Transition database for rare diseases and its use for clinical documentation.

IF 2.2 3区 医学 Q2 HEALTH CARE SCIENCES & SERVICES Health Informatics Journal Pub Date : 2024-04-01 DOI:10.1177/14604582241259322
Michele Zoch, Christian Gierschner, Richard Gebler, Liz A Leutner, Tanita Kretschmer, Adrian Danker, Min Ae Lee-Kirsch, Reinhard Berner, Martin Sedlmayr
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Abstract

Patients with rare diseases commonly suffer from severe symptoms as well as chronic and sometimes life-threatening effects. Not only the rarity of the diseases but also the poor documentation of rare diseases often leads to an immense delay in diagnosis. One of the main problems here is the inadequate coding with common classifications such as the International Statistical Classification of Diseases and Related Health Problems. Instead, the ORPHAcode enables precise naming of the diseases. So far, just few approaches report in detail how the technical implementation of the ORPHAcode is done in clinical practice and for research. We present a concept and implementation of storing and mapping of ORPHAcodes. The Transition Database for Rare Diseases contains all the information of the Orphanet catalog and serves as the basis for documentation in the clinical information system as well as for monitoring Key Performance Indicators for rare diseases at the hospital. The five-step process (especially using open source tools and the DataVault 2.0 logic) for set-up the Transition Database allows the approach to be adapted to local conditions as well as to be extended for additional terminologies and ontologies.

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罕见病过渡数据库及其在临床文件中的应用。
罕见病患者通常症状严重,病情慢性,有时甚至危及生命。不仅是疾病的罕见性,罕见疾病的记录不全也常常导致诊断的严重延误。这其中的一个主要问题是《疾病和相关健康问题国际统计分类》等常见分类的编码不完善。而 ORPHAcode 则可以对疾病进行精确命名。迄今为止,只有少数方法详细报告了在临床实践和研究中如何从技术上实施 ORPHA 代码。我们介绍了一种存储和映射 ORPHA 代码的概念和实现方法。罕见病过渡数据库包含 Orphanet 目录中的所有信息,是临床信息系统记录和监测医院罕见病关键绩效指标的基础。建立过渡数据库的五步流程(特别是使用开源工具和 DataVault 2.0 逻辑)使该方法能够适应当地条件,并可扩展到其他术语和本体。
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来源期刊
Health Informatics Journal
Health Informatics Journal HEALTH CARE SCIENCES & SERVICES-MEDICAL INFORMATICS
CiteScore
7.80
自引率
6.70%
发文量
80
审稿时长
6 months
期刊介绍: Health Informatics Journal is an international peer-reviewed journal. All papers submitted to Health Informatics Journal are subject to peer review by members of a carefully appointed editorial board. The journal operates a conventional single-blind reviewing policy in which the reviewer’s name is always concealed from the submitting author.
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