SEMANTIC MODELLING OF COMMON DATA ELEMENTS FOR RARE DISEASE REGISTRIES, AND A PROTOTYPE WORKFLOW FOR THEIR DEPLOYMENT OVER REGISTRY DATA

Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data

Abstract Background The European Platform on Rare Disease Registration (EU RD Platform) aims to address the fragmentation of European rare disease (RD) patient data, scattered among hundreds of independent and non-coordinating registries, by establishing standards for integration and interoperability.The first practical output of this effort was a

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Four cases, one syndrome: Gardner-Diamond syndrome

Gardner-Diamond syndrome (GDS) is a condition characterized by the appearance of unexplained ecchymosis 5 Piece Outdoor Seating on the skin.Other common symptoms include gastrointestinal complaints, such as abdominal pain and vomiting, as well as complaints about the nervous and musculocutaneous systems.We typically diagnose GDS by ruling out other

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The irrational hungry judge effect revisited: Simulations reveal that the magnitude of the effect is overestimated

Danziger, Levav and Avnaim-Pesso (2011) analyzed legal rulings of Israeli parole boards concerning the effect of serial order in which cases are presented within ruling sessions.They found that the probability of a favorable decision drops from about 65% to almost 0% from the first ruling to the last ruling within each session and that the rate of

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