Fig. 5 | Scientific Data

Fig. 5

From: An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets

Fig. 5

Steps in the development of the ontology-based rare disease common data model (RD-CDM) harmonising international registry use, FHIR and Phenopackets. The process was non-hierarchical, with overlapping steps across multiple sites. It involved assessing previous RD models, mapping elements to FHIR v4.0.1 and Phenopacket v2.0, clinical evaluation, ontology-based encoding and cross-validation, and prototypical implementations in REDCap using real patient data. The project was further supported by development in ART-DECOR and an open-source GitHub repository alongside documentation to ensure sustainability and reusability.

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