| DTD | diastrophic dysplasia; document type definition |
|---|---|
| FCD | feces collection device; fibrocystic disease; fibrocystic dysplasia; focal cytoplasmic degradation |
| FD | familial dysautonomia; family doctor; fan douche; fatal dose; fetal danger; fibrin derivative; fibro... |
| FDM | fetus of diabetic mother; fibrous dysplasia of the mandible |
| FFDD | focal facial dermal dysplasia |
| carbohydrate-deficient glycoprotein syndrome | <syndrome> An inborn error of carbohydrate metabolism manifesting as a genetic multisystem disorder of autosomal recessive inheritance. A predominant feature is severe central and peripheral nervous system involvement resulting in psychomotor retardation, seizures, cerebellar ataxia, and other symptoms which include growth retardation, retinitis pigmentosa, hypothyroidism, and fatty liver. The notable biochemical feature is the deficiency of a large number of blood glycoproteins and decreased activities of various blood coagulation factors. (12 Dec 1998) |
|---|---|
| carbonic anhydrase II deficiency syndrome | <syndrome> An inherited deficiency of carbonic anhydrase II that results in osteopetrosis and metabolic acidosis. Synonym: osteopetrosis with renal tubular acidosis. (05 Mar 2000) |
| carcinoid syndrome | <oncology, syndrome> A constellation of symptoms associated with a serotonin-secreting neoplasm known as carcinoid tumour. These tumours may grow anywhere in the gastrointestinal tract (and in the lungs) with approximately 90% in the appendix. The remainder occur in the ileum, stomach, colon or rectum. Symptoms include flushing, rapid pulse, facial swelling, swelling around the eyes, low blood pressure, abdominal pain, weight loss and diarrhoea. (19 Jan 1998) |
| cardiofacial syndrome | <syndrome> Transient or persistent unilateral partial lower facial paresis accompanying some congenital heart disease. A group of syndromes characterised by congenital cardiovascular, bone, soft tissue, and facial abnormalities. Examples include Rubinstein-Taybi syndrome, Noonan's syndrome and Williams' syndrome. Synonym: Williams' syndrome. (05 Mar 2000) |
| carney syndrome | <radiology> Association of: pheochromocytoma, paraganglioma (functioning), chondroma (mult. Chondromatous hamartomas?) (12 Dec 1998) |
| Caroli's syndrome | <syndrome> Congenital malformation of the bile ducts leading to formation of multifocal dilatations and cysts. (05 Mar 2000) |
| Gaisbock's syndrome | Polycythemia associated with hypertension, but without splenomegaly. Synonym: Gaisbock's syndrome. (05 Mar 2000) |
| VACTERL syndrome | <syndrome> Abnormalities of vertebrae, anus, cardiovascular tree, trachea, oesophagus, renal system, and limb buds associated with administration of sex steroids during early pregnancy. (05 Mar 2000) |
| pacemaker syndrome | <syndrome> The occurrence of symptoms relating to the loss of atrial-ventricular synchrony in ventricularly paced patients, or symptoms caused by inadequate timing of atrial and ventricular contractions in paced patients. (05 Mar 2000) |
| Macleod's syndrome | A state in which the roentgenographic density of one lung (or one lobe) is markedly less than the density of the other(s) because of the presence of air trapped during expiration. Synonym: Macleod's syndrome, Swyer-James syndrome. (05 Mar 2000) |
| pachydermoperiostosis syndrome | <radiology> Idiopathic, familial hypertrophic osteoarthropathy, boys at puberty, blacks more than whites, familial, periosteal reaction, thick skin: extremities and forehead, hyperhidrosis, relatively pain free (12 Dec 1998) |
| radial aplasia-thrombocytopenia syndrome | <syndrome> Aplasia (absence) of the radius (the long bone on the thumb-side of the forearm) and thrombocytopenia (low blood platelets) are key features characterizing this syndrome. There is phocomelia (flipper-limb) with the thumbs always present. The fibula (the smaller bone in the lower leg) is often absent. The risk of bleeding from too few platelets is high in early infancy but lessens with age. The condition is inherited in an autosomal recessive trait with one gene (on a non-sex chromosome) coming from each parent to the child affected with the disease. Alternative names include thrombocytopenia-absent radius syndrome, tar syndrome, and tetraphocomelia-thrombocytopenia syndrome. (12 Dec 1998) |
| Paget-von Schrotter syndrome | <syndrome> Stress thrombosis or spontaneous thrombosis of the subclavian or axillary vein; a thoracic-outlet syndrome. Synonym: effort-induced thrombosis. (05 Mar 2000) |
| radicular syndrome | A group of symptoms resulting from any interference with the intradural portion of one or more spinal nerve roots; the chief symptoms are pain, paresthesia, hypesthesia, or hyperesthesia, motor, trophic, and reflex disturbances. (05 Mar 2000) |
| painful-bruising syndrome | <syndrome> An intense inflammatory reaction to slight extravasation of blood, due to an allergic sensitivity to red blood cells; more commonly seen in adult women. (05 Mar 2000) |