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Background The 10th and 9th revisions of the International Statistical Classification of Diseases and Related Health Problems (ICD10 and ICD9) have been adopted worldwide as a well-recognized norm to share codes for diseases, signs and symptoms, abnormal findings, etc. The international Consortium for Clinical Characterization of COVID-19 by EHR (4CE) website stores diagnosis COVID-19 disease data using ICD10 and ICD9 codes. However, the ICD systems are difficult to decode due to their many shortcomings, which can be addressed using ontology. Methods An ICD ontology (ICDO) was developed to logically and scientifically represent ICD terms and their relations among different ICD terms. ICDO is also aligned with the Basic Formal Ontology (BFO) and reuses terms from existing ontologies. As a use case, the ICD10 and ICD9 diagnosis data from the 4CE website were extracted, mapped to ICDO, and analyzed using ICDO. Results We have developed the ICDO to ontologize the ICD terms and relations. Different from existing disease ontologies, all ICD diseases in ICDO are defined as disease processes to describe their occurrence with other properties. The ICDO decomposes each disease term into different components, including anatomic entities, process profiles, etiological causes, output phenotype, etc. Over 900 ICD terms have been represented in ICDO. Many ICDO terms are presented in both English and Chinese. The ICD10/ICD9-based diagnosis data of over 27,000 COVID-19 patients from 5 countries were extracted from the 4CE. A total of 917 COVID-19-related disease codes, each of which were associated with 1 or more cases in the 4CE dataset, were mapped to ICDO and further analyzed using the ICDO logical annotations. Our study showed that COVID-19 targeted multiple systems and organs such as the lung, heart, and kidney. Different acute and chronic kidney phenotypes were identified. Some kidney diseases appeared to result from other diseases, such as diabetes. Some of the findings could only be easily found using ICDO instead of ICD9/10. Conclusions ICDO was developed to ontologize ICD10/10 codes and applied to study COVID-19 patient diagnosis data. Our findings showed that ICDO provides a semantic platform for more accurate detection of disease profiles.

The World Health Organization (WHO) indicates that the proportion of the elderly will soon include nearly a quarter of the world population. Ensuring that health systems are prepared to deal with this phenomenal rate of aging and associated diseases generates many challenges. Among these challenges is facing Alzheimer’s Disease (AD) that may occur at some point in the elderly life and may harm societies. AD is considered a neurological, psychological, mental, and health setback. The Clinical Decision Support System (CDSS) can improve patient care and support many medical functions, such as diagnosing diseases that can reduce preventable harm. This research’s main objective is to design, implement, and evaluate the Alzheimer’s Disease Diagnosis Ontology (ADDO). It is a comprehensive semantic knowledge base toward the development of fuzzy ontology-based CDSS for AD diagnosis. ADDO can serve as a core component of CDSS, which provides representation, annotation, and access to aspects related to AD’s study and diagnosis. Toward the management of this objective, ADDO is based on the essentials of the Open Biomedical Ontology (OBO) and follows the Basic Formal Ontology (BFO) and the Ontology for General Medical Sciences (OGMS) principles. ADDO focuses on representing the patient characteristics, complications, drugs, diagnosis examination tests, and key aspects of their periodic visits in a standard way. The possibility of semantic interoperability is taken into account by integrating ADDO and a heterogeneous AD dataset. We used ADNI as a case study to mapping a set of real instances. To manage the medical domain’s uncertainty, ADDO is extended to fuzzy ontology to accommodate the medical linguistic variables and enhance diagnosis results’ efficiency. ADDO is constructed using Protege 5.5.0 software and evaluated using the HermiT reasoner and SPARQL semantic queries. ADDO currently includes 7060 concepts, 99 properties, 46274 axioms, and 30708 annotations. As a result, ADDO is consistent and more reliable in managing most AD aspects than other existing AD ontologies.

Managing complex disaster situations is a challenging task because of the large number of actors involved and the critical nature of the events themselves. In particular, the different terminologies and technical vocabularies that are being exchanged among Emergency Responders (ERs) may lead to misunderstandings. Maintaining a shared semantics for exchanged data is a major challenge. To help to overcome these issues, we elaborate a modular suite of ontologies called POLARISCO that formalizes the complex knowledge of the ERs. Such a shared vocabulary resolves inconsistent terminologies and promotes semantic interoperability among ERs. In this work, we discuss developing POLARISCO as an extension of Basic Formal Ontology (BFO) and the Common Core Ontologies (CCO). We conclude by presenting a real use-case to check the efficiency and applicability of the proposed ontology.

