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sylmaiOR edited this page Jun 27, 2025
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To provide a sustainable and homogeneous, standardised support to the Rare Diseases community, a ‘Questions and Answers’ section within GitHub has been developed by the coordinating team based on users’ questions and issues. It aimed to provide standardised and generalised answers among 12 main topics:
Orphanet Nomenclature of Rare Diseases- ORPHAcodes,
Why an ORPHAcode is not available in my system?
The Orphanet classification,
Alignments with other terminologies,
Good practice Guidelines on Orphanet Nomenclature
Orphanet Tools for coders,
Education and Communication,
Orphanet - ERN collaborations
Guidance documents for ORPHAcoding implementation and exploitation
ORPHAcodes Technical Implementation
Why using the Orphanet Nomenclature of RD (ORPHAcodes) to trace RD diagnosis?