| pain insensitivity, congenital | Absence of sensibility to pain or inability to feel pain. The condition is present at birth. (12 Dec 1998) |
|---|---|
| rubella syndrome, congenital | Transplacental infection of the foetus with rubella usually in the first trimester of pregnancy, as a consequence of maternal infection, resulting in various developmental abnormalities in the newborn infant. They include cardiac and ocular lesions, deafness, microcephaly, mental retardation, and generalised growth retardation. (12 Dec 1998) |
| congenital | <embryology> Existing at and usually before, birth, referring to conditions that are present at birth, regardless of their causation. Origin: L. Congenitus = born together (18 Nov 1997) |
| congenital absence of pulmonary valve | <radiology> BIG central pulmonary arteries, big RV (12 Dec 1998) |
| congenital adrenal hyperplasia | <endocrinology> A genetic disorder present at birth characterised by a deficiency of the hormones aldosterone and cortisol and an overproduction of male sex hormones (androgens). In males this may manifest as enlarged penis, small testes and early development of masculine characteristics. In females features include ambiguous genitalia, failure to menstruate, deep voice and excessive hair. Origin: Gr. Plassein = to form (27 Sep 1997) |
| congenital afibrinogenaemia | <biochemistry> A below normal level of fibrinogen in the plasma. Fibrinogen (factor II) is one of the proteins involved in the formation of a blood clot. This condition may be congenital or acquired (for example disseminated intravascular coagulation, multiple blood transfusions). Origin: Gr. Haima = blood (27 Sep 1997) |
| congenital amputation | Amputation produced in utero; attributed to the pressure of constricting bands (amniotic); autosomal recessive inheritance. Synonym: amniotic amputation, amputation, birth amputation, intrauterine amputation, spontaneous amputation. (05 Mar 2000) |
| congenital anaemia | <haematology> A condition which develops in the foetus due to an incompatibility between the mother's blood type (RH factor) and the baby's. Maternal antibodies, which enter the foetal circulation during delivery attack the baby's red blood cells leading to haemolysis (rupture of the cells). Symptoms include an infant with an enlarged liver and spleen, swelling, jaundice and anaemia. (27 Sep 1997) |
| congenital ankyloblepharon | Congenital adhesion of the upper and lower eyelid by bands of tissue. Synonym: filiform adnatum. Origin: ankylo-+ G. Blepharon, eyelid (05 Mar 2000) |
| congenital antithrombin III deficiency | Antithrombin III is a protein which stimulates the removal of blood clots in the bloodstream. Small blood clots form normally within the bloodstream, but are normally dissolved via the bodys antithrombin III. The deficiency of antithrombin III will result in an increased risk for blood clot formation causing organ damage. This is an inherited as a autosomal dominant trait. Inheritance: autosomal dominant. (27 Sep 1997) |
| congenital aplasia of thymus | diGeorge syndrome |
| congenital aplastic anaemia | <haematology> A rare inherited type of aplastic anaemia which carries an increased risk to the patient of developing leukaemia. May be treated by bone marrow transplant. Origin: Gr. Haima = blood (13 Nov 1997) |
| congenital atonic pseudoparalysis | Atonic pseudoparalysis of congenital origin (neither familial nor hereditary), observed especially in infants and characterised by absences of muscular tone only in muscles innervated by the spinal nerves. Synonym: congenital atonic pseudoparalysis, myatonia congenita, Oppenheim's disease, Oppenheim's syndrome. An indefinite term for a number of congenital neuromuscular disorders that cause generalised myotonia in young children, and that have a benign course (static or regressive). (05 Mar 2000) |
| congenital baldness | Absence of all hair at birth, associated with psychomotor epilepsy; autosomal dominant inheritance. Synonym: congenital baldness, hypotrichiasis. (05 Mar 2000) |
| congenital bronchiectasis | Persistent and progressive dilation of bronchi or bronchioles as a consequence of inflammatory disease (lung infections), obstruction (tumour) or congenital abnormality (for example cystic fibrosis). Although rarely congenital, it is most often an acquired condition in childhood. (27 Sep 1997) |