PCEtoFHIR: Decomposition of Postcoordinated SNOMED CT Expressions for Storage as HL7 FHIR Resources

IF 3.1 3区 医学 Q2 MEDICAL INFORMATICS JMIR Medical Informatics Pub Date : 2024-09-17 DOI:10.2196/57853
Tessa Ohlsen, Josef Ingenerf, Andrea Essenwanger, Cora Drenkhahn
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Abstract

Background: To ensure interoperability, both structural and semantic standards must be followed. For exchanging medical data between information systems, the structural standard FHIR (Fast Healthcare Interoperability Resources) has recently gained popularity. Regarding semantic interoperability, the reference terminology SNOMED Clinical Terms (SNOMED CT), as a semantic standard, allows for postcoordination, offering advantages over many other vocabularies. These postcoordinated expressions (PCEs) make SNOMED CT an expressive and flexible interlingua, allowing for precise coding of medical facts. However, this comes at the cost of increased complexity, as well as challenges in storage and processing. Additionally, the boundary between semantic (terminology) and structural (information model) standards becomes blurred, leading to what is known as the TermInfo problem. Although often viewed critically, the TermInfo overlap can also be explored for its potential benefits, such as enabling flexible transformation of parts of PCEs. Objective: In this paper, an alternative solution for storing PCEs is presented, which involves combining them with the FHIR data model. Ultimately, all components of a PCE should be expressible solely through precoordinated concepts that are linked to the appropriate elements of the information model. Methods: The approach involves storing PCEs decomposed into their components in alignment with FHIR resources. By utilizing the Web Ontology Language (OWL) to generate an OWL ClassExpression, and combining it with an external reasoner and semantic similarity measures, a precoordinated SNOMED CT concept that most accurately describes the PCE is identified as a Superconcept. In addition, the nonmatching attribute relationships between the Superconcept and the PCE are identified as the “Delta.” Once SNOMED CT attributes are manually mapped to FHIR elements, FHIRPath expressions can be defined for both the Superconcept and the Delta, allowing the identified precoordinated codes to be stored within FHIR resources. Results: A web application called PCEtoFHIR was developed to implement this approach. In a validation process with 600 randomly selected precoordinated concepts, the formal correctness of the generated OWL ClassExpressions was verified. Additionally, 33 PCEs were used for two separate validation tests. Based on these validations, it was demonstrated that a previously proposed semantic similarity calculation is suitable for determining the Superconcept. Additionally, the 33 PCEs were used to confirm the correct functioning of the entire approach. Furthermore, the FHIR StructureMaps were reviewed and deemed meaningful by FHIR experts. Conclusions: PCEtoFHIR offers services to decompose PCEs for storage within FHIR resources. When creating structure mappings for specific subdomains of SNOMED CT concepts (eg, allergies) to desired FHIR profiles, the use of SNOMED CT Expression Templates has proven highly effective. Domain experts can create templates with appropriate mappings, which can then be easily reused in a constrained manner by end users.
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PCEtoFHIR:分解后协调的 SNOMED CT 表达式,将其存储为 HL7 FHIR 资源
背景:为确保互操作性,必须同时遵循结构标准和语义标准。为了在信息系统之间交换医疗数据,结构性标准 FHIR(快速医疗互操作性资源)最近广受欢迎。在语义互操作性方面,参考术语 SNOMED Clinical Terms(SNOMED CT)作为一种语义标准,允许后协调,与许多其他词汇相比具有优势。这些后协调表达式(PCEs)使 SNOMED CT 成为一种富有表现力和灵活性的语际语言,可以对医学事实进行精确编码。然而,这样做的代价是复杂性的增加以及存储和处理方面的挑战。此外,语义(术语)和结构(信息模型)标准之间的界限变得模糊,导致了所谓的术语信息问题。尽管 TermInfo 重叠问题经常被批判性地看待,但我们也可以探索它的潜在好处,例如可以灵活地转换 PCE 的各个部分。目的本文提出了一种存储 PCE 的替代解决方案,即将 PCE 与 FHIR 数据模型相结合。最终,PCE 的所有组成部分都应仅通过与信息模型的适当元素相连的预协调概念来表达。方法:该方法涉及将 PCE 分解为与 FHIR 资源一致的组件进行存储。通过利用网络本体语言(OWL)生成 OWL ClassExpression,并将其与外部推理器和语义相似性度量相结合,将最准确描述 PCE 的预协调 SNOMED CT 概念确定为超级概念。此外,超级概念与 PCE 之间不匹配的属性关系被识别为 "Delta"。将 SNOMED CT 属性手动映射到 FHIR 元素后,就可以为 "超级概念 "和 "三角洲 "定义 FHIRPath 表达式,从而将识别出的预协调代码存储到 FHIR 资源中。结果为实现这一方法,开发了一个名为 PCEtoFHIR 的网络应用程序。在使用 600 个随机选择的预协调概念进行验证的过程中,验证了生成的 OWL ClassExpressions 的形式正确性。此外,33 个 PCE 被用于两个单独的验证测试。基于这些验证,证明了之前提出的语义相似性计算方法适用于确定超级概念。此外,33 个 PCE 被用于确认整个方法的正确功能。此外,FHIR 专家还对 FHIR 结构图进行了审查,并认为该结构图很有意义。结论:PCEtoFHIR 提供了将 PCE 分解并存储到 FHIR 资源中的服务。在为 SNOMED CT 概念(如过敏症)的特定子域创建与所需 FHIR 配置文件的结构映射时,使用 SNOMED CT 表达模板已被证明非常有效。领域专家可以创建具有适当映射的模板,然后终端用户可以以受限的方式轻松地重复使用这些模板。
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来源期刊
JMIR Medical Informatics
JMIR Medical Informatics Medicine-Health Informatics
CiteScore
7.90
自引率
3.10%
发文量
173
审稿时长
12 weeks
期刊介绍: JMIR Medical Informatics (JMI, ISSN 2291-9694) is a top-rated, tier A journal which focuses on clinical informatics, big data in health and health care, decision support for health professionals, electronic health records, ehealth infrastructures and implementation. It has a focus on applied, translational research, with a broad readership including clinicians, CIOs, engineers, industry and health informatics professionals. Published by JMIR Publications, publisher of the Journal of Medical Internet Research (JMIR), the leading eHealth/mHealth journal (Impact Factor 2016: 5.175), JMIR Med Inform has a slightly different scope (emphasizing more on applications for clinicians and health professionals rather than consumers/citizens, which is the focus of JMIR), publishes even faster, and also allows papers which are more technical or more formative than what would be published in the Journal of Medical Internet Research.
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