We present a machine-readable movement writing for sleight-of-hand moves with cards -- a "Labanotation of card magic." This scheme of movement writing contains 440 categories of motion, and appears to taxonomize all card sleights that have appeared in over 1500 publications. The movement writing is axiomatized in $\mathcal{SROIQ}$(D) Description Logic, and collected formally as an Ontology of Card Sleights, a computational ontology that extends the Basic Formal Ontology and the Information Artifact Ontology. The Ontology of Card Sleights is implemented in OWL DL, a Description Logic fragment of the Web Ontology Language. While ontologies have historically been used to classify at a less granular level, the algorithmic nature of card tricks allows us to transcribe a performer's actions step by step. We conclude by discussing design criteria we have used to ensure the ontology can be accessed and modified with a simple click-and-drag interface. This may allow database searches and performance transcriptions by users with card magic knowledge, but no ontology background., Comment: 8 pages. Preprint. Final version appeared in ICSC 2019. Copyright of final version is held by IEEE

Ontologies are being used in many areas of science to improve clarity and communication of research methods, findings and theories. Many of these ontologies use an upper level ontology called Basic Formal Ontology (BFO) as their frame of reference. This article summarises Basic Formal Ontology and shows how it can provide a basis for development of an Addiction Ontology that encompasses all the things that addiction researchers, practitioners and policy makers want to refer to. BFO makes a fundamental distinction between what it calls continuants (e.g. objects and their characteristics) and occurrents (e.g. processes). Classifying addiction-related entities using this system enables important distinctions to be made that are frequently overlooked or confused in the literature due to inherent ambiguities in natural language expressions. The Addiction Ontology uses this framework to convey information about: people and populations and their characteristics (e.g. substance use disorder), products (e.g. heroin, tobacco-containing products), behaviours (e.g. cigarette smoking, alcohol consumption), interventions (e.g. detoxification, rehabilitation, legislation), research (e.g. measurement, theories, study designs), organisations (e.g. pharmaceutical industry, tobacco companies), and settings (e.g. hospital outpatient clinic, country).

The promise of distributed cloud manufacturing (CM) is to manufacture products using shared resources, both asset-full (machines, tools, vehicles) and asset-light (design, analysis, inspection, management, maintenance), which can be provisioned flexibly and rapidly with minimal management and service provider interaction. One of the key enabler of CM are virtual enterprises (VE), which offer manufacturing resources as virtual services (SaaS, HaaS, PaaS) in a cloud based marketplace. Currently, virtualization and provisioning of diverse array of manufacturing resources face challenges from the heterogeneity in representation and communication protocols, as well as lack of integration with legacy practices in the organizations. Aiming to increase interoperability, a number of formal ontologies were developed by researchers in the past, to leverage on semantic data integration and validation. In spite of their success in providing axiomatic description and common taxonomy to classify manufacturing resources from different domains, models of representing the capabilities of the resources (i.e. expected quality of services they offer) were often overlooked. In this research, we present an ontology model to represent capabilities of manufacturing machine-tools at the process level, often called process boundaries (measured by process capability index) in industries. The definition of the capability is derived based on the foundational ontology called ‘Basic Formal Ontology’ (BFO). The primary contribution of this extension is a set of OWL axioms which can be used to assert facts about modal future (possibilia) – ultimately enabling us to associate process specific performance metrics to the semantic models of virtual machine-tools.

The goal of implementing an enterprise digital engineering strategy is to improve data sharing throughout system conceptualization, development, manufacturing, operations, sustainment and their supporting organizations. Data sharing is a critical element of interoperability of models and other digital artifacts supporting the systems engineering process. Achieving interoperability within systems engineering requires eliminating differences of syntax and semantics to take advantage of automation, augmentation, and artificial intelligence capabilities that will increase process efficiency and artifact quality. This paper describes the development of a process-centric Systems Engineering (SE) reference ontology, based upon ISO/IEC/IEEE 15288 Systems and Software Engineering – Life Cycle Processes [1]. The proposed SE reference ontology extends from the Basic Formal Ontology (BFO), which is a very small top-level ontology (TLO) designed specifically to support the integration of more specific ontologies that extend from it [2]. A reference ontology is intended to provide a comprehensive representation of the entities in a given domain encapsulating the terminological content of established knowledge. Unlike other systems ontologies, which focus on the target systems, this reference ontology is focused on the systems engineering process, providing context and purpose for the digital artifacts being built and linking the content of artifacts together into one lexicon.

Purpose This study aims to explore a way of representing historical collections by examining the features of an event in historical documents and building an event-based ontology model. Design/methodology/approach To align with a domain-specific and upper ontology, the Basic Formal Ontology (BFO) model is adopted. Based on BFO, an event-based ontology for historical description (EOHD) is designed. To define events, event-related vocabularies are taken from the Library of Congress’ event types (2012). The three types of history and six kinds of changes are defined. Findings The EOHD model demonstrates how to apply the event ontology to biographical sketches of a creator history to link event types. Research limitations/implications The EOHD model has great potential to be further expanded to specific events and entities through different types of history in a full set of historical documents. Originality/value The EOHD provides a framework for modeling and semantically reforming the relationships of historical documents, which can make historical collections more explicitly connected in Web environments.

Systematized Nomenclature of Medicine—Clinical Terms (SNOMED CT, hereafter abbreviated SCT) is a comprehensive medical terminology used for standardizing the storage, retrieval, and exchange of electronic health data. Some efforts have been made to capture the contents of SCT as Web Ontology Language (OWL), but these efforts have been hampered by the size and complexity of SCT. Our proposal here is to develop an upper-level ontology and to use it as the basis for defining the terms in SCT in a way that will support quality assurance of SCT, for example, by allowing consistency checks of definitions and the identification and elimination of redundancies in the SCT vocabulary. Our proposed upper-level SCT ontology (SCTO) is based on the Ontology for General Medical Science (OGMS). The SCTO is implemented in OWL 2, to support automatic inference and consistency checking. The approach will allow integration of SCT data with data annotated using Open Biomedical Ontologies (OBO) Foundry ontologies, since the use of OGMS will ensure consistency with the Basic Formal Ontology, which is the top-level ontology of the OBO Foundry. Currently, the SCTO contains 304 classes, 28 properties, 2400 axioms, and 1555 annotations. It is publicly available through the bioportal at . The resulting ontology can enhance the semantics of clinical decision support systems and semantic interoperability among distributed electronic health records. In addition, the populated ontology can be used for the automation of mobile health applications.

