ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability

Orphanet Journal of Rare Diseases

Research

Kurt Kirch¹  Stefanie Weber¹  Virginia Corrochano²  Cèline Angin³  Cristina Rusu⁴  Monica Panzaru⁴  Sylvie Maiella⁵  Ana Rath⁵  Caterina Lucano⁵  Katerina Hanusova⁶  Miroslav Zvolsky⁶  Francis Agius⁷  Laura Visonà Dalla Pozza⁸  Monica Mazzucato⁸  Paola Facchin⁸  Clara Cavero-Carbonell⁹  Oscar Zurriaga⁹  Deborah Lambert^1,10 

[1] BfArM, Bonn, Germany;CIBERER, Valencia, Spain;French National Rare Disease Registry (BNDMR), Greater Paris University Hospitals (AP-HP), Paris, France;Grigore T Popa-University of Medicine and Pharmacy, Iasi, Romania;Inserm US14 – Orphanet, Paris, France;Institute of Health Information and Statistics of the Czech Republic, Prague, Czech Republic;Malta Mater Dei Hospital, Msida, Malta;RD Coordinating Centre, Veneto Region, Padua University Hospital, Padua, Italy;Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, Valencia, Spain;The Rotunda Hospital, Dublin, Ireland;

关键词: Rare diseases;    Coding;    Diagnoses;    Orphanet;    ORPHAcodes;    ICD-10;    Epidemiology;    Public health;   

DOI  :  10.1186/s13023-023-02864-6

 received in 2023-04-26, accepted in 2023-08-20,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundEstimates of rare disease (RD) population impact in terms of number of affected patients and accurate disease definition is hampered by their under-representation in current coding systems. This study tested the use of a specific RD codification system (ORPHAcodes) in five European countries/regions (Czech Republic, Malta, Romania, Spain, Veneto region-Italy) across different data sources over the period January 2019-September 2021.ResultsOverall, 3133 ORPHAcodes were used to describe RD diagnoses, mainly corresponding to the disease/subtype of disease aggregation level of the Orphanet classification (82.2%). More than half of the ORPHAcodes (53.6%) described diseases having a very low prevalence (< 1 case per million), and most commonly captured rare developmental defects during embryogenesis (31.3%) and rare neurological diseases (17.6%). ORPHAcodes described disease entities more precisely than corresponding ICD-10 codes in 83.4% of cases.ConclusionsORPHAcodes were found to be a versatile resource for the coding of RD, able to assure easiness of use and inter-country comparability across population and hospital databases. Future research on the impact of ORPHAcoding as to the impact of numbers of RD patients with improved coding in health information systems is needed to inform on the real magnitude of this public health issue.

【 授权许可】

CC BY   
© Institut National de la Santé et de la Recherche Médicale (INSERM) 2023

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