| ¿µ¹® | rachitis(=rickets) | ÇÑ±Û | ±¸·çº´ |
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| FHR | familial hypophosphatemic rickets; fetal heart rate |
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| HHRH | hereditary hypophosphatemic rickets with hypercalciuria; hypothalamic hypophysiotropic releasing hor... |
| HPDR | hypophosphatemic D-resistant rickets |
| HR | heart rate; hemorrhagic retinopathy; high resolution; higher rate; histamine receptor; hormonal resp... |
| SLHR | sex-linked hypophosphatemic rickets |
| VDRR | Vitamin D resistant rickets |
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| XLH | X-Linked hypophosphataemic rickets |
| HYP | hypophosphataemic rickets |
| BFNC | Benign Familial Neonatal Convulsions |
| FAD | Familial Alzheimer's disease |
familial leiomyomatosis cutis et uteri (°¡Á·¼º ÇǺΠÀڱà ±ÙÁ¾Áõ
| familial hypophosphatemic rickets | <radiology> X-linked recessive, defect in renal tubular resorption of phosphate, presents at 1 yr, progressive limb deformities X-ray: less severe changes than other rickets, presents later Differential diagnosis features: family hx, normal serum calcium, marked hypophosphataemia (decreased PO4), no secondary hyperparathyroidism (12 Dec 1998) |
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| acute rickets | Bone changes seen in infantile scurvy, consisting of subperiosteal haemorrhage and deficient osteoid tissue formation; often used to indicate simultaneous occurrence of rickets and scurvy. Synonym: acute rickets. Hereditary hypophosphatemic rickets, with hypercalciuria, an inherited disorder in which there is a defect in renal tubular reabsorption. (05 Mar 2000) |
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| adult rickets | <pathology> A condition marked by softening of the bones (due to impaired mineralisation, with excess accumulation of osteoid), with pain, tenderness, muscular weakness, anorexia and loss of weight, resulting from deficiency of vitamin D and calcium. Origin: Gr. Malakia = softness (18 Nov 1997) |
| refractory rickets | Rickets that does not respond to treatment with usual doses of vitamin D and adequate dietary calcium and phosphorus. Most often due to inherited renal tubular disorder e.g., Fanconi syndrome. Renal rickets, a form of rickets occurring in children in association with and apparently caused by renal disease with hyperphosphatemia. Synonym: pseudorickets, renal fibrocystic osteosis, renal infantilism, renal osteitis fibrosa. (05 Mar 2000) |
| vitamin d-resistant rickets | <radiology> X-linked recessive, defect in renal tubular resorption of phosphate, presents at 1 yr, progressive limb deformities X-ray: less severe changes than other rickets, presents later Differential diagnosis features: family hx, normal serum calcium, marked hypophosphataemia (decreased PO4), no secondary hyperparathyroidism (12 Dec 1998) |
| rickets | <rheumatology, orthopaedics> A condition caused by deficiency of vitamin D, especially in infancy and childhood, with disturbance of normal ossification. The disease is marked by bending and distortion of the bones under muscular action, by the formation of nodular enlargements on the ends and sides of the bones, by delayed closure of the fontanelles, pain in the muscles and sweating of the head. Vitamin D and sunlight together with an adequate diet are curative, provided that the parathyroid glands are functioning properly. Origin: Gr. Rhachitis = a spinal complaint (18 Nov 1997) |
| coeliac rickets | Arrested growth, and osseous deformities associated with defective absorption of fat and calcium in coeliac disease. (05 Mar 2000) |
| haemorrhagic rickets | Bone changes seen in infantile scurvy, consisting of subperiosteal haemorrhage and deficient osteoid tissue formation; often used to indicate simultaneous occurrence of rickets and scurvy. Synonym: acute rickets. Hereditary hypophosphatemic rickets, with hypercalciuria, an inherited disorder in which there is a defect in renal tubular reabsorption. (05 Mar 2000) |
| scurvy rickets | infantile scurvy |
| late rickets | <pathology> A condition marked by softening of the bones (due to impaired mineralisation, with excess accumulation of osteoid), with pain, tenderness, muscular weakness, anorexia and loss of weight, resulting from deficiency of vitamin D and calcium. Origin: Gr. Malakia = softness (18 Nov 1997) |
| benign familial chorea | A rare, nonprogressive movement disorder characterised by chorea and athetosis appearing in early childhood, most commonly manifested as gait ataxia and upper limb coordination. Intellect is unaffected. Probably autosomal-dominance inheritance with incomplete penetrance. (05 Mar 2000) |
| benign familial chronic pemphigus | Recurrent eruption of vesicles and bullae that become scaling and crusted lesions with vesicular borders, predominantly of the neck, groin, and axillary regions; autosomal dominant inheritance, presenting in late adolescence or early adult life. Synonym: Hailey-Hailey disease. (05 Mar 2000) |
| benign familial icterus | 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) |
| cancer, breast, familial | A number of factors have been identified that increase the risk of breast cancer. One of the strongest of these risk factors is the history of breast cancer in a relative. About 15-20% of women with breast cancer have such a family history of the disease, clearly reflecting the participation of inherited (genetic) components in the development of some breast cancers. Dominant breast cancer suceptibility genes, including BRCA1 and BRCA2, appear responsible for about 5% of all breast cancer. (12 Dec 1998) |
| paralysis, familial periodic | An autosomal dominant trait marked by recurring attacks of rapidly progressive flaccid paralysis. There are three types: I, associated with a fall in serum potassium levels (hypokalaemic periodic paralysis); II, associated with a rise therein (hyperkalaemic periodic paralysis, called also adynamia episodica hereditaria); and III, with normal levels (normokalaemic periodic paralysis). (12 Dec 1998) |
| pemphigus, benign familial | Rare hereditary disease characterised by recurrent eruptions of vesicles and bullae mainly on the neck, axillae, and groin. It exhibits autosomal dominant inheritance and is unrelated to pemphigus vulgaris though it closely resembles that disease. (12 Dec 1998) |
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