A conceptual model abstractly defines a number of concepts and their relationships for the purposes of understanding and communication. Once a conceptual model is available, it can also be used as a starting point for the development of a software system. The development of conceptual models using the Unified Modeling Language (UML) facilitates the representation of modeled concepts and allows software developers to directly reuse these concepts in the design of a software system. The OBO Foundry represents the most relevant collaborative effort towards the development of ontologies in the biomedical domain. The development of UML conceptual models in the biomedical domain may benefit from the use of domain-specific semantics and notation. Further, the development of these models may also benefit from the reuse of knowledge contained in OBO ontologies. This paper investigates the support for the development of conceptual models in the biomedical domain using UML as a conceptual modeling language and using the support provided by the OBO Foundry for the development of biomedical ontologies, namely entity kind and relationship types definitions provided by the Basic Formal Ontology (BFO) and the OBO Core Relations Ontology (OBO Core), respectively. Further, the paper investigates the support for the reuse of biomedical knowledge currently available in OBOFFF ontologies in the development these conceptual models. The paper describes a UML profile for the OBO Core Relations Ontology, which basically defines a number of stereotypes to represent BFO entity kinds and OBO Core relationship types definitions. The paper also presents a support toolset consisting of a graphical editor named OBO-RO Editor, which directly supports the development of UML models using the extensions defined by our profile, and a command-line tool named OBO2UML, which directly converts an OBOFFF ontology into a UML model.

Background Treatment of type 2 diabetes mellitus (T2DM) is a complex problem. A clinical decision support system (CDSS) based on massive and distributed electronic health record data can facilitate the automation of this process and enhance its accuracy. The most important component of any CDSS is its knowledge base. This knowledge base can be formulated using ontologies. The formal description logic of ontology supports the inference of hidden knowledge. Building a complete, coherent, consistent, interoperable, and sharable ontology is a challenge. Results This paper introduces the first version of the newly constructed Diabetes Mellitus Treatment Ontology (DMTO) as a basis for shared-semantics, domain-specific, standard, machine-readable, and interoperable knowledge relevant to T2DM treatment. It is a comprehensive ontology and provides the highest coverage and the most complete picture of coded knowledge about T2DM patients’ current conditions, previous profiles, and T2DM-related aspects, including complications, symptoms, lab tests, interactions, treatment plan (TP) frameworks, and glucose-related diseases and medications. It adheres to the design principles recommended by the Open Biomedical Ontologies Foundry and is based on ontological realism that follows the principles of the Basic Formal Ontology and the Ontology for General Medical Science. DMTO is implemented under Protégé 5.0 in Web Ontology Language (OWL) 2 format and is publicly available through the National Center for Biomedical Ontology’s BioPortal at http://bioportal.bioontology.org/ontologies/DMTO. The current version of DMTO includes more than 10,700 classes, 277 relations, 39,425 annotations, 214 semantic rules, and 62,974 axioms. We provide proof of concept for this approach to modeling TPs. Conclusion The ontology is able to collect and analyze most features of T2DM as well as customize chronic TPs with the most appropriate drugs, foods, and physical exercises. DMTO is ready to be used as a knowledge base for semantically intelligent and distributed CDSS systems. Electronic supplementary material The online version of this article (10.1186/s13326-018-0176-y) contains supplementary material, which is available to authorized users.

Background Host-microbiome interactions (HMIs) are critical for the modulation of biological processes and are associated with several diseases. Extensive HMI studies have generated large amounts of data. We propose that the logical representation of the knowledge derived from these data and the standardized representation of experimental variables and processes can foster integration of data and reproducibility of experiments and thereby further HMI knowledge discovery. Methods Through a multi-institutional collaboration, a community-based Ontology of Host-Microbiome Interactions (OHMI) was developed following the Open Biological/Biomedical Ontologies (OBO) Foundry principles. As an OBO library ontology, OHMI leverages established ontologies to create logically structured representations of (1) microbiomes, microbial taxonomy, host species, host anatomical entities, and HMIs under different conditions and (2) associated study protocols and types of data analysis and experimental results. Results Aligned with the Basic Formal Ontology, OHMI comprises over 1000 terms, including terms imported from more than 10 existing ontologies together with some 500 OHMI-specific terms. A specific OHMI design pattern was generated to represent typical host-microbiome interaction studies. As one major OHMI use case, drawing on data from over 50 peer-reviewed publications, we identified over 100 bacteria and fungi from the gut, oral cavity, skin, and airway that are associated with six rheumatic diseases including rheumatoid arthritis. Our ontological study identified new high-level microbiota taxonomical structures. Two microbiome-related competency questions were also designed and addressed. We were also able to use OHMI to represent statistically significant results identified from a large existing microbiome database data analysis. Conclusion OHMI represents entities and relations in the domain of HMIs. It supports shared knowledge representation, data and metadata standardization and integration, and can be used in formulation of advanced queries for purposes of data analysis.

