The Orphanet nomenclature is a multilingual, standardised, controlled medical terminology specific to rare diseases.
Each clinical entity is associated with a unique numerical identifier named ORPHAcode, that provides a common language across healthcare and research systems for effective monitoring and reporting on rare diseases.
- Organised in a multi-hierarchical and polyparental classification, structured by medical specialty according to diagnostic and therapeutic relevance.
- Provides information on every gene related to a rare disorder.
- Defines the relationship between genes and their related rare disorders.
- Provides the evidence for establishing these gene-disorder relationships
The ORPHADATA has been translated into many languages including English, Dutch, French, German, Italian, Portuguese, Spanish, Polish and Czech.
More information at ORPHADATA.