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Type Reference Content
web snomed.info 118189007
web snomed.info 3950001
web snomed.info 410672004
web snomed.info 261665006
web snomed.info 3658006
web snomed.info 713153009
web snomed.info 255398004
web snomed.info 263659003
web snomed.info 41847000
web snomed.info 303112003
web snomed.info 419099009
web snomed.info 373066001
web snomed.info 373067005
web snomed.info 1220561009
web snomed.info 65656005
web snomed.info 9947008
web snomed.info 83420006
web snomed.info 113160008
web snomed.info 60614009
web snomed.info 73678001
web snomed.info 11286003
web snomed.info 45929001
web snomed.info 2272004
web snomed.info 62296006
web snomed.info 17945006
web snomed.info 248152002
web snomed.info 248153007
web snomed.info 184115007
web snomed.info 32570691000036108
web snomed.info 734875008
web snomed.info 734876009
web snomed.info 80427008
web snomed.info 65162001
web snomed.info 35111009
web snomed.info 403760006
web snomed.info 78317008
web snomed.info 10567003
web snomed.info 48930007
web snomed.info 74964007
web snomed.info 410605003
web snomed.info 723511001
web snomed.info 24484000
web snomed.info 6736007
web snomed.info 255604002
web snomed.info 438949009
web snomed.info 399307001
web snomed.info 185924006
web rarelink.readthedocs.io History
web github.com IG © 2025 Berlin Institute of Health - Charité Universitätsmedizin Berlin . Package rarelink-ig#2.0.0 based on FHIR 4.0.1 . Generated 2025-05-12
Links: Table of Contents | QA Report
web en.wikipedia.org Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement.
web en.wikipedia.org Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement.
web snomed.info    118189007
web snomed.info    3950001
web snomed.info    410672004
web snomed.info    261665006
web snomed.info    3658006
web snomed.info    713153009
web snomed.info    255398004
web snomed.info    263659003
web snomed.info    41847000
web snomed.info    303112003
web snomed.info    419099009
web snomed.info    373066001
web snomed.info    373067005
web snomed.info    1220561009
web snomed.info    65656005
web snomed.info    9947008
web snomed.info    83420006
web snomed.info    113160008
web snomed.info    60614009
web snomed.info    73678001
web snomed.info    11286003
web snomed.info    45929001
web snomed.info    2272004
web snomed.info    62296006
web snomed.info    17945006
web snomed.info    248152002
web snomed.info    248153007
web snomed.info    184115007
web snomed.info    32570691000036108
web snomed.info    734875008
web snomed.info    734876009
web snomed.info    80427008
web snomed.info    65162001
web snomed.info    35111009
web snomed.info    403760006
web snomed.info    78317008
web snomed.info    10567003
web snomed.info    48930007
web snomed.info    74964007
web snomed.info    410605003
web snomed.info    723511001
web snomed.info    24484000
web snomed.info    6736007
web snomed.info    255604002
web snomed.info    438949009
web snomed.info    399307001
web snomed.info    185924006
web eu-rd-platform.jrc.ec.europa.eu Welcome to the RareLink Implementation Guide – a non-balloted extension of the European Rare Disease Infrastructure Common Data Set (ERDRI-CDS) . RareLink is a novel, open-source, and REDCap-based framework linking international registries to HL7 FHIR R4 and GA4GH Phenopackets to enable rare disease data interoperability.
web github.com RareLink repository
web rarelink.readthedocs.io RareLink documentation
web www.medrxiv.org RareLink paper prepint
web www.nature.com The RareLink framework builds on the novel Rare Disease Common Data Model (RD-CDM) https://doi.org/10.1038/s41597-025-04558-z harmonising the ERDRI-CDS with HL7 FHIR and GA4GH Phenopackets to enable standardized data exchange across registries and analysis tools.
web github.com RD-CDM repository
web rd-cdm.readthedocs.io RD-CDM documentation
web rarelink.readthedocs.io The RareLink Documentation centralising all components of the RareLink framework, installation and user guides, as well as background and additional information.
web linkml.io The RareLink-CDM : its corresponding REDCap data dictionary can be imported into any REDCap project with each instrument displaying a section within the RD-CDM for manuel data entry of LinkML-based semi-automatic data capture. The profiles in this implementation guide represent the entire RareLink-CDM with all elements of the RD-CDM mapped to FHIR elements and can also be used for import via the Clinical Data Interoperability Services .
web www.sciencedirect.com The RareLink-CDM : its corresponding REDCap data dictionary can be imported into any REDCap project with each instrument displaying a section within the RD-CDM for manuel data entry of LinkML-based semi-automatic data capture. The profiles in this implementation guide represent the entire RareLink-CDM with all elements of the RD-CDM mapped to FHIR elements and can also be used for import via the Clinical Data Interoperability Services .
web rarelink.readthedocs.io Further details on semi-automatic or manual data capture, FHIR import via CIDS, the CLI, the FHIR and Phenopackets module can be found in our RareLink documentation .
web eu-rd-platform.jrc.ec.europa.eu Note: The RareLink-CDM and its FHIR profiles are provided as a non-balloted extension of the ERDRI-CDS .
web github.com Bundle of example instances
web github.com Simulated evaluation cohort instances
web rarelink.readthedocs.io For questions or contributions, please see the contributing and contact section in our documentation or submit an issue on our GitHub repository .
web rarelink.readthedocs.io For questions or contributions, please see the contributing and contact section in our documentation or submit an issue on our GitHub repository .
web github.com For questions or contributions, please see the contributing and contact section in our documentation or submit an issue on our GitHub repository .

Internal Images

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