For the last 15 years, Biodiversity Information Standards (TDWG) has recognized two competing standards for organism occurrence data, ABCD (Access to Biological Collections Data; Holetschek et al. 2012) and DarwinCore (Wieczorek et al. 2012). These two representations emerged from contrasting strategies for mobilizing information about organism occurrences (also commonly called species occurrence data). ABCD was capable of representing details of more kinds of information, but was necessarily more complicated. DarwinCore, on the other hand, was simpler but more limited in its ability to represent data of different kinds and formats. TDWG endorsed both standards because the different projects and communities that generated them remained dedicated to their different strategies and tool sets, and the Global Biodiversity Information Facility (GBIF) developed the ability to integrate data published in either standard. Since their inceptions, DarwinCore and ABCD have become more similar. DarwinCore has gotten more complicated through the addition of terms and has begun to assign terms to classes. ABCD is now expressed in RDF (Resource Description Framework), potentially enabling re-use of terms with alternative structures among classes. At the same time, methodologies for conceptual modeling and representing complex scientific data have continued to evolve. In particular, a suite of modeling and data representation methods related to linked data and the semantic web, i.e., RDF, SKOS (Simple Knowledge Organization System), and OWL (web Ontology Language), promise to make it easier for us to reconcile shared concepts among different representations or schemas. A mapping between ABCD 2.1 and DarwinCore has existed since before 2005.*1 ABCD 3.0 and DarwinCore are both now represented in RDF. In addition, the BioCollections Ontology (BCO) covers many of the shared concepts and is derived from the Basic Formal Ontology (BFO), an upper level ontology that has oriented many other biomedical ontologies. Reconciling ABCD and DarwinCore through alignment with BCO (in the OBO Foundry; Smith et al. 2007) would better connect TDWG standards to other domains in biology. We appreciate that many working scientists and data managers perceive ontologies as overly complicated. To mitigate the steep learning curve associated with ontologies, we expect to create simpler application profiles or schemas to guide and serve narrower communities of practice within the wider biodiversity domain. We also plan to integrate the current work of the Taxonomic Names and Concepts Interest Group and thereby eliminate the redundancy between DarwinCore and Taxonomic Concepts Transfer Schema (TCS; Kennedy et al. 2006). At the time of this writing, we have only agreements from the authors (i.e., conveners of relevant TDWG Interest Groups and other key stakeholders) to collaborate in pursuit of these common goals. In this presentation we will give a more detailed description of our objectives and products, the methods we are using to achieve them, and our progress to date.

Over the last decade, 4D printing paradigm has received intensive research efforts, whether from researchers in additive manufacturing (AM) or in smart materials (SMs) development. Related research works have thereby generated a large number of ad-hoc solutions with relevant disparate and scattered knowledge. This lack of common core knowledge is mainly due to the multiple involved expertise for fabricating stimulus-reactive structures. The scientific issue of federating and reconciling knowledge is also reinforced especially if such technology must be integrated into the product design process, falling under the field of design for 4D printing. To tackle this challenge, it becomes crucial to formalize and represent knowledge relating AM processes/techniques, SMs behaviours, stimuli and transformation functions with the variety of design objects. In such a context, the paper aims at developing an ontology-based framework for the semantic and logical description of transformable objects in the era of 4D printing for product-process design related purposes. This framework – which is built upon a foundational ontology associated with mereotopology for describing dynamical phenomena called basic formal ontology – consists in introducing a domain ontology equipped with reasoning capabilities supported by description logics for SMs selection and distribution, transformation sequence planning and AM process planning purposes.

The notion of function is indispensable to our understanding of distinctions such as that between being broken and being in working order (for artifacts) and between being diseased and being healthy (for organisms). A clear account of the ontology of functions and functioning is thus an important desideratum for any top-level ontology intended for application to domains such as engineering or medicine. The benefit of using top-level ontologies in applied ontology can only be realized when each of the categories identified and defined by a top-level ontology is integrated with the others in a coherent fashion. Basic Formal Ontology (BFO) has from the beginning included function as one of its categories, exploiting a version of the etiological account of function that is framed at a level of generality sufficient to accommodate both biological and artifactual functions. This account has been subjected to a series of criticisms and refinements. We here articulate BFO's account of function, provide some reasons for favoring it over competing views, and defend it against objections.

Background With the emergence of high-throughput technologies, Big Data and eScience, the use of online data repositories and the establishment of new data standards that require data to be computer-parsable become increasingly important. As a consequence, there is an increasing need for an integrated system of hierarchies of levels of different types of material entities that helps with organizing, structuring and integrating data from disparate sources to facilitate data exploration, data comparison and analysis. Theories of granularity provide such integrated systems. Results On the basis of formal approaches to theories of granularity authored by information scientists and ontology researchers, I discuss the shortcomings of some applications of the concept of levels and argue that the general theory of granularity proposed by Keet circumvents these problems. I introduce the concept of building blocks, which gives rise to a hierarchy of levels that can be formally characterized by Keet’s theory. This hierarchy functions as an organizational backbone for integrating various other hierarchies that I briefly discuss, resulting in a domain granularity framework for the life sciences. I also discuss the consequences of this granularity framework for the structure of the top-level category of ‘material entity’ in Basic Formal Ontology. Conclusions The domain granularity framework suggested here is meant to provide the basis on which a more comprehensive information framework for the life sciences can be developed, which would provide the much needed conceptual framework for representing domains that cover multiple granularity levels. This framework can be used for intuitively structuring data in the life sciences, facilitating data exploration, and it can be employed for reasoning over different granularity levels across different hierarchies. It would provide a methodological basis for establishing comparability between data sets and for quantitatively measuring their degree of semantic similarity.

