Guidance documents for ORPHAcoding implementation and exploitation

The RD-ACTION project Workpackage 5 group (DIMDI (German Institute for Medical Documentation and Information), Germany; BNDMR (French rare disease registry), AP-HP, France; Veneto region RD registry, Italy & Inserm) delivered in 2018 resources, guidelines and recommendations for ORPHAcoding implementation and exploitation in order to ensure internationally standardised data collection. These documents were reviewed and revised when necessary in 2021 by the RD-CODE project Workpackage 5 Working group ((DIMDI (German Institute for Medical Documentation and Information), Germany now Bfarm; BNDMR (French rare disease registry), AP-HP, France; Veneto region RD registry, Italy & Inserm)).

Recommendation for Routine Maintennace of codification resources for rare diseases was delivered by the RD-ACTION project in 2018​ & SSpecifications for an integrated coding application with ORPHAcodes

The document Standard Procedure and guidelines for coding with ORPHAcodes delivered initially by the RD-ACTION project has been updated by the RD-CODE project in December 2021.​

The document « Specification and implementation manual of the Master file for statistical reporting with ORPHAcodes , delivered initially by the RD-ACTION project, has been updated by the RD-CODE project in December 2021.​

The document Existing experiences and Guidelines about the coding of undiagnosed rare diseases patients has been issued as a consensus document on codification of suspected/undiagnosed rare diseases by the RD-CODE project in December 2021​

The document OD4RD2 Whitepaper: Semantic interoperability of data on rare diseases - ORPHAcodes as part of the coding system landscape, was delivered by the OD4RD2 project in March 2025.

Videos : Introduction to guidelines for ORPHAcoding video and guidelines for coding undiagnosed patients)