The Orphanet nomenclature is a multilingual, standardised, controlled medical terminology specific to rare diseases, that includes all clinical entities registered in the Orphanet knowledge base. Each clinical entity (disorder, group of disorders, or subtype of a disorder) is associated with a unique numerical identifier named an ORPHAcode, as well as a preferred term, synonyms, and a definition. Clinical entities are also aligned with ICD-10, ICD-11, SNOMED-CT and OMIM when relevant, and the mappings are qualified according to their precision and specificity. The Orphanet Nomenclature of rare diseases is produced according to standard procedures.
This tool allows users to search for rare clinical entities and displays the corresponding mapping in the above-mentioned terminologies.
Results include the characterisation of the alignment relationship, with a cardinality from ORPHAcode to the target terminology. If no mapping is available or the entity is not present in the current nomenclature pack, the tool will show a pop-up message to inform the user. Results can be downloaded as .csv or .xls. For further information, you can consult the user guide.
Three search options are possible:
- Simple search: enter the ORPHAcode of the desired entity in the search bar.
- Advanced search: search by label (preferred term or synonym fields) and/or by free text (definition field). You can refine your query by selecting a target terminology. You can also use the drop-down menu to enter a reference in the dedicated field and filter by level of mapping relationship.
- Multiple queries from a search file: this function allows you to obtain a set of results by uploading an input file in a suitable format (see the Help button for more details). An example of input file is also provided.
The mappings browser is updated yearly in July according to the content of the most recent Orphanet nomenclature pack.
If you have any questions about tools, you can read ” Guidance for ORPHAcoding implementation and exploitation” or post an issue on our Github Tracker issue.
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