In the context of globalization and knowledge management, information technologies require an ample need of unprecedented levels of data exchange and sharing to allow collaboration between heterogeneous systems. Yet, understanding the semantics of the exchanged data is one of the major challenges. Semantic interoperability can be ensured by capturing knowledge from diverse sources by using ontologies and align these latter by using upper-level ontologies to come up with a common shared vocabulary. In this paper, we aim in one hand to investigate the role of upper-level ontologies as a mean for enabling the formalization and integration of heterogeneous sources of information and how it may support interoperability of systems. On the other hand, we present several upper-level ontologies and how we chose and then used basic formal ontology (BFO) as an upper-level ontology and common core ontology (CCO) as a mid-level ontology to develop a modular ontology that defines emergency responders’ knowledge starting from firefighters’ module for a solution to the semantic interoperability problem in emergency management.

PurposeApplied computational ontologies (ACOs) are increasingly used in data science domains to produce semantic enhancement and interoperability among divergent data. The purpose of this paper is to propose and implement a methodology for researching the sociotechnical dimensions of data-driven ontology work, and to show how applied ontologies are communicatively constituted with ethical implications.Design/methodology/approachThe underlying idea is to use a data assemblage approach for studying ACOs and the methods they use to add semantic complexity to digital data. The author uses a mixed methods approach, providing an analysis of the widely used Basic Formal Ontology (BFO) through digital methods and visualizations, and presents historical research alongside unstructured interview data with leading experts in BFO development.FindingsThe author found that ACOs are products of communal deliberation and decision making across institutions. While ACOs are beneficial for facilitating semantic data interoperability, ACOs may produce unintended effects when semantically enhancing data about social entities and relations. ACOs can have potentially negative consequences for data subjects. Further critical work is needed for understanding how ACOs are applied in contexts like the semantic web, digital platforms, and topic domains. ACOs do not merely reflect social reality through data but are active actors in the social shaping of data.Originality/valueThe paper presents a new approach for studying ACOs, the social impact of ACO work, and describes methods that may be used to produce further applied ontology studies.

This chapter proposes Plateforme OperationnelLe d'Actualisation du Renseignement Interservices pour la Securite Civile (POLARISC), an ontology‐based operational emergency response (ER) system for smart cities. In addition, POLARISC offers a set of services for smart cities including alerting smart actors, the evacuation of victims, providing Emergency Detour Route and so on. The chapter illustrates the architecture of POLARISC as a whole system. POLARISC is mainly a software solution that plays the role of mediation between ERs. The modular ontology is the first ontology based on the Basic Formal Ontology (BFO) and Common Core Ontology (CCO) that aims to define the ERs knowledge. Once POLARISC ontology is done and the common operating platform is established, the cited smart cities services can be enabled.

Background. Classifying entities in domain ontologies under upper ontology classes is a recommended task in ontology engineering to facilitate semantic interoperability and modelling consistency. Integrating upper ontologies this way is difficult and, despite emerging automated methods, remains a largely manual task. Problem. Little is known about how well experts perform at upper ontology integration. To develop methodological and tool support, we first need to understand how well experts do this task. We designed a study to measure the performance of human experts at manually classifying classes in a general knowledge domain ontology with entities in the Basic Formal Ontology (BFO), an upper ontology used widely in the biomedical domain.Method. We recruited 8 BFO experts and asked them to classify 46 commonly known entities from the domain of travel with BFO entities. The tasks were delivered as part of a web survey.Results. We find that, even for a well understood general knowledge domain such as travel, the results of the manual classification tasks are highly inconsistent: the mean agreement of the participants with the classification decisions of an expert panel was only 51%, and the inter-rater agreement using Fleiss’ Kappa was merely moderate (0.52). We further follow up on the conjecture that the degree of classification consistency is correlated with the frequency the respective BFO classes are used in practice and find that this is only true to a moderate degree (0.52, Pearson).Conclusions. We conclude that manually classifying domain entities under upper ontology classes is indeed very difficult to do correctly. Given the importance of the task and the high degree of inconsistent classifications we encountered, we further conclude that it is necessary to improve the methodological framework surrounding the manual integration of domain and upper ontologies.

The paper is one of the few attempts to develop a Product Service System (PSS) ontology aiming to facilitate Knowledge Management in collaborative PSS design, focusing upon machine industry. The PSS ontology includes concepts such as products, services, PSS, PSS lifecycle, process and stakeholders, including direct customers, consumers and their feedback. The context sensitivity approach is proposed to fully support the use of different tools for PSS development by various stakeholders. The context model includes both PSS ontology and a so-called usercentric ontology. The process to develop the ontologies is described. The approach to build the PSS ontology is based on the so-called Basic Formal Ontology (BFO). The foreseen applications of both ontologies in industrial practice of machine vendors and the expected benefits are being elaborated.

