Article

Semantic modelling of Common Data Elements for Rare Disease registries, and a prototype workflow for their deployment over registry data

2021-07-30

Abstract excerpt

<h4>Background</h4> The European Platform on Rare Disease Registration (EU RD Platform) aims to address the fragmentation of European rare disease (RD) patient data, scattered among hundreds of independent and non-coordinating registries, by establishing standards for integration and interoperability. The first practical output of this effort was a set of 16 Common Data Elements (CDEs) that should be implemented b...

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Literature Corpus work: c1ae5d51-b5b5-553e-a903-b3d1cf4e3267
DOI: 10.1101/2021.07.27.21261169

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