No abstract

This study provides support for the feasibility of a "new style" ERA-EDTA registry and the collection of data is now being extended to other countries. The improvement in patient survival over the last two decades has been much greater in transplant recipients than in dialysis patients.

The FAIR principles have been widely cited, endorsed and adopted by a broad range of stakeholders since their publication in 2016. By intention, the 15 FAIR guiding principles do not dictate specific technological implementations, but provide guidance for improving Findability, Accessibility, Interoperability and Reusability of digital resources. This has likely contributed to the broad adoption of the FAIR principles, because individual stakeholder communities can implement their own FAIR solutions. However, it has also resulted in inconsistent interpretations that carry the risk of leading to incompatible implementations. Thus, while the FAIR principles are formulated on a high level and may be interpreted and implemented in different ways, for true interoperability we need to support convergence in implementation choices that are widely accessible and (re)-usable. We introduce the concept of FAIR implementation considerations to assist accelerated global participation and convergence towards accessible, robust, widespread and consistent FAIR implementations. Any self-identified stakeholder community may either choose to reuse solutions from existing implementations, or when they spot a gap, accept the challenge to create the needed solution, which, ideally, can be used again by other communities in the future. Here, we provide interpretations and implementation considerations (choices and challenges) for each FAIR principle.

Rare diseases (RD) patient registries are powerful instruments that help develop clinical research, facilitate the planning of appropriate clinical trials, improve patient care, and support healthcare management. They constitute a key information system that supports the activities of European Reference Networks (ERNs) on rare diseases. A rapid proliferation of RD registries has occurred during the last years and there is a need to develop guidance for the minimum requirements, recommendations and standards necessary to maintain a high-quality registry. In response to these heterogeneities, in the framework of RD-Connect, a European platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research, we report on a list of recommendations, developed by a group of experts, including members of patient organizations, to be used as a framework for improving the quality of RD registries. This list includes aspects of governance, Findable, Accessible, Interoperable and Reusable (FAIR) data and information, infrastructure, documentation, training, and quality audit. The list is intended to be used by established as well as new RD registries. Further work includes the development of a toolkit to enable continuous assessment and improvement of their organizational and data quality.

Background: Over a period of 40 years, SNOMED has developed from a pathology-specific nomenclature (SNOP) into a logic-based health care terminology. In spite of its long existence and continuous evolvement, it is yet unknown to what extent SNOMED is used in clinical practice, and what benefits were achieved. The aim of this paper is to investigate this by providing an overview of published studies in which a version of SNOMED was studied or applied.Methods: This paper analyzes the use of SNOMED over time, as reflected in scientific publications, by means of Medline literature search in PubMed. The search included papers from 1966 until June 2006. For each selected paper the following characteristics were classified: version, medical domain, coding moment (during or after the care process), usage, and type of evaluation (e.g., does SNOMED work, does SNOMED help).Results: 250 papers were included in this research. The number of annual publications has increased, as has the number of domains in which SNOMED is being used. Theoretical studies mainly concern comparison of SNOMED to other terminological systems and SNOMED as an illustration of a terminological systems' theory. Few studies are available on the usage of SNOMED in clinical practice, largely involving coding information and retrieval/aggregation based on SNOMED codes. Conclusion:The clinical application of SNOMED is broadening beyond pathology. The majority of studies concern proving the value of SNOMED in theory. Fewer studies are available on the usage of SNOMED in clinical practice. Literature gives no indication of the use of SNOMED for direct care purposes such as decision support.

In this paper we study the diagnosis and repair of incoherent terminologies. We define a number of new nonstandard reasoning services to explain incoherence through pinpointing, and we present algorithms for all of these services. For one of the core tasks of debugging, the calculation of minimal unsatisfiability preserving subterminologies, we developed two different algorithms, one implementing a bottom-up approach using support of an external description logic reasoner, the other implementing a specialized tableau-based calculus. Both algorithms have been prototypically implemented. We study the effectiveness of our algorithms in two ways: we present a realistic case study where we diagnose a terminology used in a practical application, and we perform controlled benchmark experiments to get a better understanding of the computational properties of our algorithms in particular and the debugging problem in general.

The majority of studies focused on 'theoretical' and 'pre-development/design'. This is still encouraging as SNOMED CT is being harmonized with other standardized terminologies and is being evaluated to determine the content coverage of local terms, which is usually one of the first steps towards adoption. Most implementations are not published in the scientific literature, requiring a look beyond the scientific literature to gain insights into SNOMED CT implementations.

The Systematised Nomenclature of Medicine Clinical Terms (SNOMED CT) has been designated as the recommended clinical reference terminology for use in clinical information systems around the world and is reported to be used in over 50 countries. However, there are still few implementation details. This study examined the implementation of SNOMED CT in terms of design, use and maintenance issues involved in 13 healthcare organisations across eight countries through a series of interviews with 14 individuals. While a great deal of effort has been spent on developing and refining SNOMED CT, there is still much work ahead to bring SNOMED CT into routine clinical use.