| AMC | academic medical center; acetylmethyl carbinol; Animal Medical Center; antibody-mediated cytotoxicit... |
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| XTM | xanthoma tuberosum multiplex |
| AFD | accelerated freeze drying; acrofacial dysostosis |
| AFFN | acrofrontofacionasal [dysostosis] |
| CFD | cephalofacial deformity; craniofacial dysostosis |
| MFD | Mandibulo-facial dysostosis |
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| AMC | Arthrogryposis Multiplex Congenita |
| M-FISH | Multiplex-fluorescence in situ hybridization |
| dysostosis multiplex | <syndrome> Mucopolysaccharidosis in which there is a deficiency of alpha-l-iduronidase, an accumulation of an abnormal intracellular material, and excretion of dermatan sulfate and heparan sulfate in the urine; with severe abnormality in development of skeletal cartilage and bone, with dwarfism, kyphosis, deformed limbs, limitation of joint motion, spadelike hand, corneal clouding, hepatosplenomegaly, mental retardation, and gargoyle-like facies; autosomal recessive inheritance. See: mucolipidosis. Synonym: dysostosis multiplex, Hurler's disease, lipochondrodystrophy, Pfaundler-Hurler syndrome, type IH mucopolysaccharidosis. (05 Mar 2000) |
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| arthrogryposis multiplex congenita | Limitation of range of joint motion and contractures present at birth, usually involving multiple joints; a syndrome probably of diverse aetiology that may result from changes in spinal cord, muscle, or connective tissue. Several forms exist, autosomal dominant, recessive, and X-linked. Synonym: amyoplasia congenita. (05 Mar 2000) |
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| paramyoclonus multiplex | Synonym: myoclonus multiplex. Origin: para-+ G. Mys, muscle, + klonos, a tumult (05 Mar 2000) |
| mononeuritis multiplex | <endocrinology, neurology> A condition characterised by inflammation of several nerves in unrelated portions of the body, may be seen in association with long-standing diabetes. (27 Sep 1997) |
| myoclonus multiplex | An ill-defined disorder marked by rapid and widespread muscle contractions. Synonym: paramyoclonus multiplex, polyclonia, polymyoclonus. (05 Mar 2000) |
| haemangioendothelioma tuberosum multiplex | An eruption of pinkish papules, caused by hyperplasia of the endothelium of the superficial blood vessels. (05 Mar 2000) |
| xanthoma multiplex | <dermatology, pathology> An accumulation of an excess of lipids in the body due to disturbance of lipid metabolism and marked by the formation of foam cells in skin lesions. (16 Dec 1997) |
| steatocystoma multiplex | Widespread, multiple, thin-walled cysts of the skin that are lined by squamous epithelium, including lobules of sebaceous cells. (05 Mar 2000) |
| dysplasia epiphysialis multiplex | A dominantly inherited abnormality of epiphyses characterised by difficulty in walking, pain and stiffness of joints, stubby fingers, and often dwarfism of short-limb type; on X-ray examination, the epiphyses are mottled and irregular; ossification centres are late in appearance and may be multiple, but the vertebrae are normal. There is also an autosomal recessive form . Synonym: dysplasia epiphysialis multiplex. (05 Mar 2000) |
| lymphangioma tuberosum multiplex | A cutaneous lesion characterised by multiple, slightly red, cystlike nodules (located chiefly on the trunk), resulting from fairly large lymphatic vessels and spaces, and groups of proliferating endothelial cells; the lesion has some gross resemblance to spiradenoma, except for the characteristic location. (05 Mar 2000) |
| acrofacial dysostosis | Mandibulofacial dysostosis associated with malformations of the extremities such as defective radius and thumbs, and radioulnar synostosis. See: Treacher Collins' syndrome Synonym: acrofacial syndrome. Origin: dys-+ G. Osteon, bone, + -osis, condition (05 Mar 2000) |
| mandibuloacral dysostosis | An autosomal recessive disorder characterised by dental crowding, acro-osteolysis, stiff joints, and atrophy of the skin of the hands and feet; clavicles are hypoplastic, cranial sutures are wide, and multiple wormian bones are present. (05 Mar 2000) |
| mandibulofacial dysostosis | A hereditary disorder occurring in two forms: the complete form (franceschetti's syndrome) is characterised by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (treacher collins syndrome) is characterised by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (12 Dec 1998) |
| peripheral dysostosis | Dysostosis of the metacarpals and metatarsals, accompanied by variable facial features; possibly autosomal dominant inheritance. (05 Mar 2000) |
| metaphysial dysostosis | A rare developmental abnormality of the skeleton in which metaphyses of tubular bones are expanded by deposits of cartilage. (05 Mar 2000) |
| cleidocranial dysostosis | <paediatrics> An inherited disorder of bone development transmitted with an autosomal dominant pattern. Characteristics include absent or incompletely formed collar bones, dental abnormalities, joint laxity and a characteristic facial appearance (heavy brow, protruding jaw, wide nasal bridge and malaligned teeth). Inheritance: autosomal dominant. (27 Sep 1997) |
| dysostosis multiplex |
Hurler's syndrome: hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation
출처: wordnet.princeton.edu/perl/webwn
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| dysostosis multiplex |
Misshapen bones.
출처: www.lsdn.com/glance_glossary.shtml
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| dysostosis multiplex |
The widespread changes that are seen in the bones of people with various forms of MPS, including MPS VI. These changes are partly responsible for the altered physique and posture seen in people with MPS. Dysostosis multiplex includes changes in the skull, spinal column, pelvis, collar bones, ribs, long arm and leg bones, and bones of the hands and feet.
출처: www.maroteaux-lamy.com/pc/about/Glossary.asp
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| dysostosis multiplex | hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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