This paper is in the following e-collection/theme issue:

Research Infrastructures and Registries (62) Ontologies, Classifications, and Coding (243) Secondary Use of Clinical Data for Research and Surveillance (375) Policy (61)

Published on in Vol 10, No 5 (2022): May

Preprints (earlier versions) of this paper are available at https://preprints.jmir.org/preprint/32158, first published .
Domain-Specific Common Data Elements for Rare Disease Registration: Conceptual Approach of a European Joint Initiative Toward Semantic Interoperability in Rare Disease Research

Domain-Specific Common Data Elements for Rare Disease Registration: Conceptual Approach of a European Joint Initiative Toward Semantic Interoperability in Rare Disease Research

Domain-Specific Common Data Elements for Rare Disease Registration: Conceptual Approach of a European Joint Initiative Toward Semantic Interoperability in Rare Disease Research

Authors of this article:

Haitham Abaza1 Author Orcid Image ;   Dennis Kadioglu1 Author Orcid Image ;   Simona Martin2 Author Orcid Image ;   Andri Papadopoulou2 Author Orcid Image ;   Bruna dos Santos Vieira3, 4 Author Orcid Image ;   Franz Schaefer5 Author Orcid Image ;   Holger Storf1 Author Orcid Image
Article Authors Cited by (10) Tweetations (9) Metrics

Journals

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  2. Mazzucato M, Pozza L, Facchin P, Angin C, Agius F, Cavero-Carbonell C, Corrochano V, Hanusova K, Kirch K, Lambert D, Lucano C, Maiella S, Panzaru M, Rusu C, Weber S, Zurriaga O, Zvolsky M, Rath A. ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability. Orphanet Journal of Rare Diseases 2023;18(1) View
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  5. Talebizadeh Z, Hu V, Shababi M, Brower A. Landscape Analysis of Neurodevelopmental Comorbidities in Newborn Screening Conditions: Challenges and Opportunities. International Journal of Neonatal Screening 2024;10(1):4 View
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