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

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 count...

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Autores principales: Mazzucato, Monica, Pozza, Laura Visonà Dalla, Facchin, Paola, Angin, Cèline, Agius, Francis, Cavero-Carbonell, Clara, Corrochano, Virginia, Hanusova, Katerina, Kirch, Kurt, Lambert, Deborah, Lucano, Caterina, Maiella, Sylvie, Panzaru, Monica, Rusu, Cristina, Weber, Stefanie, Zurriaga, Oscar, Zvolsky, Miroslav, Rath, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10476382/
https://www.ncbi.nlm.nih.gov/pubmed/37667299
http://dx.doi.org/10.1186/s13023-023-02864-6
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author Mazzucato, Monica
Pozza, Laura Visonà Dalla
Facchin, Paola
Angin, Cèline
Agius, Francis
Cavero-Carbonell, Clara
Corrochano, Virginia
Hanusova, Katerina
Kirch, Kurt
Lambert, Deborah
Lucano, Caterina
Maiella, Sylvie
Panzaru, Monica
Rusu, Cristina
Weber, Stefanie
Zurriaga, Oscar
Zvolsky, Miroslav
Rath, Ana
author_facet Mazzucato, Monica
Pozza, Laura Visonà Dalla
Facchin, Paola
Angin, Cèline
Agius, Francis
Cavero-Carbonell, Clara
Corrochano, Virginia
Hanusova, Katerina
Kirch, Kurt
Lambert, Deborah
Lucano, Caterina
Maiella, Sylvie
Panzaru, Monica
Rusu, Cristina
Weber, Stefanie
Zurriaga, Oscar
Zvolsky, Miroslav
Rath, Ana
author_sort Mazzucato, Monica
collection PubMed
description 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.
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spelling pubmed-104763822023-09-05 ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability Mazzucato, Monica Pozza, Laura Visonà Dalla Facchin, Paola Angin, Cèline Agius, Francis Cavero-Carbonell, Clara Corrochano, Virginia Hanusova, Katerina Kirch, Kurt Lambert, Deborah Lucano, Caterina Maiella, Sylvie Panzaru, Monica Rusu, Cristina Weber, Stefanie Zurriaga, Oscar Zvolsky, Miroslav Rath, Ana Orphanet J Rare Dis Research 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. BioMed Central 2023-09-04 /pmc/articles/PMC10476382/ /pubmed/37667299 http://dx.doi.org/10.1186/s13023-023-02864-6 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Mazzucato, Monica
Pozza, Laura Visonà Dalla
Facchin, Paola
Angin, Cèline
Agius, Francis
Cavero-Carbonell, Clara
Corrochano, Virginia
Hanusova, Katerina
Kirch, Kurt
Lambert, Deborah
Lucano, Caterina
Maiella, Sylvie
Panzaru, Monica
Rusu, Cristina
Weber, Stefanie
Zurriaga, Oscar
Zvolsky, Miroslav
Rath, Ana
ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability
title ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability
title_full ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability
title_fullStr ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability
title_full_unstemmed ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability
title_short ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability
title_sort orphacodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10476382/
https://www.ncbi.nlm.nih.gov/pubmed/37667299
http://dx.doi.org/10.1186/s13023-023-02864-6
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