| APCD | acquired prothrombin complex deficiency [syndrome]; adult polycystic kidney disease |
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| ATD | Alzheimer-type dementia; androstatrienedione; anthropomorphic test dummy; antithyroid drug; aqueous ... |
| CGKD | complex glycerol kinase deficiency |
| CIDS | cellular immunity deficiency syndrome; circular intensity differential scattering; continuous insuli... |
| CuD | copper deficiency |
| disease, congenital heart | A birth defect of the heart or great blood vessels (like the aorta). (12 Dec 1998) |
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| double congenital athetosis | A type of cerebral palsy manifested predominantly as bilateral involuntary movements, beginning at about the age of 3 years, and preceded by generalised hypotonia and delayed motor development. Due to various causes, including kernicterus and birth hypoxia. Synonym: congenital choreoathetosis, double congenital athetosis, Vogt syndrome. (05 Mar 2000) |
| ichthyosiform erythroderma, congenital | Designation for several severe forms of ichthyosis, present at birth, that are characterised by hyperkeratotic scaling. Infants may be born encased in a collodion membrane which begins shedding within 24 hours. This is followed in about two weeks by persistent generalised scaling. The forms include bullous (hyperkeratosis, epidermolytic), non-bullous (ichthyosis, lamellar), wet type, and dry type. (12 Dec 1998) |
| toxoplasmosis, congenital | Congenital infection with toxoplasma gondii characterised by lesions of the central nervous system. (12 Dec 1998) |
| foot deformities, congenital | Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth. (12 Dec 1998) |
| limb deformities, congenital | Congenital structural deformities of the upper and lower extremities collectively or unspecified. (12 Dec 1998) |
| abdominal muscle deficiency syndrome | <syndrome> Congenital absence (partial or complete) of abdominal muscles, in which the outline of the intestines is visible through the protruding abdominal wall; in males, genitourinary anomalies (urinary tract dilation and cryptorchidism) are also found; genetics unclear. (05 Mar 2000) |
| alpha-1 antitrypsin deficiency | <chest medicine> Deficiency of the protease inhibitor alpha-1 antitrypsin, leads primarily to degradation of elastin of the alveolar walls, as well as other structural proteins of a variety of tissues. The lack of this protein leads to damage of various organs, but mainly to the lung and liver. symptoms may become apparent at a very early age or in adulthood, manifesting either as shortness of breath or liver related symptoms (jaundice, fatigue, fluid in the abdomen, mental changes, or gastrointestinal bleeding). There are several options for treatment of the lung disease, including replacement of the missing protein. Treatment of the liver disease is a well-timed liver transplant (12 Dec 1998) |
| alpha-1-proteinase deficiency | Absence of a serum proteinase inhibitor that may cause nodular non-suppurative panniculitis. (05 Mar 2000) |
| alpha-antitrypsin deficiency | <enzyme> A specific enzyme (alpha 1 antitrypsinase) that when absent genetically can result in panacinar emphysema (lung disease) and liver disease. There is no specific treatment for this condition other than supportive care for the liver and lung complications. Medications such as alpha-1proteinase inhibitor is given regularly to these patients. Incidence: approximately 1 in 10,000. (02 Jan 1998) |
| anaemia, iron deficiency | Deficiency of iron results in anaemia because iron is necessary to make haemoglobin, the key molecule in red blood cells responsible for the transport of oxygen. In iron deficiency anaemia, the red cells are unusally small (microcytic) and pale (hypochromic). Characteristic features of iron deficiency anaemia in children include failure to thrive (grow) and increased infections. The treatment of iron deficiency anaemia, whether it be in children or adults, is with iron and iron-containing foods. Food sources of iron include meat, poultry, eggs, vegetables and cereals (especially those fortified with iron). According to the National Academy of Sciences, the Recommended Dietary Allowances of iron are 15 milligrams per day for women and 10 milligrams per day for men. Anaemia characterised by low or absent iron stores, low serum iron concentration, elevated free erythrocyte porphorin, low transferrin saturation, elevated transferrin, low serum ferritin, low haemoglobin concentration or haematocrit, and hypochromic microcytic red blood cells. Symptoms may include pallor, angular stomatitis and other oral lesions, gastrointestinal complaints, retinal haemorrhages and exudates, and thinning and brittleness of the nails. Among the causes of iron-deficiency anaemia are inadequate iron intake, impaired iron absorption, increased blood loss and increased requirements such as infancy, pregnancy, and lactation. (12 Dec 1998) |
| antibody deficiency disease | <syndrome> Any of a group of disorders associated with a defective antibody production due to defects in the B-type lymphocyte system or in T-type lymphocytes; chief manifestation is an increased susceptibility to infection by various microorganisms. See: agammaglobulinaemia, hypogammaglobulinaemia, immunodeficiency. Synonym: antibody deficiency disease. (05 Mar 2000) |
| antibody deficiency syndrome | <syndrome> Any of a group of disorders associated with a defective antibody production due to defects in the B-type lymphocyte system or in T-type lymphocytes; chief manifestation is an increased susceptibility to infection by various microorganisms. See: agammaglobulinaemia, hypogammaglobulinaemia, immunodeficiency. Synonym: antibody deficiency disease. (05 Mar 2000) |
| antitrypsin deficiency | Deficiency of a1-antitrypsin, a glycoprotein of the postalbumin region of human serum. Many forms are known which may be moderate (40 to 60% of normal activity) or severe (less than 10% of normal), all autosomal dominant; the severe form is often associated with familial emphysema or hepatic cirrhosis. (05 Mar 2000) |
| arch length deficiency | The difference between the available circumference of the dental arch and that required to accommodate the succedaneous teeth in proper alignment. (05 Mar 2000) |