What do identifiers in HL7 identify? An essay in the ontology of identity

Health Level 7 (HL7) is an organization seeking to provide universal standards for the exchange of healthcare information. In a document entitled ‘HL7 Version 3 Standard: Data Types’, the HL7 organization advances descriptions of data types recom- mended for use as identifiers. We will argue that the descriptions supplied provide insufficient guidance as to what exactly the entities are which these data types uniquely identify. Are they real things, such as persons or pieces of equipment? Or are they representations of such real things in information artifacts? We here outline the problems faced by HL7 in providing answers to such questions, problems which arise because of the lack of anything like a coherent ontology in the HL7 standard, and we make some recommendations for future improvements

Clinical data wrangling using Ontological Realism and Referent Tracking

Ontological realism aims at the development of high quality ontologies that faithfully represent what is general in reality and to use these ontologies to render heterogeneous data collections comparable. To achieve this second goal for clinical research datasets presupposes not merely (1) that the requisite ontologies already exist, but also (2) that the datasets in question are faithful to reality in the dual sense that (a) they denote only particulars and relationships between particulars that do in fact exist and (b) they do this in terms of the types and type-level relationships described in these ontologies. While much attention has been devoted to (1), work on (2), which is the topic of this paper, is comparatively rare. Using Referent Tracking as basis, we describe a technical data wrangling strategy which consists in creating for each dataset a template that, when applied to each particular record in the dataset, leads to the generation of a collection of Referent Tracking Tuples (RTT) built out of unique identifiers for the entities described by means of the data items in the record. The proposed strategy is based on (i) the distinction between data and what data are about, and (ii) the explicit descriptions of portions of reality which RTTs provide and which range not only over the particulars described by data items in a dataset, but also over these data items themselves. This last feature allows us to describe particulars that are only implicitly referred to by the dataset; to provide information about correspondences between data items in a dataset; and to assert which data items are unjustifiably or redundantly present in or absent from the dataset. The approach has been tested on a dataset collected from patients seeking treatment for orofacial pain at two German universities and made available for the NIDCR-funded OPMQoL project

Introducing realist ontology for the representation of adverse events

The goal of the REMINE project is to build a high performance prediction, detection and monitoring platform for managing Risks against Patient Safety (RAPS). Part of the work involves developing in ontology enabling computer-assisted RAPS decision support on the basis of the disease history of a patient as documented in a hospital information system. A requirement of the ontology is to contain a representation for what is commonly referred to by the term 'adverse event', one challenge being that distinct authoritative sources define this term in different and context-dependent ways. The presence of some common ground in all definitions is, however, obvious. Using the analytical principles underlying Basic Formal Ontology and Referent Tracking, both developed in the tradition of philosophical realism, we propose a formal representation of this common ground which combines a reference ontology consisting exclusively of representations of universals and an application ontology which consists representations of defined classes. We argue that what in most cases is referred to by means of the term 'adverse event' - when used generically - is a defined class rather than a universal. In favour of the conception of adverse events as forming a defined class are the arguments that (1) there is no definition for 'adverse event' that carves out a collection of particulars which constitutes the extension of a universal, and (2) the majority of definitions require adverse events to be (variably) the result of some observation, assessment or (absence of) expectation, thereby giving these entities a nominal or epistemological flavour

Negative findings in electronic health records and biomedical ontologies: a realist approach

PURPOSE—A substantial fraction of the observations made by clinicians and entered into patient records are expressed by means of negation or by using terms which contain negative qualifiers (as in “absence of pulse” or “surgical procedure not performed”). This seems at first sight to present problems for ontologies, terminologies and data repositories that adhere to a realist view and thus reject any reference to putative non-existing entities. Basic Formal Ontology (BFO) and Referent Tracking (RT) are examples of such paradigms. The purpose of the research here described was to test a proposal to capture negative findings in electronic health record systems based on BFO and RT. METHODS—We analysed a series of negative findings encountered in 748 sentences taken from 41 patient charts. We classified the phenomena described in terms of the various top-level categories and relations defined in BFO, taking into account the role of negation in the corresponding descriptions. We also studied terms from SNOMED-CT containing one or other form of negation. We then explored ways to represent the described phenomena by means of the types of representational units available to realist ontologies such as BFO. RESULTS—We introduced a new family of ‘lacks’ relations into the OBO Relation Ontology. The relation lacks_part, for example, defined in terms of the positive relation part_of, holds between a particular p and a universal U when p has no instance of U as part. Since p and U both exist, assertions involving ‘lacks_part’ and its cognates meet the requirements of positivity. CONCLUSION—By expanding the OBO Relation Ontology, we were able to accommodate nearly all occurrences of negative findings in the sample studied

