| partial endocardial cushion defect | <radiology> Incomplete endocardial cushion defect components: ostium primum atrial septal defect, cleft in anterior mitral valve findings: right AV valve is usually normal, with or without mitral insufficiency, communication between LA_RA or LV-RA, occasionally LV-RV Cf: complete endocardial cushion defect (12 Dec 1998) |
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| relative afferent pupillary defect | An asymmetry of the pupillomotor input between the two eyes; tested by alternating the light from one eye to the other and comparing the direct light reactions. (05 Mar 2000) |
| metaphysial fibrous cortical defect | A small (less than 2 to 3 cm in diameter) fibrous cortical d. (05 Mar 2000) |
| complete endocardial cushion defect | <radiology> Arteriovenous canal components: low atrial septal defect (ostium primum), high VSD, cleft anterior leaflet of mitral valve, cleft septal leaflet of tricuspid valve, one AV valve common to RV and LV with 5-6 leaflets findings: 4-chamber enlargement (R greater than L), mitral insufficiency, associated with congestive heart failure and Eisenmenger syndrome, gooseneck deformity on angiogram (elongation and narrowing of the LV outflow tract during diastole) see also: endocardial cushion defect, partial endocardial cushion defect (12 Dec 1998) |
| congenital defect | A birth defect. (12 Dec 1998) |
| congenital ectodermal defect | 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. Synonym: congenital ectodermal dysplasia. (05 Mar 2000) |
| coupling defect | See: familial goiter. (05 Mar 2000) |
| postinfarction ventricular septal defect | A defect developed in the ventricular septum resulting from rupture of an acute myocardial infarction. (05 Mar 2000) |
| salt-losing defect | Renal tubular abnormality causing loss of sodium in the urine. (05 Mar 2000) |
| septal defect, atrial | A hole in the septum, the wall, between the atria, the upper chambers of the heart. Commonly called an asd. Asds are a major class of heart deformity that is present at birth (congenital cardiac malformation). (12 Dec 1998) |
| septal defect, ventricular | A hole in the interventricular septum, the wall between the ventricles, the lower chambers of the heart. Commonly called a vsd. Vsds are a common class of heart deformity that is present at birth (congenital cardiac malformation). (12 Dec 1998) |
| neural tube defect | <neurology, paediatrics> Abnormal development during embryonic life of the neural tube producing congenital malformations of the nervous system due to closure failure of the neural tube. The structure gives rise to the central nervous system (the brain and spinal cord), and failure to close results in anencephaly (absence of the cranial vault and absence of most or all of the cerebral hemispheres of the brain) and spina bifida or meningomyelocele (open spina with exposure and protusion of the spinal cord). The risk of neuroal tube defects can be decreased by the mother taking folic acid during pregnancy. (04 Jul 1999) |
| defect | 1. Want or absence of something necessary for completeness or perfection; deficiency; opposed to superfluity. "Errors have been corrected, and defects supplied." (Davies) 2. Failing; fault; imperfection, whether physical or moral; blemish; as, a defect in the ear or eye; a defect in timber or iron; a defect of memory or judgment. "Trust not yourself; but, your defects to know, Make use of every friend any every foe." (Pope) "Among boys little tenderness is shown to personal defects." (Macaulay) Synonym: Deficiency, imperfection, blemish. See Fault. Origin: L. Defectus, fr. Deficere, defectum, to desert, fail, be wanting; de- + facere = to make, do. See Fact, Feat, and cf. Deficit. Source: Websters Dictionary (01 Mar 1998) |
| defect, atrial septal | A hole in the septum, the wall, between the atria, the upper chambers of the heart. Commonly called an ASD. ASDs are a major class of congenital cardiac malformation. (12 Dec 1998) |
| defect, enzyme | An abnormality in the protein (enzyme) important in catalyzing a normal biochemical reaction in the body. Disorders result from a deficiency (or functional abnormality) of an enzyme. Archibald Garrod in 1902 was the first to attribute a disease to an enzyme defect: an inborn error of metabolism. Today, newborns are routinely screened for certain enzyme defects such as phenylketonuria (PKU) and galactosaemia, an error in the handling (metabolism) of the sugar galactose. (12 Dec 1998) |