Applied ontology, at the foundational level, is as much philosophy as engineering and as such provides a different aspect of contemporary natural philosophy. A prominent foundational ontology in this field is the Basic Formal Ontology (BFO). It is important for lesser known ontologies, like the trope ontology of interest here, to match to BFO because BFO acts like the glue between many disparate ontologies. Moreover, such matchings provide philosophical insight into ontologies. As such, the core research question here is how we can match a trope ontology to BFO (which is based on universals) and what insights such a matching provides for foundational ontology. This article provides a logical matching, starting with BFO&rsquo, s top entities (continuants and occurrences) and identifies key ontological issues that arise, such as whether universals and mereological sums are equivalent. This article concludes with general observations about the matching, including that matching to universals is generally straightforward, but not so much the matching between relations. In particular, the treatment of occurrences as causal chains is different in the trope ontology, compared to BFO&rsquo, s use of time arguments.

Graphical abstractDisplay Omitted TRAK ontology models domain-specific knowledge about the rehabilitation of knee conditions.TRAK provides terminology, definitions and graphical illustrations of knee treatments.TRAK supports shared understanding of standard care in knee rehabilitation.TRAK provides the framework that can be used to collect data for epidemiologic studies of knee conditions.TRAK can support randomized control with a control intervention that is well defined and reflects clinical practice. In this paper we discuss the design and development of TRAK (Taxonomy for RehAbilitation of Knee conditions), an ontology that formally models information relevant for the rehabilitation of knee conditions. TRAK provides the framework that can be used to collect coded data in sufficient detail to support epidemiologic studies so that the most effective treatment components can be identified, new interventions developed and the quality of future randomized control trials improved to incorporate a control intervention that is well defined and reflects clinical practice. TRAK follows design principles recommended by the Open Biomedical Ontologies (OBO) Foundry. TRAK uses the Basic Formal Ontology (BFO) as the upper-level ontology and refers to other relevant ontologies such as Information Artifact Ontology (IAO), Ontology for General Medical Science (OGMS) and Phenotype And Trait Ontology (PATO). TRAK is orthogonal to other bio-ontologies and represents domain-specific knowledge about treatments and modalities used in rehabilitation of knee conditions. Definitions of typical exercises used as treatment modalities are supported with appropriate illustrations, which can be viewed in the OBO-Edit ontology editor. The vast majority of other classes in TRAK are cross-referenced to the Unified Medical Language System (UMLS) to facilitate future integration with other terminological sources. TRAK is implemented in OBO, a format widely used by the OBO community. TRAK is available for download from http://www.cs.cf.ac.uk/trak. In addition, its public release can be accessed through BioPortal, where it can be browsed, searched and visualized.

Today, Complex African Society; African Traditional Medicine ATM is used in parallel to Conventional Medicine CM. Various attempts have been made to bridge the gap between African Traditional Medicine and Conventional Medicine in order to harmonize treatment and to create equal form of therapeutic cooperation. Although there is some minimal form of collaboration, African Traditional Medicine lacks formal structures; each practitioner has his/her own ways of providing healing services. Knowledge generated from Conventional Medicine is structured unlike African Traditional Medicine whose knowledge is not structured, isolated and mistrusted yet a lot of knowledge is generated in the practices which can be use across whole health sector. In this paper we are proposing ontology as a model to bridge the gap between African Traditional Medicine and Conventional Medicine for the benefit of users. We are proposing a methodology for structuring ATM knowledge as an extension of Basic Formal Ontology BFO; a standard upper level ontology.

In the graphical representation of ontologies, in particular for part_whole relationships, it is customary to use graph theory as the representational background. We claim here that the standard graph-based approach has a number of limitations, and because of that we propose a better way to represent part_whole structures for ontologies developed in accordance with the Basic Formal Ontology, one that will reduce visual pollution and ground part_whole on a more rigorous visual representation. The experiments we carried out indicate we achieved the stated benefits and that the proposed representation is useful for the development of information systems in general and in particular for biomedical systems and applications.

Pre-eclampsia (PE) is a clinical syndrome characterized by new-onset hypertension and proteinuria at ≥20 weeks of gestation, and is a leading cause of maternal and perinatal morbidity and mortality. Previous studies have gathered abundant data about PE such as risk factors and pathological findings. However, most of these data are not semantically structured. Clinical data on PE patients are often generated with semantic heterogeneity such as using disparate terminology to describe the same phenomena. In clinical studies, interoperability of heterogenic clinical data is required in various situations. In such a situation, it is necessary to develop an interoperable and standardized semantic framework to research the pathology of PE more comprehensively and to achieve interoperability of heterogenic clinical data of PE patients. In this study, we developed an ontology representing clinical features, treatments, genetic factors, environmental factors, and other aspects of the current knowledge in the domain of PE. We call this pre-eclampsia ontology "PEO". To achieve interoperability with other ontologies, the core structure of PEO was compliant with the hierarchy of the Basic Formal Ontology (BFO). The PEO incorporates a wide range of key concepts and terms of PE from clinical and biomedical research in structuring the knowledge base that is specific to PE; therefore, PEO is expected to enhance PE-specific information retrieval and knowledge discovery in both clinical and biomedical research fields.

