| CGKD | complex glycerol kinase deficiency |
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| CIDS | cellular immunity deficiency syndrome; circular intensity differential scattering; continuous insuli... |
| CLD | chloride diarrhea; chronic liver disease; chronic lung disease; congenital limb deficiency; crystal ... |
| CMD | campomelic dysplasia; camptomelic dwarfism; cartilage matrix deficiency; chief medical director; chi... |
| CuD | copper deficiency |
| factor v deficiency | An inherited disorder that results in abnormal blood clotting due to the deficiency of factor V, one of 20 plasma proteins responsible for the maintenance of normal blood clotting. Symptoms include excessive bleeding, bleeding gums, nosebleeds, easy bruising, excessive menstrual bleeding and bleeding into muscle tissue (haematoma) or a joint space (haemarthrosis). Treatment includes the infusion of fresh frozen plasma to restore deficient factor V. (27 Sep 1997) |
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| factor vii deficiency | An inherited disorder that causes abnormal blood clotting due to the congenital absence of one of the 20 different plasma proteins involved in the coagulation process. Symptoms include bleeding of the gums, nosebleeds, easy bruising, bleeding in muscles or joints and excessive menstrual bleeding. Treatment includes the administration of plasma concentrates of factor VII (extrinsic factor). (27 Sep 1997) |
| factor viii deficiency | A sex-linked genetic disease affecting males that results from a deficiency of clotting factor VIII, a protein factor that is required for normal blood coagulation. Symptoms include easy bruising, bleeding gums, nosebleeds and bleeding into muscle tissue (haematoma) or a joint space (haemarthrosis). Treatment includes the infusion of factor VIII concentrate intravenously to restore this essential factor and normalize blood coagulation. Inheritance: sex-linked. (27 Sep 1997) |
| factor x deficiency | Blood coagulation disorder usually inherited as an autosomal recessive trait, though it can be acquired. It is characterised by defective activity in both the intrinsic and extrinsic pathways, impaired thromboplastin time, and impaired prothrombin consumption. (12 Dec 1998) |
| factor xi deficiency | A deficiency of blood coagulation factor xi (known as plasma thromboplastin antecedent or pta or antihemophilic factor c) resulting in a systemic blood-clotting defect called haemophilia c or rosenthal's syndrome, that may resemble classical haemophilia. (12 Dec 1998) |
| factor xii deficiency | A deficiency of a specific blood clotting factor (XII) that may be genetic or acquired. Administration of heparin or severe liver disease may result in factor XII (Hageman factor) deficiency. There are usually no symptoms associated with this deficiency, but there may be symptoms of mild blood loss in some cases. Treatment is generally unnecessary. Individuals should be cautioned against the use of medications (for example aspirin, warfarin, heparin) with anticoagulant activity, due to risk of exaggerated effects. (27 Sep 1997) |
| factor xiii deficiency | A deficiency of blood coagulation factor xiii or fibrin stabilizing factor (fsf) which enables fibrin to form a firm blood clot. Deficiency of this factor produces a clinical haemorrhagic diathesis. (12 Dec 1998) |
| yang deficiency | In the yin-yang system of philosophy and medicine, a lack of vital energy (called yangxu in chinese). It manifests itself in various systemic and organic diseases. (12 Dec 1998) |
| familial high density lipoprotein deficiency | Familial high {density lipoprotein deficiency}; a heritable disorder of lipid metabolism characterised by almost complete absence from plasma of high density lipoproteins, and by storage of cholesterol esters in foam cells, tonsillar enlargement, an orange or yellow-gray colour of the pharyngeal and rectal mucosa, hepatosplenomegaly, lymph node enlargement, corneal opacity, and peripheral neuropathy; autosomal recessive inheritance. Synonym: familial high {density lipoprotein deficiency}, Tangier disease. Origin: G. An-, priv., + alpha, a, + lipoprotein + -aemia, blood (05 Mar 2000) |
| yin deficiency | In the yin-yang system of philosophy and medicine, an insufficiency of body fluid (called yinxu), manifesting often as irritability, thirst, constipation, etc.. (12 Dec 1998) |
| familial lipoprotein lipase deficiency | An rare inherited disorder where there is a deficiency of an enzyme (lipoprotein lipase) which breaks down fat molecules, causing the accumulation of fats or lipoproteins in the blood. Symptoms in infancy include abdominal pain (appears as if its colic), failure to thrive and skin lesions (xanthomas). (27 Sep 1997) |
| zinc deficiency | : Deficiency of zinc is associated with short stature, anaemia, increased pigmentation of skin (hyperpigmentation), enlarged liver and spleen (hepatosplenomegaly), impaired gonadal function (hypogonadism), impaired wound healing, and immune deficiency. (for a genetic disorder that impairs zinc uptake, please see acrodermatitis enteropathica). According to the national academy of sciences, the recommended dietary allowances of zinc are 12 milligrams per day for women and 10 milligrams per day for men. Food sources of zinc include meat including liver, eggs, seafood, nuts and cereal. (12 Dec 1998) |
| zinc deficiency dermatitis and diarrhoea | A genetic disease called acrodermatitis enteropathica is characterised by the simultaneous occurrence of skin inflammation (dermatitis) and diarrhoea. The skin on the cheeks, elbows and knees and tissue about the mouth and anus are inflammed. There is also balding of the scalp, eyebrows and lashes, delayed wound healing and recurrent bacterial and fungal infections due to immune deficiency. The key laboratory finding is an abnormally low blood zinc level reflecting impaired zinc uptake. Oral treatment with zinc is curative. (12 Dec 1998) |
| 17-hydroxylase deficiency syndrome | <syndrome> Congenital deficiency of adrenocortical, and possibly ovarian, steroid C-17a hydroxylase; the resulting excessive secretion of corticosterone and deoxycorticosterone produces hypertension and hypokalaemic alkalosis; absence of aldosterone secretion in such patients may indicate a multiple enzymic deficiency. (05 Mar 2000) |
| lactase deficiency | An intolerance to milk and dairy products due to a deficiency of lactase in the intestine. Lactase is a enzyme which breaks down milk sugar or lactose. This condition is common in adults and may affect as many as 70-90% of Asians, African Americans, Native Americans and Mediterranean populations. This condition may also develop as the result of an intestinal disease such as celiac sprue. Symptoms include abdominal cramps, bloating, nausea, weight loss and diarrhoea. Treatment involves removing milk products from the diet. For infant's see Lactofree or ProSobee. (27 Sep 1997) |