| SCIDX | severe combined immunodeficiency disease, X-linked |
|---|---|
| SDC | serum digoxin concentration; Smith delay compensator; sodium deoxycholate; subacute combined degener... |
| XSCID | X-linked severe combined immunodeficiency [syndrome] |
| CCRT | Combined chemotherapy and radiation therapy |
| FAC | Familial Amyloid Cardiomyopathy |
| familial nephrosis | The nephrotic syndrome appearing in sibs in infancy, without nerve deafness. (05 Mar 2000) |
|---|---|
| familial neuroviscerolipidosis | infantile, generalised GM1 gangliosidosis |
| familial nonhaemolytic nonobstructive jaundice | An inherited disorder that affects the way bilirubin in handled by the liver. Thought to be due to an inborn error of bilirubin metabolism. Symptoms include mild jaundice, weakness, fatigue, nausea and abdominal pain. (27 Sep 1997) |
| familial nonhemolytic jaundice | Mild jaundice due to increased amounts of unconjugated bilirubin in the plasma without evidence of liver damage, biliary obstruction, or haemolysis; thought to be due to an inborn error of metabolism in which the excretion of bilirubin by the liver is defective, ascribed to decreased conjugation of bilirubin as a glucuronide or impaired uptake of hepatic bilirubin. Synonym: benign familial icterus, constitutional hepatic dysfunction, Gilbert's disease, Gilbert's syndrome, Hebra's disease. (05 Mar 2000) |
| familial paroxysmal rhabdomyolysis | acute recurrent rhabdomyolysis |
| familial periodic paralysis | <neurology> A rare inherited disorder, affecting men more often than women, characterised by intermittent episodes of muscle weakness or paralysis. One form, known as hypokalaemic periodic paralysis, is an autosomal recessive disorder that is characterised by bouts of muscle weakness (or paralysis) accompanied by low serum potassium levels. Inheritance: autosomal recessive. Incidence: 1 in 100,000. (27 Sep 1997) |
| familial polyposis | An inherited condition in which several hundred polyps develop in the colon and rectum. (12 Dec 1998) |
| familial polyposis coli | <gastroenterology, oncology> A inherited, disorder where there are multiple adenomatous polyps (up to several thousand) in the colon. Malignant degeneration of the polyps (to colon carcinoma) occurs in virtually 100% by age 40. Inheritance: autosomal dominant. (27 Sep 1997) |
| familial pseudoinflammatory macular degeneration | Macular degeneration that occurs during the fifth decade of life, with sudden development of a central scotoma in one eye followed rapidly by a similar lesion in the opposite eye; autosomal dominant inheritance. Synonym: Sorsby's macular degeneration. (05 Mar 2000) |
| familial pseudoinflammatory maculopathy | Familial macular degeneration resembling inflammatory changes. (05 Mar 2000) |
| familial pyridoxine-responsive anaemia | A rare autosomal recessive hereditary hypochromic anaemia; autosomal trait, responsive to pyridoxine. (05 Mar 2000) |
| familial recurrent polyserositis | familial paroxysmal polyserositis |
| familial screening | Screening directed at close relatives of probands with diseases that may lie latent, as in age-dependent dominant traits, or that may involve risk to progeny, as X-linked traits. (05 Mar 2000) |
| familial spinal muscular atrophy | Transmitted as autosomal recessive on chromosome 5q. Progressive dysfunction of the anterior horn cells in the spinal cord and brainstem cranial nerves with profound weakness and bulbar dysfunction occurring in the first two years of life. Three groups, based on age of clinical onset, are recognised. Synonym: familial spinal muscular atrophy, Hoffmann's muscular atrophy, infantile muscular atrophy, infantile progressive spinal muscular atrophy, progressive infantile spinal muscular atrophy, Werdnig-Hoffmann disease, Werdnig-Hoffmann muscular atrophy. (05 Mar 2000) |
| familial splenic anaemia | <disease> A chronic congenital disease of lipid metabolism caused by a deficiency of the beta-glucocerebrosidase enzyme. The defect is most common in Ashkenazi Jews. Clinical features are hepatosplenomegaly (enlargement of liver and spleen) and in severe early onset forms of the disease, with neurological dysfunction. Inheritance: autosomal recessive. (27 Sep 1997) |