| RL | radial line; radiation laboratory; reduction level; renal dysplasia-limb defects [syndrome]; resisti... |
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| short-FRAME | short stature-facial anomalies-Rieger anomaly-midline anomalies-enamel defects [syndrome] |
| VACTERL | vertebral abnormalities, anal atresia, cardiac abnormalities, tracheoesophageal fistula and/or esoph... |
| VATER | vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia |
| ZD | zero defects; zero discharge; zinc deficiency |
| congenital methemoglobinaemia | Methemoglobinaemia due to formation of any one of a group of abnormal a chain or b chain haemoglobins collectively known as haemoglobin M. Slate-gray cyanosis occurs in early infancy, without pulmonary or cardiac disease, and is resistant to ascorbic acid or methylene blue therapy; autosomal dominant inheritance, methemoglobinaemia due to deficiency of cytochrome b5 reductaseor methemoglobin reductase, the enzyme responsible for reduction of intraerythrocyte methemoglobin; cyanosis is improved by ascorbic acid or methylene blue; autosomal recessive inheritance, one case of methemoglobinaemia has been reported that apparently is due to a deficiency of cytochrome b5. Synonym: hereditary methemoglobinaemia, hereditary methemoglobinaemic cyanosis, primary methemoglobinaemia. (05 Mar 2000) |
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| congenital myxoedema | Stunted body growth and mental development appearing in the first years of life resulting the inappropriate development of the thymus gland or inadequate maternal intake of iodine during gestation. (27 Sep 1997) |
| congenital nevus | A melanocytic nevus that is visible at birth, is often larger than an acquired nevus, and more frequently involves deeper structures. (05 Mar 2000) |
| congenital nonregenerative anaemia | Congenital nonregenerative, familial hypoplastic, or pure red cell anaemia; erythrogenesis imperfecta; Diamond-Blackfan syndrome; autosomal recessive normocytic normochromic anaemia resulting from congenital hypoplasia of the bone marrow, which is grossly deficient in erythroid precursors while other elements are normal; anaemia is progressive and severe, but leukocyte and platelet counts are normal or slightly reduced; survival of transfused erythrocytes is normal; minor congenital anomalies are found in some patients. Synonym: congenital nonregenerative anaemia, Diamond-Blackfan anaemia, Diamond-Blackfan syndrome, erythrogenesis imperfecta, familial hypoplastic anaemia, pure red cell anaemia. (05 Mar 2000) |
| congenital nystagmus | Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth, inherited nystagmus, usually X-linked, without associated neurologic lesions and nonprogressive; all three patterns of mendelian inheritance may occur: autosomal dominant, autosomal recessive,, the nystagmus associated with albinism, achromatopsia, and hypoplasia of the macula. (05 Mar 2000) |
| congenital pancytopenia | <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 paramyotonia | Paramyotonia congenita, a nonprogressive myotonia induced by exposure of muscles to cold; there are episodes of intermittent flaccid paralysis, but no atrophy or hypertrophy of muscles; autosomal dominant inheritance. There is a variant autosomal dominant form in which cold is not a provoking factor. Synonym: Eulenburg's disease. (05 Mar 2000) |
| congenital pneumonia | Pneumonia in the newborn, infection being contracted prenatally. (05 Mar 2000) |
| congenital protein C or s deficiency | This inherited disorder of blood coagulation is characterised by a deficiency of vitamin K dependent plasma proteins (C and s) that are naturally occurring anticoagulants. This disorder results in an increased risk of blood clot formation within the circulatory system. (27 Sep 1997) |
| congenital pulmonary arteriovenous fistula | Abnormal congenital communication between pulmonary arteries and veins usually found in the lung parenchyma. (05 Mar 2000) |
| congenital pyloric stenosis | <radiology> Not seen until 3 weeks, projectile vomiting, palpable olive in RUQ/epigastrium (12 Dec 1998) |
| congenital renal cysts | <radiology> Congenital solitary cyst, multilocular cyst, multicystic disease (renal dysplasia), polycystic disease, autosomal-recessive (childhood) form, autosomal-dominant (adult) form, medullary sponge kidney, medulary cystic disease see also: Potter syndrome (12 Dec 1998) |
| congenital renal osteodystrophy | <radiology> Tubular form of renal osteodystrophy, vitamin D-resistant rickets, Fanconi syndrome, renal tubular acidosis (12 Dec 1998) |
| congenital rubella syndrome | <syndrome> Foetal infection with rubella virus during the first trimester of pregnancy resulting in a series of congenital abnormalities including heart disease, deafness, and blindness. (05 Mar 2000) |
| congenital sebaceous hyperplasia | Misnomer for nevus sebaceus. (05 Mar 2000) |