本文探讨了针对欧洲背景的罕见疾病（RD）通用数据模型（CDM）的开发和实施的关键成功因素。一些挑战阻碍了诊断中的RD护理和研究，治疗,和研究，包括数据碎片，缺乏标准化，以及医疗保健信息系统中的互操作性(IOP)问题。我们确定了研发清洁发展机制的关键问题和建议，借鉴国际准则和现有基础设施，为了解决组织问题，共识,互操作性，用法，和二次使用挑战。基于这些,我们分析了平衡CDM的范围和IOP的重要性，以满足RD的独特要求，同时确保跨系统的有效数据交换和使用。总之,精心设计的RD-CDM可以弥合RD护理和研究方面的差距，加强患者护理，促进国际合作。
This paper explores key success factors for the development and implementation of a Common Data Model (CDM) for Rare Diseases (RDs) focusing on the European context. Several challenges hinder RD care and research in diagnosis, treatment, and research, including data fragmentation, lack of standardisation, and Interoperability (IOP) issues within healthcare information systems. We identify key issues and recommendations for an RD-CDM, drawing on international guidelines and existing infrastructure, to address organisational, consensus, interoperability, usage, and secondary use challenges. Based on these, we analyse the importance of balancing the scope and IOP of a CDM to cater to the unique requirements of RDs while ensuring effective data exchange and usage across systems. In conclusion, a well-designed RD-CDM can bridge gaps in RD care and research, enhance patient care and facilitate international collaborations.