Diabetes mellitus is a major cause of morbidity and mortality in humans. Early diagnosis is the first step toward the management of this condition. However, a diagnosis involves several variables, which makes it difficult to arrive at an accurate and timely diagnosis and to construct accurate personalized treatment plans. An electronic health record system requires an integrated decision support capability, and ontologies are rapidly becoming necessary for the design of efficient, reliable, extendable, reusable, and semantically intelligent knowledge bases. In this study, we take the first step in this direction, by designing an OWL2 diabetes diagnosis ontology (DDO). Protege 5 software was used for the construction of the ontology. DDO is developed within the framework of the basic formal ontology and the ontology for general medical science to represent entities in the domain of diabetes, and it follows the design principles recommended by the Open Biomedical Ontology Foundry. Currently, DDO contains 6444 concepts, 48 properties, 13,551 annotations, and 27,127 axioms. DDO can serve as a diabetes knowledge base and supports automatic reasoning. It represents a major step toward the development of a new generation of patient-centric decision support tools. DDO is available through BioPortal at: http://www.bioportal.bioontology.org/ontologies/DDO .

Background The Ontology of Medically Related Social Entities (OMRSE) was initially developed in 2011 to provide a framework for modeling demographic data in Resource Description Framework/Web Ontology Language. It is built upon the Basic Formal Ontology and conforms to Open Biomedical Ontologies Foundry’s best practices. Description We report recent development of OMRSE which includes representations of organizations, roles, facilities, demographic data, enrollment in insurance plans, and data about socio-economic indicators. Conclusions OMRSE’s coverage has been expanding in recent years to include a wide variety of classes and has been useful in several biomedical applications.

The Ontology for Biomedical Investigations (OBI) is an ontology that provides terms with precisely defined meanings to describe all aspects of how investigations in the biological and medical domains are conducted. OBI re-uses ontologies that provide a representation of biomedical knowledge from the Open Biological and Biomedical Ontologies (OBO) project and adds the ability to describe how this knowledge was derived. We here describe the state of OBI and several applications that are using it, such as adding semantic expressivity to existing databases, building data entry forms, and enabling interoperability between knowledge resources. OBI covers all phases of the investigation process, such as planning, execution and reporting. It represents information and material entities that participate in these processes, as well as roles and functions. Prior to OBI, it was not possible to use a single internally consistent resource that could be applied to multiple types of experiments for these applications. OBI has made this possible by creating terms for entities involved in biological and medical investigations and by importing parts of other biomedical ontologies such as GO, Chemical Entities of Biological Interest (ChEBI) and Phenotype Attribute and Trait Ontology (PATO) without altering their meaning. OBI is being used in a wide range of projects covering genomics, multi-omics, immunology, and catalogs of services. OBI has also spawned other ontologies (Information Artifact Ontology) and methods for importing parts of ontologies (Minimum information to reference an external ontology term (MIREOT)). The OBI project is an open cross-disciplinary collaborative effort, encompassing multiple research communities from around the globe. To date, OBI has created 2366 classes and 40 relations along with textual and formal definitions. The OBI Consortium maintains a web resource (http://obi-ontology.org) providing details on the people, policies, and issues being addressed in association with OBI. The current release of OBI is available at http://purl.obolibrary.org/obo/obi.owl. This work was supported by the National Institute of Allergy and Infectious Diseases (https:// www.niaid.nih.gov/Pages/default.aspx) R01AI081062 to YH, the National Institutes of Health (http://www. nih.gov/) R01GM093132, U01 DK 072473, P41 HG003619 and HHSN272201400030C to CJS, HHSN272201400028C to RHS, HHSN272201200010C and 1U19AI118626 to BP, the California Institute for Regenerative Medicine (https:// www.cirm.ca.gov) GC1R-06673-B to RHS, the National Science Foundation Division of Biological Infrastructure (http://www.nsf.gov) 1458400 to MCC

In information systems, ontologies promise advantages such as enhanced interoperability, knowledge sharing, and integration of data sources. In this article, we show that the upper ontology Basic Formal Ontology can facilitate the modeling of an evolution of administrative units. This is demonstrated by creating a spatiotemporal ontology for the administrative units of Switzerland. The ontology tackles the problem that the geometric data is typically captured by taking snapshots at regular intervals while the thematic data is continually updated. The ontology presented merges time-stamped geometries with a formally described history of administrative units, allowing for complex spatiotemporal queries neither standard approach would support. The resulting populated knowledge base was evaluated against a set of spatiotemporal test queries. The evaluation showed that this knowledge base supports a wide range of queries on the evolution of the administrative units of Switzerland between 1960 and 2010.

