| Autor: |
Monica Mazzucato, Laura Visonà Dalla Pozza, Paola Facchin, Cèline Angin, Francis Agius, Clara Cavero-Carbonell, Virginia Corrochano, Katerina Hanusova, Kurt Kirch, Deborah Lambert, Caterina Lucano, Sylvie Maiella, Monica Panzaru, Cristina Rusu, Stefanie Weber, Oscar Zurriaga, Miroslav Zvolsky, Ana Rath |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
1750-1172 |
| DOI: |
10.1186/s13023-023-02864-6 |
| Popis: |
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 ( |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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