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2. Why an ORPHAcode is not available in my System?
N.B. the ORPHAcode you are looking for existed and you cannot find it anymore, please check: Why can't I find an ORPHAcode anymore?
IS THE CODE AVAILABLE ON THE ORPHANET WEBSITE?
Yes : If your health information system has been updated with the latest release of the Orphanet Nomenclature pack this means that the ORPHAcode was created in between this last release and it will be available in the next release of the Orphanet Nomenclature Pack. => it will only be available in your system when it is updated with the next annual release, check if you have a solution in place to trace this info (i.e. free text section in your system or other solution) If your system is not using the most recent Nomenclature Pack: it is recommended to update the system with the annual release of the nomenclature pack to stay updated and to ensure comparability=> if after update with the most recent nomenclature Pack the code is not available yet, please see above
No : The ORPHAcode/entity is not available in the system nor in Orphanet: please submit an creation demand for evaluation (see FAQ How can I submit an ORPHAcode creation demand??)
The Orphanet nomenclature of Rare Diseases evolves continuously according to knowledge . Three situations can explain the removal of an ORPHAcode from the Orphanet nomenclature (i.e. inactivation):
• The clinical entity is no longer rare in Europe; (In the EU, a rare disease, is one that affects no more than 1 person in 2,000).
• Two clinical entities initially separately described are now recognized as a unique entity. One of the ORPHAcode is deprecated, the second is kept in the nomenclature. Orphanet stores this relationship for a better traceability;
• The clinical entity has been obsoleted (in case of duplicates or for categories that are not used anymore to organize the Orphanet classifications). Whenever possible, Orphanet suggests an ORPHAcode in use in replacement.
N.B. Only Active codes should be used to trace RD diagnosis, however the inactive ORPHAcodes are still available in the Orphanet nomenclature pack along with the ORPHAcode suggested in replacement (when available). Technically it is therefore possible that the system proposes you the replacement code (depending on what information from the nomenclature pack has been implemented into your system)