… National information system for rare diseases with an approach to data architecture: a …
Representation of rare diseases in health information systems: the Orphanet approach to serve a …

… a rare disease previously seen at the institution. A combination of the different approaches
… Der Grundstein hierzu wurde durch das europäische Projekt Orphanet gelegt, das seit 1997 …

… represent rare disease concepts, and their associated … an automatic approach to mapping
between rare disease information … Our results for Orphanet (50%) further support the finding of …

… About 7,000 rare diseases are listed in the Orphanet … Step 5: Functional specifications of
a web service for the online … It collates a patient record in a standardized representation. On …

… of Internet information systems. Already existing Internet … believed to represent considerable
variety in rare diseases. … Orphanet J Rare Dis 2013;8:76 [FREE Full text] [CrossRef] […

… With this categorisation, we standardised the presentation of common solutions to avoid the
… wide FAIRification and serve as valuable information for decision-making at the project level. …

… disease curation, but also serve as a resource to the public. … number of rare diseases are
accurately represented with … To compare equitably, we excluded Orphanet entries with expert …

… Rare disease registries represent a core element for effective … The lack of information systems׳
standards to implement a flexible … In anticipation of the adoption of ICD-11 Orphanet, an …

… diseases, presentation of disease-linked genetic variants and epidemiological information.
We … We propose and elaborate future applications of PhenoDis for diagnostic approaches. …

… One valuable approach for improving medical care for rare disease patients are … about rare
diseases so that healthcare providers can easily access and exchange relevant information. …