Deliverables

Del Name Description
1.1 KOM Executive summary This executive summary will include all items discussed during the meeting/workshop, as well as the agreed work plan. It will be delivered as a pdf in English (30 March 2022)
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1.2 Dissemination plan A Dissemination plan detailing all the material that will be made available to disseminate project results, the planned events for the project dissemination. It will be delivered as a pdf in English. (30 March 2022)
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1.3 Evaluation Report This report will contain (1) the analysis of all relevant, task-related indicators as outlined in section (“Specific objectives of the action”), methods and means, as well as (2) the analysis of the KPI and of the planned intended satisfaction surveys. It will be delivered as a pdf in English. (30 December 2022)
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2.1 Publication of a standardised methodology for the revision of the nomenclature in collaboration with networks of expertise. This document will formalise the standard methodology established for the collaboration with ERNs and other networks of expertise on the revision of classification groups. It will be published on the Orphanet website. (30 June 2022)
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2.2 Global report on Orphanet-ERN collaborations Written summary report of completed and ongoing collaborations with ERNs for the concerned period of reporting. Will provide an overview of the number of projects and the groups of diseases they covered, the ERNs involved (and more precisely the thematic groups within the ERNs when pertinent), the issues raised and lessons learned (especially those that may benefit other ERN projects). Will also include annexes containing the lists of entities revised (by activity). (30 December 2022)
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3.1 Report on Genetic Annotations (new and updated gene-disease relationships), ORPHAcodes alignments with other terminologies, and newly produced or updated texts (definitions and abstracts) Report document will contain 3 sections: New discoveries around genes related to RD and their representation in the Oprhanet database, with links to where these relationships are avialble for reuse.; RD coverage in target terminologies and the relationships between ORPHAcodes to each of the target terminologies, with links to where this alignments are available for reuse- list of newly produced definitions and of newly produced or updated RD summary information realised in collaboration with ERNs (30 December 2022)
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4.1 State of play survey A report compiled from the survey on the state of play will be delivered as pdf document on the projects website. This may include a description of the structure of each national hub. (30 March 2022)
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4.2 Action plans National action plans, based on the state of play in the country, have been written and are provid --------- ed as pdf document to the executive comittee (ExCom) BfArM has collected reports from all national hubs and compiled them for the ExCom in a pdf document (30 October 2022)
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4.3 Report on lessons learned In a final meeting and with the compilation from the FAQ-collections a report on lessons learned will be delivered as pdf document. This report shall be used by other countries starting to implement Orphacodes. The list of FAQs can be used to enhance the Orphanet website (30 November 2022)
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5.1 User’s feedbacks and Ticketing platform setup Setup & configuration of Github repositories and Organisation. Ticketing workflow. Dedicated webpages to explain the methodology (30 March 2022)
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5.2 Report on disease coverage by ERNs Report on the analysis of disease coverage by ERN centres, including complementarities (overlpas) ang gaps in terms of disease fields that would need decisions to be covered. Document in English. (30 December 2022)
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5.3 Dedicated APIs Dataset avaibility through developped API.Including OpenAPI specification (contract first API design). Specification delivered M4, Finalised APIs M12. API gateway access management from M4 until M12 (30 December 2022)