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ORPHAcode, ICD-10, SNOMED and Co.: Evaluation of terminology mappings in the field of rare diseases

Crossref DOI link: https://doi.org/10.1007/s12553-025-00980-w

Published Online: 2025-05-13

Published Print: 2025-05

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Zoch, Michele https://orcid.org/0000-0002-5577-7760
Gierschner, Christian https://orcid.org/0009-0000-5444-8562
Weidner, Jens https://orcid.org/0000-0003-4373-8147
Lorenz, Stephan https://orcid.org/0000-0002-9152-1826
Henke, Elisa https://orcid.org/0000-0002-5002-2676
Reinecke, Ines https://orcid.org/0000-0003-0154-2867
Kallfelz, Michael https://orcid.org/0009-0005-6786-3569
Weber, Stefanie https://orcid.org/0000-0002-2023-8193
Thomas, Carina https://orcid.org/0009-0007-8993-8714
Sedlmayr, Martin https://orcid.org/0000-0002-9888-8460
Funding

Funding for this research was provided by:

Technische Universität Dresden
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Text and Data Mining valid from 2025-05-01

Version of Record valid from 2025-05-13
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Article History

Received: 13 March 2025

Accepted: 3 May 2025

First Online: 13 May 2025

Declarations

:

: The authors have no relevant financial or non-financial interests to disclose.