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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Detalles Bibliográficos
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:
Research
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

Internet

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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