Congenital absence of the spinal cord.
| 单词 | θ11871 |
| 释义 | the world > health and disease > ill health > a disease > congenital or hereditary syndromes > [noun] (46) amyelia1865 Congenital absence of the spinal cord. amelia1872 Congenital absence of one or more limbs. congenital myotonia1886 Persistent contraction of skeletal muscle after the cessation of voluntary effort or electrical or mechanical stimulation; (chiefly with… myotonia congenita1887 A rare hereditary disease manifesting soon after birth and characterized by myotonia but without muscular wasting or other symptoms. Also called Th… Thomsen's disease1890 See quot. 1890. von Recklinghausen's disease1899 A familial disease in which numerous neurofibromas develop on various parts of the body, esp. the skin, the nerve trunks, and the peripheral nerves… pseudoxanthoma1900 (in full pseudoxanthoma elasticum) a genetic disorder of elastic tissue leading to the formation of soft, yellowish papules and plaques in the… Werdnig–Hoffmann1903 Used in the possessive and attributively to designate a fatal familial disease that is present at birth or develops soon afterwards and is… myotonia atrophica1908 = myotonic dystrophy, n. Fröhlich1909 Used attributively and in the possessive to designate a syndrome characterized esp. by obesity and sexual infantilism and caused by a tumour in the… Milroy's disease1909 A hereditary (autosomal dominant) form of lymphoedema, in which oedema, particularly involving the lower limbs, is present from birth. Lindau disease1928 = von Hippel–Lindau disease n. at von Hippel–Lindau, n. Steinert's disease1932 Steinert's disease = myotonia atrophica, n. von Hippel–Lindau disease1932 an inherited disorder characterized by the presence of haemangioblastomas in the cerebellum, in association with retinal angiomas and often with… Werner's syndrome1934 Werner's syndrome: a rare hereditary syndrome whose symptoms include short stature, endocrine and vascular disorders, and premature ageing and death. Sturge–Weber syndrome1935 Sturge–Weber syndromeor disease: a congenital syndrome in which a diffuse malformation of blood vessels on one side of the head produces port-wine… gargoylism1936 Medicine. A syndrome characterized by mental deficiency and skeletal deformities, including an abnormally large head, short limbs, and a protruding… Morgagni's syndrome1936 a syndrome characterized by thickening of the inner table of the frontal bones of the skull in association with obesity, virilization, diabetes, or… Hurler's disease1937 = gargoylism, n. 2. von Willebrand1941 Used attributively and in the possessive to designate a hereditary disease described by von Willebrand that is characterized by prolonged bleeding… Turner1942 Used in the possessive (less commonly attrib.) to designate a syndrome described by Turner in 1938 which affects females and is characterized by… autism1944 A neurodevelopmental condition of variable severity with lifelong effects which can be recognized from early childhood, chiefly characterized by… hypophosphatasia1948 a familial congenital disease associated with an abnormally low level of alkaline phosphatase in the body and defective bone development. Klinefelter1950 Used in the possessive (less commonly attributively) to designate a syndrome which affects males and becomes evident at puberty or after, being… mucopolysaccharidosis1952 Any of a group of inherited metabolic disorders in which mucopolysaccharides accumulate in various tissues, often leading to skeletal… progeria1957 Chiefly with distinguishing word or words: any of several other syndromes characterized by apparent premature ageing in children or adults. Cf. We… Pendred1960 attributive, in the genitive, and with of: designating an inherited (autosomal recessive) syndrome characterized by goitre, a variable degree of… Down's syndrome1961 a congenital condition characterized by a distinctive pattern of physical characteristics including a flattened skull, pronounced folds of skin… Patau's syndrome1961 A constellation of congenital anomalies caused by trisomy of chromosome 13, including microcephaly, coloboma of the iris, cleft palate and lip, and… Marinesco–Sjögren syndrome1962 A hereditary (autosomal recessive) syndrome characterized by cerebellar ataxia, congenital cataracts, and mental retardation. cri du chat syndrome1964 A rare congenital disorder resulting from deletion of part of the short arm of chromosome 5, characterized by microcephaly, facial abnormalities… Prader–Willi syndrome1964 A congenital neurodevelopmental disorder characterized by an excessive appetite, often leading to morbid obesity, and a variety of other signs… Noonan syndrome1965 An inherited (autosomal dominant) syndrome typically characterized by short stature, facial dysmorphism, webbed neck, congenital heart disease… Lesch-Nyhan syndrome1966 attributive, esp. in Lesch-Nyhan syndrome. Designating an inherited disorder of purine metabolism characterized by abnormally high levels of uric… Wernicke–Korsakoff1966 Used in the possessive to designate. An encephalopathy caused by vitamin B1 deficiency and characterized by mental confusion and uncontrolled… Down1967 In the genitive, used absol. Down's syndrome. mannosidosis1969 Either of two inherited (autosomal recessive) metabolic storage diseases in humans and certain other mammals, in which deficiency of alpha- or… mucolipidosis1970 Any of various hereditary diseases affecting metabolism in which the accumulation of mucolipids in tissue produces clinical abnormalities similar… Asperger's syndrome1971 a condition now regarded as an autism spectrum disorder, characterized chiefly by difficulties with social interaction, repetitive patterns of… Angelman syndrome1972 a disorder characterized by intellectual disability, speech impairment, uncoordinated movements, and seizures, typically with hyperactivity and… adrenoleukodystrophy1973 Originally: an inherited (X-linked recessive) disorder characterized by atrophy of the adrenal cortex and degeneration of the white matter of the… SCID1973 severe combined immune deficiency. severe combined immune deficiency1973 a rare and often fatal congenital immune deficiency which is characterized by abnormally low levels of T lymphocytes and (in most cases) also of… Miller–Dieker syndrome1980 A syndrome comprising congenital malformations of the face, brain (absence of cerebral gyri), and various other organs, leading to severe… Asperger1988 In the genitive, used absol. = Asperger's syndrome n. at sense 1a. Asperger's disorder1994 = Asperger's syndrome n. at sense 1a. |
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