FAIRsharing record for: ERN common data elements

This FAIRsharing record describes: Semantic data model of the set of common data elements for rare disease registration. To make rare disease registry data Interoperable (the 'I' in FAIR). Version 2.0. License CC0. Here, we present a semantic data model of the set of common data elements for rare diseases registration recommended by the European commission joint research centre. There are 16 data elements: ‘Pseudonym’, ‘Date of Birth’, ‘Sex’, ‘Patient’s status’, ‘Date of death’, ‘First contact with specialised centre’, ‘Age at onset’, Age at diagnosis’, ‘Diagnosis of the rare disease’, ‘Genetic diagnosis’, ‘Undiagnosed case’, ‘Agreement to be contacted for research purposes’, ‘Consent to the reuse of data’, ’Biological sample’, ‘Link to a biobank’, ‘Classification of functioning/disability’. The semantic data model is presented in 11 modules describing the different 16 data elements. Central to each module is the 'person'. Each module has in addition different characteristics assigned to the person.