What is ORPHANET?
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.
What is ORPHANET?
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.
Why ORPHANET?