Towards a Reference Terminology for Ontology Research and Development in the Biomedical Domain

Ontology is a burgeoning field, involving researchers from the computer science, philosophy, data and software engineering, logic, linguistics, and terminology domains. Many ontology-related terms with precise meanings in one of these domains have different meanings in others. Our purpose here is to initiate a path towards disambiguation of such terms. We draw primarily on the literature of biomedical informatics, not least because the problems caused by unclear or ambiguous use of terms have been there most thoroughly addressed. We advance a proposal resting on a distinction of three levels too often run together in biomedical ontology research: 1. the level of reality; 2. the level of cognitive representations of this reality; 3. the level of textual and graphical artifacts. We propose a reference terminology for ontology research and development that is designed to serve as common hub into which the several competing disciplinary terminologies can be mapped. We then justify our terminological choices through a critical treatment of the ‘concept orientation’ in biomedical terminology research

Ontology as the core discipline of biomedical informatics: Legacies of the past and recommendations for the future direction of research

The automatic integration of rapidly expanding information resources in the life sciences is one of the most challenging goals facing biomedical research today. Controlled vocabularies, terminologies, and coding systems play an important role in realizing this goal, by making it possible to draw together information from heterogeneous sources – for example pertaining to genes and proteins, drugs and diseases – secure in the knowledge that the same terms will also represent the same entities on all occasions of use. In the naming of genes, proteins, and other molecular structures, considerable efforts are under way to reduce the effects of the different naming conventions which have been spawned by different groups of researchers. Electronic patient records, too, increasingly involve the use of standardized terminologies, and tremendous efforts are currently being devoted to the creation of terminology resources that can meet the needs of a future era of personalized medicine, in which genomic and clinical data can be aligned in such a way that the corresponding information systems become interoperable

Referent tracking for corporate memories

For corporate memory and enterprise ontology systems to be maximally useful, they must be freed from certain barriers placed around them by traditional knowledge management paradigms. This means, above all, that they must mirror more faithfully those portions of reality which are salient to the workings of the enterprise, including the changes that occur with the passage of time. The purpose of this chapter is to demonstrate how theories based on philosophical realism can contribute to this objective. We discuss how realism-based ontologies (capturing what is generic) combined with referent tracking (capturing what is specific) can play a key role in building the robust and useful corporate memories of the future

Updating Electronic Health Records with Information from Sensor Systems: Considerations Relating To Standards and Architecture Arising From the Development of a Prototype System

Several countries around the globe are moving towards national and international standards for Electronic Health Records (EHRs). One function of the standards is to guide the long-term convergence of local systems into integrated evolving national health information systems. The Australian commonwealth government is implementing a nationwide EHR system whereby every Australian will be able to upload data to his or her EHR. Thus Australians, if they wish, will eventually be able to upload data from on-body sensors and in-home monitoring systems to their EHRs. This article explores issues associated with the architecture of systems which allow medical records to be updated with information from monitoring/sensor systems. A prototype was developed to determine some of the key architectural considerations. A sensor simulator was implemented for testing purposes which allows a user of the simulator to impersonate a bed or group of in-home or on-body sensors connected with a person who is in a hospital, retirement home or private home. Findings are discussed relating to key architectural considerations including security, maintainability and modularity

Referent Tracking: The Problem of Negative Findings

The paradigm of referent tracking is based on a realist presupposition which rejects so-called negative entities (congenital absent nipple, and the like) as spurious. How, then, can a referent tracking-based Electronic Health Record deal with what are standardly called ‘negative findings’? To answer this question we carried out an analysis of some 748 sentences drawn from patient charts and containing some form of negation. Our analysis shows that to deal with these sentences we need to introduce a new ontological relationship between a particular and a universal, which holds when no instance of the universal has a specific qualified ontological relation with the particular. This relation is found to be able to accommodate nearly all occurrences of negative findings in the examined sample, in ways which involve no reference to negative entities

PubMed-supported clinical term weighting approach for improving inter-patient similarity measure in diagnosis prediction

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