Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users

Hum Mutat. 2012 May;33(5):803-8. doi: 10.1002/humu.22078. Epub 2012 Apr 6.


Rare disorders are scarcely represented in international classifications and therefore invisible in information systems. One of the major needs in health information systems and for research is to share and/or to integrate data coming from heterogeneous sources with diverse reference terminologies. ORPHANET ( is a multilingual information portal on rare diseases and orphan drugs. Orphanet information system is supported by a relational database built around the concept of rare disorders. Representation of rare diseases in Orphanet encompasses levels of increasing complexity: lexical (multilingual terminology), nosological (multihierarchical classifications), relational (annotations-epidemiological data-and classes of objects-genes, manifestations, and orphan drugs-integrated in a relational database), and interoperational (semantic interoperability). Rare disorders are mapped to International Classification of Diseases (10th version), SNOMED CT, MeSH, MedDRA, and UMLS. Genes are cross-referenced with HGNC, UniProt, OMIM, and Genatlas. A suite of tools allow for extraction of massive datasets giving different views that can be used in bioinformatics to answer complex questions, intended to serve the needs of researchers and the pharmaceutical industry in developing medicinal products for rare diseases. An ontology is under development. The Orphanet nomenclature is at the crossroads of scientific data repositories and of clinical terminology standards, and is suitable to be used as a standard terminology.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Databases, Factual
  • Humans
  • Information Dissemination
  • Online Systems*
  • Rare Diseases* / classification
  • Terminology as Topic