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| DEH | dysplasia epiphysealis hemimelica |
|---|---|
| AMC | academic medical center; acetylmethyl carbinol; Animal Medical Center; antibody-mediated cytotoxicit... |
| XTM | xanthoma tuberosum multiplex |
| FMD | facility medical director; family medical doctor; fibromuscular dysplasia; foot and mouth disease; f... |
| HED | hereditary ectodermal dysplasia; hydrotropic electron-donor; hypohidrotic ectodermal dysplasia; unit... |
| AMC | Arthrogryposis Multiplex Congenita |
|---|---|
| M-FISH | Multiplex-fluorescence in situ hybridization |
| ARVD | Arrhythmogenic Right Ventricular Dysplasia |
| BPD | Bronchopulmonary Dysplasia |
| CD | Campomelic dysplasia |
| 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) |
|---|---|
| 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) |
| 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) |
| 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) |
| 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) |
| anhidrotic ectodermal dysplasia | A hereditary condition (most often x linked) that is characterised by the abnormal development of skin, absence of sweat glands, dry eyes and abnormal development of teeth. Symptoms include absent teeth, peg teeth, inability to sweat, thin skin and heat intolerance. Mucous membrane involvement may result in a foul-smelling nasal discharge. The inability to sweat leads to the inability to maintain normal body temperature in a warm environment. Some may exhibit fevers and will require artificial cooling. Inheritance: mostly sex-linked (X chromosome). Origin: Gr. Plassein = to form (12 Nov 1997) |
| anterofacial dysplasia | Abnormal growth of the face or cranium in an anteroposterior direction as seen and measured with a cephalogram. (05 Mar 2000) |
| arrhythmogenic right ventricular dysplasia | A congenital cardiomyopathy in which transmural infiltration of adipose tissue results in weakness and aneurysmal bulging of the infundibulum, apex, and posterior basilar region of the right ventricle and leads to ventricular tachycardia arising in the right ventricle. (12 Dec 1998) |
| asphyxiating thoracic dysplasia | Hereditary hypoplasia of the thorax, associated with pelvic skeletal abnormality. Synonym: asphyxiating thoracic chondrodystrophy, Jeune's syndrome, thoracic-pelvic-phalangeal dystrophy. (05 Mar 2000) |
| bronchopulmonary dysplasia | <embryology, paediatrics> A form of chronic lung disease of uncertain cause sometimes seen in children who have received mechanical respiratory support (with high oxygenation) in the neonatal period. Often associated with those infants who have been treated for hyaline membrane disease. Origin: Gr. Plassein = to form (27 Sep 1997) |
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