Representation of Rare Diseases in Health Information Systems: The Orphanet Approach to Serve a Wide Range of End Users
Representation of Rare Diseases in Health Information Systems: The Orphanet Approach to Serve a Wide Range of End Users
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DOI：
10.1002/humu.22078
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发表时间：
2012-05-01
期刊：
影响因子：
3.9
通讯作者：
Ayme, Segolene
中科院分区：
文献类型：
--
作者：
Rath, Ana;Olry, Annie;Ayme, Segolene
罕见疾病在国际分类中几乎没有代表，因此在信息系统中不可见。卫生信息系统和研究的主要需求之一是共享和/或整合来自具有不同参考术语的异质来源的数据。ORPHANET （www.orpha.net）是一个关于罕见疾病和孤儿药的多语种信息门户网站。孤儿信息系统是由一个围绕罕见疾病概念建立的关系数据库支持的。在Orphanet中对罕见疾病的描述包含了越来越复杂的层次：词汇（多语言术语）、分类学（多层次分类）、关系（注释-流行病学数据和对象类别-基因、表现和孤儿药-集成在关系数据库中）和互操作（语义互操作性）。罕见疾病被映射到国际疾病分类（第10版），SNOMED CT, MeSH， MedDRA和UMLS。基因与HGNC、UniProt、OMIM和Genatlas交叉比对。一套工具允许提取提供不同观点的大量数据集，这些数据集可用于生物信息学，以回答复杂的问题，旨在满足研究人员和制药业在开发治疗罕见疾病的药品方面的需求。本体正在开发中。Orphanet命名法处于科学数据存储库和临床术语标准的十字路口，适合用作标准术语。中国生物医学工程学报，2012,33(3):394 - 398。(C) 2012 Wiley期刊公司
Rare disorders are scarcely represented in international classifications and therefore invisible in information systems. One of the major needs in health information systems and for research is to share and/or to integrate data coming from heterogeneous sources with diverse reference terminologies. ORPHANET (www.orpha.net) is a multilingual information portal on rare diseases and orphan drugs. Orphanet information system is supported by a relational database built around the concept of rare disorders. Representation of rare diseases in Orphanet encompasses levels of increasing complexity: lexical (multilingual terminology), nosological (multihierarchical classifications), relational (annotations-epidemiological data-and classes of objects-genes, manifestations, and orphan drugs-integrated in a relational database), and interoperational (semantic interoperability). Rare disorders are mapped to International Classification of Diseases (10th version), SNOMED CT, MeSH, MedDRA, and UMLS. Genes are cross-referenced with HGNC, UniProt, OMIM, and Genatlas. A suite of tools allow for extraction of massive datasets giving different views that can be used in bioinformatics to answer complex questions, intended to serve the needs of researchers and the pharmaceutical industry in developing medicinal products for rare diseases. An ontology is under development. The Orphanet nomenclature is at the crossroads of scientific data repositories and of clinical terminology standards, and is suitable to be used as a standard terminology. Hum Mutat 33: 803-808, 2012. (C) 2012 Wiley Periodicals, Inc.