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Ontologies, Classifications, and Coding (417) Health Information Exchange (223) Information Models (101) Secondary Use of Clinical Data for Research and Surveillance (607) Standards and Interoperability (212)

Published on in Vol 14 (2026)

Preprints (earlier versions) of this paper are available at https://preprints.jmir.org/preprint/84553, first published .
Doctors review Orphanet rare disease classifications on computer and tablet.

The Orphanet Nomenclature and Classification of Rare Diseases for Improved Patient Recognition and Data Interoperability: Qualitative and Quantitative Analysis

The Orphanet Nomenclature and Classification of Rare Diseases for Improved Patient Recognition and Data Interoperability: Qualitative and Quantitative Analysis

Authors of this article:

Caterina Lucano1 Author Orcid Image ;   David Lagorce1 Author Orcid Image ;   Annie Olry1 Author Orcid Image ;   Houda Ali1 Author Orcid Image ;   Valérie Lanneau1 Author Orcid Image ;   Mickael De Carvalho1 Author Orcid Image ;   Aysegul Dilsizoglu Senol1 Author Orcid Image ;   Marta Fructuoso1 Author Orcid Image ;   Emilie Gaillard1, 2 Author Orcid Image ;   Marie-Cécile Gaillard1 Author Orcid Image ;   Seed Mihic1 Author Orcid Image ;   Mariana Tannoury1 Author Orcid Image ;   Florence Sauvage1 Author Orcid Image ;   Charlotte Rodwell1 Author Orcid Image ;   Sylvie Maiella1 Author Orcid Image ;   Marc Hanauer1 Author Orcid Image ;   Ana Rath1 Author Orcid Image
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