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 on ORPHAcoding, these 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​

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​

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