综合征命名

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.

DOI:10.1136/jmg.13.4.266

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013413/

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

由于综合征的命名有助于数据收集，所以它们远不止是标签。随着新综合征被明确界定，其名称意味着（1）表型谱，（2）自然病史，以及（3）遗传方式或复发风险。本文回顾了命名新综合征的各种方法，包括以（1）基本缺陷、（2）人名、（3）一个或多个显著特征、（4）首字母缩写词、（5）数字、（6）地理术语，以及（7）上述内容的某种组合来命名。这些命名系统都并非完美无缺。本文讨论了每种系统的优缺点。

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