ORPHA代码用于罕见疾病的编码:准确度的比较和跨国可比性
Monica Mazzucato1, Laura Visonà Dalla Pozza2, Paola Facchin2
1RD Coordinating Centre, Veneto Region, Padua University Hospital, Padua, Italy. monica.mazzucato@regione.veneto.it.
Orphanet journal of rare diseases
|September 4, 2023
概括
ORPHAcodes系统提高了欧洲各国罕见疾病 (RD) 编码准确性和可比性. 这个专门的系统提供比标准ICD-10代码更精确的疾病描述,有助于了解罕见疾病对公共健康的真正影响.
科学领域:
- 医疗信息学 医疗信息学
- 公共卫生 公共卫生
- 遗传学 遗传学 是一个
背景情况:
- 估计罕见疾病 (RD) 对人口的影响是具有挑战性的,因为它们在当前编码系统中代表性不足.
- 准确的疾病定义和患者计数受到现有医疗编码的局限性阻碍.
- 这项研究解决了改善罕见疾病数据采集和分析的需求.
研究的目的:
- 评估ORPHAcodes系统在不同欧洲医疗保健机构的罕见疾病编码中的实用性.
- 评估ORPHA代码的准确性和可比性,与现有的编码标准 (如ICD-10) 相比.
- 确定ORPHAcodes在捕捉罕见疾病的真正负担方面的潜力.
主要方法:
- 在五个欧洲国家/地区 (捷克共和国,马耳他,罗马尼亚,西班牙,威尼托地区-意大利) 实施和测试了ORPHACodes系统.
- 来自人口和医院数据库的数据从2019年1月至2021年9月期间进行了分析.
- 该研究比较了ORPHA代码的细粒度和覆盖范围与标准ICD-10代码.
主要成果:
- 总共使用了3133个ORPHA代码,主要用于疾病/亚型聚合 (82.2%).
- 超过一半 (53.6%) 的ORPHA代码代表了患病率非常低的疾病 (<100万分之一).
- 在83.4%的案例中,ORPHA代码提供了比ICD-10代码更精确的疾病实体描述,特别是在罕见的发育缺陷 (31.3%) 和神经疾病 (17.6%) 中.
结论:
- 在编码罕见疾病方面,ORPHA代码展示了多功能性和易用性.
- 该系统有助于在不同数据库中对不同国家罕见病数据的可比性.
- 建议进行进一步的研究,以了解ORPHA编码对罕见疾病公共卫生倡议的影响.
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