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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 11 main topics:
- Orphanet Nomenclature of Rare Diseases -ORPHAcodes
- Why an ORPHAcode is not available in my System?
- Orphanet classification
- Alignments with other terminologies
- Good practice guidelines on Orphanet Nomenclature
- Orphanet Tools for coders
- Education and Communication
- Orphanet - ERN collaborations
- ORPHAcodes Technical Implementation
- Guidance documents for ORPHAcoding implementation and exploitation
- Why using the Orphanet Nomenclature of RD (ORPHAcodes) to trace RD diagnosis?
