Cantor Michael N, Lussier Yves A
Department of Biomedical Informatics, Columbia University, New York, NY 10032, USA.
AMIA Annu Symp Proc. 2003;2003:125-9.
A major purpose of biomedical terminologies is to provide uniform concept representation, allowing for improved methods of analysis of biomedical information. While this goal is being realized in bioinformatics, with the emergence of the Gene Ontology as a standard, there is still no real standard for the representation of clinical concepts. As discoveries in biology and clinical medicine move from parallel to intersecting paths, standardized representation will become more important. A large portion of significant data, however, is mainly represented as free text, upon which conducting computer-based inferencing is nearly impossible. In order to test our hypothesis that existing biomedical terminologies, specifically the UMLS Metathesaurus and SNOMED CT, could be used as templates to implement semantic and logical relationships over free text data that is important both clinically and biologically, we chose to analyze OMIM (Online Mendelian Inheritance in Man). After finding OMIM entries' conceptual equivalents in each respective terminology, we extracted the semantic relationships that were present and evaluated a subset of them for semantic, logical, and biological legitimacy. Our study reveals the possibility of putting the knowledge present in biomedical terminologies to its intended use, with potentially clinically significant consequences.
生物医学术语的一个主要目的是提供统一的概念表示，从而改进生物医学信息的分析方法。虽然随着基因本体论作为一种标准的出现，这一目标在生物信息学中正在实现，但临床概念的表示仍然没有真正的标准。随着生物学和临床医学的发现从并行路径转向交叉路径，标准化表示将变得更加重要。然而，很大一部分重要数据主要以自由文本形式呈现，在此基础上进行基于计算机的推理几乎是不可能的。为了检验我们的假设，即现有的生物医学术语，特别是《统一医学语言系统元词表》和《医学系统命名法-临床术语》，可以用作模板，来实现对临床和生物学上都很重要的自由文本数据的语义和逻辑关系，我们选择分析《人类孟德尔遗传在线》。在找到每个术语中与《人类孟德尔遗传在线》条目的概念等价物后，我们提取了其中存在的语义关系，并对其中一部分进行了语义、逻辑和生物学合理性评估。我们的研究揭示了将生物医学术语中存在的知识用于其预期用途的可能性，这可能会产生具有潜在临床意义的后果。
