Syndrome designations.
作者信息
Cohen M M
出版信息
J Med Genet. 1976 Aug;13(4):266-70. doi: 10.1136/jmg.13.4.266.
Abstract
Because syndrome designations permit the collection of data, they are much more than just lables. As new syndromes become delineated, their names connote (1) their phenotypic spectra, (2) their natural histories, and (3) their modes of inheritance or risk of recurrence. Various methods for designating new syndromes are reviewed, including naming them after (1) the basic defect, (2) an eponym, (3) one or more striking features, (4) an acronym, (5) a numeral, (6) a geographic term, and (7) some combination of the above. None of these systems of nomenclature is without fault. The advantages and disadvantages of each are discussed.
摘要
相似文献
1
Syndrome designations.
J Med Genet. 1976 Aug;13(4):266-70. doi: 10.1136/jmg.13.4.266.
2
Value of Eponyms in Dermato-Trichological Nomenclature.
Skin Appendage Disord. 2018 Apr;4(2):71-77. doi: 10.1159/000479035. Epub 2017 Aug 12.
3
ON THE NATURE AND TERMINOLOGY OF SYNDROMES, PARTICULARLY OF THE GASTRO-INTESTINAL TRACT.
Rocky Mt Med J. 1965 Apr;62:34-9 PASSIM.
4
Syndrome: le mot de jour.
Am J Med Genet. 1991 Jun 1;39(3):342-6. doi: 10.1002/ajmg.1320390319.
5
Naming and nomenclature of syndromes.
Birth Defects Orig Artic Ser. 1974;10(7):69-86.
6
Syndrome--a changing concept.
Bull Med Libr Assoc. 1992 Oct;80(4):323-7.
7
The development and meaning of the hyphenated eponym in medical history.
AMA Arch Intern Med. 1958 Mar;101(3):662-8. doi: 10.1001/archinte.1958.00260150150021.
8
[Eponyms in medical terminology].
Bratisl Lek Listy. 1999 May;100(5):271-2.
9
Naming of syndromes and unethical activities: the case of Hallervorden and Spatz.
Lancet. 1996 Nov 2;348(9036):1224-5. doi: 10.1016/S0140-6736(96)05222-1.
10
Revisiting the Many Names of Freeman-Sheldon Syndrome.
J Craniofac Surg. 2018 Nov;29(8):2176-2178. doi: 10.1097/SCS.0000000000004802.
本文引用的文献
1
DWARFISM IN THE AMISH.
Trans Assoc Am Physicians. 1964;77:151-68.
2
Apert's syndrome (a type of acrocephalosyndactyly)-observations on a British series of thirty-nine cases.
Ann Hum Genet. 1960 May;24:151-64. doi: 10.1111/j.1469-1809.1959.tb01728.x.
3
Progressive synosteosis in Apert's syndrome (acrocephalosyndactyly), with a description of roentgenographic changes in the feet.
Am J Roentgenol Radium Ther Nucl Med. 1966 May;97(1):67-73. doi: 10.2214/ajr.97.1.67.
4
The Beckwith-Wiedemann syndrome. Seven new cases.
Am J Dis Child. 1971 Dec;122(6):515-9. doi: 10.1001/archpedi.1971.02110060085015.
5
Advances in human genetics and impact on society. Conclusion.
Birth Defects Orig Artic Ser. 1972 Jul;8(4):115-8.
6
"New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896.
Pediatrics. 1972 Apr;49(4):574-9.
7
Occipito-facial-cervico-thoracic-abdomino-digital dysplasia; Jarcho-Levin syndrome of vertebral anomalies. Report of six cases and review of the literature.
J Pediatr. 1974 Sep;85(3):388-91. doi: 10.1016/s0022-3476(74)80126-5.
8
Syndromes.
Am J Dis Child. 1971 May;121(5):365-70. doi: 10.1001/archpedi.1971.02100160035001.
Zotero 插件