| CHD | Chediak-Higashi disease; childhood disease; chronic hemodialysis; congenital or congestive heart dis... |
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| CAH | 1) Chronic Active Hepatitis 2) Congenital Adrenal Hyperplasia |
| CEP | Congenital Erythropoetic Porphyria(= Gnther Disease; 선천성 조혈기성 Porphyria |
| CHD | 1) Congenital Heart Disease 2) Common Hepatic Duct |
| ACED | anhydrotic congenital ectodermal dysplasia |
| familial goiter | A group of heritable thyroid disorders in which goiter is commonly apparent first during childhood; often associated with skeletal and/or mental retardation, and with other signs of hypothyroidism that may develop with age. Various types of familial goiter have been identified: 1) iodide transport defect, in which the gland is unable to concentrate iodide; 2) organification defect, in which the iodination of tyrosine is defective; 3) Pendred's syndrome; 4) coupling defect, in which cretinism results from defective coupling of iodotyrosines to form iodothyronines; 5) iodotyrosine deiodinase defect, in which deiodination of iodotyrosine is defective, considerable glandular loss of these hormonal precursors occurs, and cretinism may be present; 6) plasma iodoprotein disorder, in which an abnormal iodinated serum protein that is insoluble in acidic butanol is present; 7) hereditary hyperthyroidism. (05 Mar 2000) |
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| fibrous goiter | A firm hyperplasia of the thyroid and its capsule. (05 Mar 2000) |
| follicular goiter | A form of goiter in which there is a great increase in the follicles with proliferation of the epithelium. Synonym: follicular goiter. (05 Mar 2000) |
| lingual goiter | A tumour of thyroid tissue involving the embryonic rudiment at the base of the tongue. (05 Mar 2000) |
| lymphadenoid goiter | <endocrinology> Inflammation of the thyroid gland without the formation of pus. Noninfectious nonbacterial thyroid inflammation. (27 Sep 1997) |
| adrenal hyperplasia, congenital | A group of inherited disorders of adrenal steroidogenesis, the physical expression of which varies with the sex of the patient, the severity of the congenital enzyme defect, and the age at which the defect makes its presence felt. The most common form, the simple virilizing form, is due to a 21-hydroxylase deficiency. There is also a salt-losing form (a more complete 21-hydroxylase deficiency), a hypertensive form (11-hydroxylase deficiency), a 17-hydroxylase deficiency form, a desmolase deficiency form, and a 3-beta-hydroxysteroid deficiency form. (12 Dec 1998) |
| anaemia, dyserythropoietic, congenital | A familial disorder characterised by anaemia with multinuclear erythroblasts, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors. Type II is the most common of the 3 types of congenital dyserythropoietic anaemia; it is often referred to as hempas, based on the hereditary erythroblast multinuclearity with positive acidified serum test. (12 Dec 1998) |
| anaemia, haemolytic, congenital | Haemolytic anaemia due to various intrinsic defects of the erythrocyte. (12 Dec 1998) |
| anaemia, haemolytic, congenital nonspherocytic | Any one of a group of congenital haemolytic anaemias in which there is no abnormal haemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated. (12 Dec 1998) |
| bovine congenital ataxia | An autosomal recessive ataxia seen in several European breeds of cattle. (05 Mar 2000) |
| bullous congenital ichthyosiform erythroderma | Diffusely red, eroded skin at birth, with subsequent scaling, tending to improve in later life, characterised by generalised epidermolytic hyperkeratosis and autosomal dominant inheritance. See: epidermolytic hyperkeratosis. Synonym: generalised epidermolytic hyperkeratosis, ichthyismus hystrix, ichthyosis hystrix. (05 Mar 2000) |
| 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) |