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

Abstract

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 (www.orpha.net) 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.

Rare diseases in clinical endocrinology: a taxonomic classification system

“…The nomenclature for disease acronyms used is the one approved by the Gene Nomenclature Committee belonging to the Human Genome Organization (HUGO-HGNC) [22]. For non-genetically determined REMD, Orphanet nomenclature has been used [23].…”

“…Fibroblast growth factor 23 Rare endocrine-metabolic diseases (REMD) represent an important area in the field of medicine and pharmacology and constitute a major challenge for the clinical endocrinologist. Indeed, adult endocrinologists have to constantly face and/or rule out rare diseases in the differential diagnoses of clinical endocrine disorders more than any other medical specialist outside the pediatric field.…”

General resources in Genetics and/or Oncology

“…They also provide grants to academic scientists for translational or clinical studies to help patients obtain life-saving or life-sustaining medication they could not otherwise afford. Orphanet (http://www.orpha.net/) Orphanet (Rath et al, 2012) offers an inventory of rare diseases with data on 5,833 diseases (e.g. Fanconi anaemia), an inventory of orphan drugs, list of 6,636 expert centres and 3,280 laboratories, 19,894 professionals for genetic counselling and medical management.…”

Current trends in biobanking for rare diseases: a review

“…Orphanet, an international consortium that provides a reference portal for RD, has developed a comprehensive coding system for RD called Orphacodes, 37,68 that is intended to be adopted in the ICD-11, due to be released in 2017. The Orphanet classification of RD has adopted a clinical approach by following the organization of medical specialties.…”