… Representation of rare diseases in Orphanet encompasses levels of increasing … rare
diseases are represented in Orphanet, as well as the reasons for knowledge representation…

… database have an endorsed representation in the foundation … , with a poly-hierarchy
approach, each clinical entity being … viewed on the Orphanet website and have served as a basis …

… Orphanet disease with genetic and phenotypic information available from OMIM and HPO to
provide a richer presentation of the disease. … From the web service standpoint, all data of all …

… systems to support the diagnosis of rare diseases. We included in this review all publications
using fully automated approaches … acquired knowledge and simple representation, such as …

… adopted by the rare disease (RD) community: Orphanet, its … is already multi-lingual, however
its ontological representation … We will generate a modular integration approach of ORDO …

… The PDF documents hosted on the Orphanet server thus represented the oldest … Orphanet
database that can serve various stakeholders and purposes. It can be used to identify medical …

… both as a social service and a medical service, which provides … Orphanet also maintains
the Orphanet rare disease … rare diseases in health and research information systems. More …

… 000) represent a variable number of rare disease patients … burden of disease, and can thus
inform focused service delivery … of data from health information systems. Underrepresentation …

… representing the diversity of the patients' clinical information. Such … , and Orphanet, and they
enrich them with ontologies. … are rarely integrated into the hospital information system for use …

… quality and representation of rare diseases. They thus form the … for Rare Diseases containing
information from the Orphanet … rare disease diagnosis coding in health information systems. …