| CHRPE | congenital hypertrophy of the retinal pigment epithelium |
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| CHS | central hypoventilation syndrome; Chediak-Higashi syndrome; cholinesterase; chondroitin sulfate; com... |
| CIA | chemiluminescent immunoassay; chymotrypsin inhibitor activity; colony-inhibiting activity; congenita... |
| CIBHA | congenital inclusion-body hemolytic anemia |
| CLAH | congenital lipoid adrenal hyperplasia |
| congenital haemolytic jaundice | <haematology> A hereditary disorder that leads to a chronic haemolytic anaemia due to an abnormality in the red blood cell membrane. This disorder is caused by a defective gene. Red cells are resistant to stress and rupture easily. Infants may appear jaundiced and pale. Fatigue, weakness and shortness of breath are other symptoms that may be seen in older patients. The spleen may also be enlarged. Treatment includes splenectomy (removal of the spleen). After this is accomplished the life-span of the red blood cells returns to normal. (27 Sep 1997) |
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| congenital heart block | Atrioventricular block present in utero or at birth and usually of advanced or complete degree. (05 Mar 2000) |
| congenital heart disease | Heart disease that is present from birth. Examples include atrial septal defect, ventricular septal defect, aortic stenosis and tetralogy of Fallot. (27 Sep 1997) |
| congenital hernia of the diaphragm | A condition present at birth where there is abnormal protrusion of abdominal contents upward through a defect in the diaphragm. This condition is treated as a surgical emergency due to interference with the infant's breathing. Smaller, less serious diaphragmatic hernias may also be seen in adults. (27 Sep 1997) |
| congenital hip dislocation | A malformation of the hip joint that is present at birth. Genetic factors likely play a role in this disorder. Features include hip dislocation, asymmetry of leg positions, asymmetric fat folds and diminished movement on the affected side. Some children will exhibit little or no features and must be diagnosed by physical examination of the hip joints. (27 Sep 1997) |
| congenital hip dysplasia | A malformation of the hip joint that is present at birth. Genetic factors likely play a role in this disorder. Features include hip dislocation, asymmetry of leg positions, asymmetric fat folds and diminished movement on the affected side. Some children will exhibit little or no features and must be diagnosed by physical examination of the hip joints. Origin: Gr. Plassein = to form (27 Sep 1997) |
| congenital hydrocele | A collection of fluid in the unobliterated processus vaginalis leading from the abdominal cavity to the investing sac of the testis. (05 Mar 2000) |
| congenital hydrocephalus | Hydrocephalus due to a developmental defect of the brain. Synonym: primary hydrocephalus. (05 Mar 2000) |
| congenital hypoplastic 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 hypothyroidism | Lack of thyroid secretion. See: infantile hypothyroidism. (05 Mar 2000) |
| congenital ichthyosiform erythroderma | A genodermatosis characterised by diffuse chronic erythema and scale formation which may be separated into bullous and nonbullous forms. Synonym: ichthyosiform erythroderma, ichthyosis spinosa, keratoma malignum. (05 Mar 2000) |
| congenital infection: torchs syndrome | <radiology> T Toxoplasma, R Rubella, C Cytomegalic inclusion disease (CID, CMV), H Herpes, S Syphilis, transplacentally acquired, congenital infection, celery-stalk metaphyses, especially long bones, intracranial calcification, decreased growth, vascular stenosis (aorta, pulmonary artery) (12 Dec 1998) |
| congenital insensitivity to pain | <radiology> Autosomal recessive, neuropathic joints, micro- and macrofractures, epiphyseal separation, osteomyelitis (mandible, fingers, toes) Differential diagnosis: congenital insensitivity to pain with anhidrosis (autosomal recessive), hereditary sensory radicular neuropathy (autosomal recessive), congenital sensory neuropathy (autosomal dominant), familial dysautonomia (autosomal recessive), Lesch-Nyhan syndrome (X recessive) (12 Dec 1998) |
| congenital kidney abnormalities | Kidney abnormalities that are present from birth (for example polycystic kidneys). (27 Sep 1997) |
| congenital leukoderma | The absence of pigmentation in the hair, skin and eyes, usually autosomal recessive. Inheritance: autosomal recessive. (27 Sep 1997) |