| PFKL | phosphofructokinase, liver type; 6-phosphofructo-2-kinase, liver type |
|---|---|
| PFKP | phosphofructokinase, platelet type; 6-phosphofructo-2-kinase, platelet type |
| HSM Syndrome | juvenile-familial Endocrinopathy Hypoparathyroidism Addison's Disease Menillansis |
| AR | 1) Aortic Regurgitation = AI Echo소견 &... |
| CEA | Carcino-Embryonic Antigen [HP 1825-6] ; Oncofetal Antigens ; Glycopro... |
| familial microcytic anaemia | A rare type of autosomal recessive hypochromic microcytic anaemia associated with a defect of iron metabolism characterised by high serum iron, hepatic iron deposits, and absence of stainable bone marrow iron stores. (05 Mar 2000) |
|---|---|
| familial multiple endocrine adenomatosis | The presence of functioning tumours in more than one endocrine gland, commonly the pancreatic islets and parathyroid glands, which may be associated with Zollinger-Ellison syndrome; dominant inheritance. Synonym: multiple endocrine adenomatosis. (05 Mar 2000) |
| 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) |