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.

Terminología ORPHA

  • 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.

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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.

Terminología ORPHA

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