Orphanet J Rare Dis. 2023 Sep 4;18(1):267. doi: 10.1186/s13023-023-02864-6. PMID: 37667299.

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

Authors: Monica Mazzucato ¹, Laura Visonà Dalla Pozza ², Paola Facchin ², Cèline Angin ³, Francis Agius ⁴, Clara Cavero-Carbonell ⁵, Virginia Corrochano ⁶, Katerina Hanusova ⁷, Kurt Kirch ⁸, Deborah Lambert ⁹, Caterina Lucano ¹⁰, Sylvie Maiella ¹⁰, Monica Panzaru ¹¹, Cristina Rusu ¹¹, Stefanie Weber ⁸, Oscar Zurriaga ⁵, Miroslav Zvolsky ⁷, Ana Rath ¹²

Affiliation:

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

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Abstract:

Background: Estimates 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.

Results: Overall, 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.

Conclusions: ORPHAcodes 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.

Keywords: Coding; Diagnoses; Epidemiology; ICD-10; ORPHAcodes; Orphanet; Public health; Rare diseases.

Download: https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02864-6