular canal
fibrous cortical d. a common 1 to 3 cm d. in the cortex of a bone, most commonly the lower femoral shaft of a child, filled with fibrous tissue. Nonosteogenic or nonossifying fibroma by convention refers to lesions greater than 3 cm in diameter. See also nonossifying fibroma.nonosteogenic fibroma;
filling d. displacement of contrast medium by a space-occupying lesion in a radiographic study of a contrast-filled hollow viscus, such as a polyp on a barium enema; also applied to defects in the otherwise uniform distribution of radionuclide in an organ, such as a metastasis in the liver on a 99mTc-sulfur colloid scan.
Gerbode d. a defect in the interventricular portion of the membranous septum, associated with a communication between the right ventricle and the right atrium through an abnormality in the tricuspid valve.
iodide transport d. See familial goiter.
iodotyrosine deiodinase d. See familial goiter.
luteal phase d. a condition characterized by inadequate secretion of progesterone during the luteal phase of the menstrual cycle, with resultant sterility; subnormal luteal function commonly attributed to abnormal pituitary gonadotropin secretion.luteal phase deficiency;
metaphysial fibrous cortical d. a small (less than 2 to 3 cm in diameter) fibrous cortical d.
organification d. See familial goiter.
osteoporotic marrow d. (os´te-o-po-ro´tik) focal osteoporotic bone marrow d. of the jaw; a focal radiolucent d. composed of normal marrow.
postinfarction ventricular septal d. a d. developed in the ventricular septum resulting from rupture of an acute myocardial infarction.
relative afferent pupillary d. See relative afferent pupillary defect.
salt-losing d. renal tubular abnormality causing loss of sodium in the urine.
ventricular septal d. a congenital d. in the septum (membranous or muscular) between the cardiac ventricles, usually resulting from failure of the spiral septum to close the interventricular foramen.


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