| ¿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... |
| HVDRR | hypocalcemic vitamin D-resistant rickets |
| VDRR | Vitamin D resistant rickets |
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| XLH | X-Linked hypophosphataemic rickets |
| HYP | hypophosphataemic rickets |
| EIEE | Early infantile epileptic encephalopathy |
| IHPS | Infantile Hypertrophic Pyloric Stenosis |
familial leiomyomatosis cutis et uteri (°¡Á·¼º ÇǺΠÀڱà ±ÙÁ¾Áõ
| 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 |
| 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) |
| 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) |
| aggressive infantile fibromatosis | A childhood counterpart of abdominal or extra-abdominal desmoid tumours, characterised by firm subcutaneous nodules that grow rapidly in any part of the body that invade locally and recur but do not metastasize. (05 Mar 2000) |
| autism, infantile | A syndrome beginning in infancy and characterised by a lack of responsiveness to other people, gross impairment in verbal and nonverbal communication skills, and bizarre responses to the environment. (12 Dec 1998) |
| progressive infantile 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) |
| spasms, infantile | Primary generalised epileptic seizures occurring in infants between birth and twelve months of age consisting of brief synchronous contractions of the neck, torso, and both arms. These seizures often occur in infants with underlying neurologic diseases. The prognosis for these infants is grave, with approximately ninety percent developing mental retardation in addition to their seizures. The eeg has a typical hypsarrhythmia pattern. The spasms and hypsarrhythmia have a tendency to disappear over the first three to five years of life, only to be replaced by other forms of generalised seizures. Infantile spasms sometimes respond to valproic acid or acth. (12 Dec 1998) |
| supravalvar aortic stenosis-infantile hypercalcaemia syndrome | <syndrome> Supravalvar aortic stenosis associated with elfin facies, mental retardation, and hypercalcaemia; usually sporadic; perhaps an irregular dominant trait. (05 Mar 2000) |
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