我国罕见病健康数据监测平台的建设现状及展望  

The current situation and prospects of rare disease case registration China

作　　者：张文[1] 许莹 张欣欣[1] 聂晓英 李汶嘉 左煌[1] ZHANG Wen;XU Ying;ZHANG Xinxin;NIE Xiaoying;LI Wenjia;ZUO Huang(First Affiliated Hospital of Xi’an Jiaotong University,Xi’an 710061,China;Shaanxi Rehabilitation hospital,Xi’an 710065,China)

机构地区：[1]西安交通大学第一附属医院,陕西西安710061 [2]陕西省康复医院,陕西西安710065

出　　处：《现代医院》2023年第9期1317-1319,共3页Modern Hospitals

基　　金：国家卫健委卫生健康统计工作高质量发展揭榜攻关任务;陕西省自然科学基础研究计划青年项目(2022JQ-750);西安市科技计划项目(21YXYJ0112)。

摘　　要：我国罕见病研究起步较晚,研究资源分散,流行病学、诊疗、用药等相关数据基础薄弱,阻碍了其研究进展。现阶段,我国已初步建成两个国家级罕见病数据库,作为疾病诊治和数据产生的有效载体,医院有责任建立完善的院端罕见病数据收集平台和病例上报系统,保证罕见病登记上报数据的准确性及完整性。通过阐述现阶段我国罕见病病例登记发展现状,总结医院在罕见病病例登记上报过程中的问题,从制度建设、指标体系建设、信息系统建设等方面对建立院端罕见病登记上报系统进行展望,旨在为建立完善的国家罕见病健康数据监测平台提供借鉴。The research of rare diseases started late in our country.Research on rare diseases is progressing slowly due to scattered of the research resource and the weak data base which including epidemiological study、diagnosis and treatment and medication of rare diseases.China has preliminarily established two national rare disease databases at present stage.The hospital has responsibility for establishing a comprehensive hospital rare disease data collection platform and case reporting system as an effective carrier for disease diagnosis and data generation.Ensure the accuracy and completeness of rare disease reporting data.By describing the current situation of rare disease case registration in China,summarize the issues in the reporting process of rare disease cases in hospitals,prospects for establishing a hospital based rare disease reporting system from aspects such as institutional construction,indicator system construction,and information system construction.Intended to provide reference for establishing a comprehensive national rare disease health monitoring platform.

关 键 词：罕见病 病例登记 信息系统 现状 展望 

分 类 号：R197.323[医药卫生—卫生事业管理] R181.2[医药卫生—公共卫生与预防医学]