在健康信息系统中编码未诊断的罕见病患者:来自RD-CODE项目的建议
Céline Angin1, Monica Mazzucato2, Stefanie Weber3
1French National Rare Disease Registry (BNDMR), Greater Paris University Hospitals (AP-HP), 33 Boulevard de Picpus, 75012, Paris, France. celine.angin@aphp.fr.
Orphanet journal of rare diseases
|January 27, 2024
概括
一个新的ORPHA代码可以在健康信息系统中识别未被诊断的罕见病患者. 这有助于收集关键的流行病学数据,并改善患者获得护理和研究的机会.
科学领域:
- 医疗信息学 医疗信息学
- 遗传学和基因组学 遗传学和基因组学
- 公共卫生 公共卫生
背景情况:
- 罕见疾病 (RD) 在欧盟影响不到10,000人中的5人.
- 对RD患者来说,由于复杂性和缺乏专业知识,诊断延迟是常见的.
- 以前,没有特定诊断的患者无法被编码,这阻碍了识别和支持.
研究的目的:
- 为了在健康信息系统 (HIS) 中识别未被诊断的罕见病患者.
- 促进对罕见疾病的基本流行病学数据的收集.
- 改善未被诊断的RD患者的认可和获得护理和研究的机会.
主要方法:
- 该RD-CODE项目专注于识别未被诊断的罕见病患者.
- 一个多利益相关者专家小组将未被诊断的患者定义为那些在彻底调查后没有确诊的患者.
- 为编码和注册这些患者制定了建议.
主要成果:
- 一个新的ORPHA代码 (ORPHA:616874) 被创建为"在全面调查后没有确定的诊断的罕见疾病.
- 准则对于正确和均地使用这个新代码至关重要.
- 对于未被诊断的RD患者,建议在注册表中使用额外的描述符.
结论:
- 在HIS中实施这些建议可以显著改善对RD人群的评估.
- 这有助于政策调整,包括为护理和研究提供资金.
- 改进的识别提高了未被诊断的患者获得研究计划的机会.
关键词:
编码 编码 编码 编码诊断 诊断 诊断 诊断 诊断电子健康记录是电子健康记录.流行病学 流行病学卫生信息系统 卫生信息系统这就是ORPHA的代码.公共卫生 公共卫生罕见疾病是一种罕见的疾病.登记处 登记处 登记处 登记处统计 统计 统计 统计没有诊断的患者.更多相关视频
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