ORPHAcoding Main-Help-Desk by ORPHANET

This helpdesk, https://github.com/OD4RD/Main-Help-Desk, is dedicated to answering questions related to the Orphanet nomenclature content and/or the implementation of ORPHAcodes in Health Information Systems or other systems. This is the official Helpdesk for ORPHAcoding, developed and maintained by Orphanet.

Our helpdesk was developed as part of the OD4RD project, which aims to address the invisibility of rare diseases (RD) by supporting the implementation of ORPHAcodes in National Health Information Systems. (To learn more about the project, please visit www.od4rd.eu).

Please note that it is possible to post issues in your language if an Orphanet Nomenclature National Hub is present in your country, as per the list and instructions below. Issues addressed to the coordinating team should be written in English*.

Before posting your issue: Please check our wiki, which contains the already available FAQ: https://github.com/OD4RD/Main-Help-Desk/wiki. Your answer may already be there.

You can also check other issues to see if you're not the only one with this problem.

To post issues:

1. Create an account on GitHub: https://github.com/.
2. By clicking the green “New issue” button in the upper right corner of the page, create your issue on https://github.com/OD4RD/Main-Help-Desk/issues.
3. Once your issue is created, please remember to click on “Assignees” (on the right).
4. And select the relevant Orphanet Nomenclature National hub manager or OD4RD(2) National hub scientific coordinator (see below for the name of the current manager), who will then forward your queries to the respective person in the team.
5. Click "Create" (at the bottom right) and You will be notified when your issue is being addressed.

*This online ticketing system allows requests & feedback from local users to be stored, tracked and made available to others interested users. Also, complex demands received by the Orphanet Nomenclature National Hubs can be easily streamlined to the Orphanet Coordinating team. Regular meetings between the Orphanet Coordinating team and the Orphanet Nomenclature National Hubs are held in order to discuss complex demands, to share best practices and find standard solutions to common problems.

**To provide a sustainable and homogeneous, standardised support, a ‘Questions and Answers’ section within the GitHub has been developed based on users’questions. It provides standardised and generalised answers among 10 main topics: alignments with other terminologies, Good practice guidelines on Orphanet Nomenclature, education and communication, epidemiology of RD, ORPHAcodes and nomenclature, Orphanet classification, Orphanet tools, Technical issues & Guidance documents for ORPHAcoding implementation and exploitation. For standardized reference Orphanet answers please check the FAQ page https://github.com/OD4RD/Main-Help-Desk/wiki It is open access to any end users.

***About OD4RD project

https://od4rd.eu

OD4RD(2) project generally aims to advance the implementation of ORPHAcodes in hospitals hosting the European Reference Networks (ERNs).

The OD4RD(2) project builds on the specific Orphanet expertise, and on its organisation as a long-lasting, well-established network, to fullfil the following general objectives:

1. To contribute to the generation of standardised, interoperable data on RD diagnosis for primary and secondary use, by the maintenance and the support to the implementation of the Orphanet nomenclature of RD.

2. To contribute to the harmonisation of data collection amongst settings (health records, registries) and amongst countries, by the dissemination of good coding practices at the data source level.

3. To contribute at supporting evidence-based decision-making in the frame of the European strategy around ERNs, by supporting the exploitation of reference corpus of data and information on RD.

• OD4RD(2) National Hub teams: Austria, Belgium, Czech Republic, Estonia, Finland, Germany, Ireland, Italy, Latvia, Lithuania, Netherlands, Norway, Poland, Portugal, Romania, Slovenia, Spain, Sweden and Switzerland (please see below for their details)

• OD4RD2 National Hub coordination: Germany and Sweden

• Orphanet coordinating team: France

• For all your queries, please tag your respective National helpdesk from below and also current Orphanet Nomenclature manager and OD4RD(2) scientific coordinator @Riddhi-orphanet

  National help desk:

@uunter98: Orphanet-Austria

@Orphabe: Orphanet-Belgium

@OrphanetDE: Orphanet-Germany

@OrphanetIRL: Orphanet-Ireland

@Orphanet-Italia: Orphanet-Italy

@Lithuanian-team : Orphanet-Lithunia

@OrphanetNL: Orphanet-Netherlands

@LeneMartinsen,@Linngb: Orphanet-Norway

@AMPilarczyk-PL: Orphanet-Poland

@Orphanet-PT: Orphanet-Portugal

@Orphanet-ES: Orphanet-Spain

@OrphanetSweden: Orphanet-Sweden

@OrphanetSwitzerland: Orphanet-Switzerland

DISCLAIMER Co-Funded by the European Union. Views and opinions expressed are however those of the author(s) only and do not necessarily reflect those of the European Union or HADEA. Neither the European Union nor the granting authority can be held responsible for them .