We begin by describing recent developments in the burgeoning discipline of applied ontology, focusing especially on the ways ontologies are providing a means for the consistent representation of scientific data. We then introduce Basic Formal Ontology (BFO), a top-level ontology that is serving as domain-neutral framework for the development of lower level ontologies in many specialist disciplines, above all in biology and medicine. BFO is a bicategorial ontology, embracing both three-dimensionalist (continuant) and four-dimensionalist (occurrent) perspectives within a single framework. We examine how BFO-conformant domain ontologies can deal with the consistent representation of scientific data deriving from the measurement of processes of different types, and we outline on this basis the first steps of an approach to the classification of such processes within the BFO framework.1

ChEBI (http://www.ebi.ac.uk/chebi) is a database and ontology of chemical entities of biological interest. Over the past few years, ChEBI has continued to grow steadily in content, and has added several new features. In addition to incorporating all user-requested compounds, our annotation efforts have emphasized immunology, natural products and metabolites in many species. All database entries are now ‘is_a’ classified within the ontology, meaning that all of the chemicals are available to semantic reasoning tools that harness the classification hierarchy. We have completely aligned the ontology with the Open Biomedical Ontologies (OBO) Foundry-recommended upper level Basic Formal Ontology. Furthermore, we have aligned our chemical classification with the classification of chemical-involving processes in the Gene Ontology (GO), and as a result of this effort, the majority of chemical-involving processes in GO are now defined in terms of the ChEBI entities that participate in them. This effort necessitated incorporating many additional biologically relevant compounds. We have incorporated additional data types including reference citations, and the species and component for metabolites. Finally, our website and web services have had several enhancements, most notably the provision of a dynamic new interactive graph-based ontology visualization.

Data generated from cancer nanotechnology research are so diverse and large in volume that it is difficult to share and efficiently use them without informatics tools. In particular, ontologies that provide a unifying knowledge framework for annotating the data are required to facilitate the semantic integration, knowledge-based searching, unambiguous interpretation, mining and inferencing of the data using informatics methods. In this paper, we discuss the design and development of NanoParticle Ontology (NPO), which is developed within the framework of the Basic Formal Ontology (BFO), and implemented in the Ontology Web Language (OWL) using well-defined ontology design principles. The NPO was developed to represent knowledge underlying the preparation, chemical composition, and characterization of nanomaterials involved in cancer research. Public releases of the NPO are available through BioPortal website, maintained by the National Center for Biomedical Ontology. Mechanisms for editorial and governance processes are being developed for the maintenance, review, and growth of the NPO.

Clinical research includes a wide range of study designs from focused observational studies to complex interventional studies with multiple study arms, treatment and assessment events, and specimen procurement procedures. Participant characteristics from case report forms need to be integrated with molecular characteristics from mechanistic experiments on procured specimens. In order to capture and manage this diverse array of data, we have developed the Ontology-Based eXtensible data model (OBX) to serve as a framework for clinical research data in the Immunology Database and Analysis Portal (ImmPort). By designing OBX around the logical structure of the Basic Formal Ontology (BFO) and the Ontology for Biomedical Investigations (OBI), we have found that a relatively simple conceptual model can represent the relatively complex domain of clinical research. In addition, the common framework provided by BFO makes it straightforward to develop data dictionaries based on reference and application ontologies from the OBO Foundry.

Since 2002 we have been testing and refining a methodology for ontology development that is now being used by multiple groups of researchers in different life science domains. Gary Merrill, in a recent paper in this journal, describes some of the reasons why this methodology has been found attractive by researchers in the biological and biomedical sciences. At the same time he assails the methodology on philosophical grounds, focusing specifically on our recommendation that ontologies developed for scientific purposes should be constructed in such a way that their terms are seen as referring to what we call universals or types in reality. As we show, Merrill’s critique is of little relevance to the success of our realist project, since it not only reveals no actual errors in our work but also criticizes views on universals that we do not in fact hold. However, it nonetheless provides us with a valuable opportunity to clarify the realist methodology, and to show how some of its principles are being applied, especially within the framework of the OBO (Open Biomedical Ontologies) Foundry initiative.

We propose that representations for structured models of human and social history need to go beyond traditional ontologies to the combination of rich semantic ontologies with programming languages. We base our approach on the Basic Formal Ontology (BFO) and then consider how to extend it beyond traditional approaches to ontology with higher-level structures. For instance, we propose the need for composite entities that allow transitions in the configuration of component entities. We then explore the relationship of these composite entities to notion of systems and consider how they may provide a definition of “causal unity” and be related to models of social systems. We identify some challenges in defining the nature of social entities. Finally, we introduce structured applied epistemology as a framework for managing historical evidence, analysis, and argumentation.

We propose a modeling approach for formal descriptions of historical material. In our previous work, we defined the formal structures of social entities such as roles, rights and obligations, activities, and processes which appear in the Roman Constitution, as an application of Basic Formal Ontology (BFO). In this paper, we extend that approach by incorporating aspects of the Information Artifact Ontology (IAO) and the emerging Document Acts Ontology (DAO). We use these to describe relationships among realizable entities (role and function), rights and obligations that are aligned to Socio-Legal Generically Dependent Continuants (SGDCs) of DAO, and activities as subtypes of directive information entity of IAO. Two examples are discussed: a passage from a digitized historical newspaper and a description of citizenship in ancient Rome.

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.

The value of any kind of data is greatly enhanced when it exists in a form that allows it to be integrated with other data. One approach to integration is through the annotation of multiple bodies of data using common controlled vocabularies or ‘ontologies’. Unfortunately, the very success of this approach has led to a proliferation of ontologies, which itself creates obstacles to integration. The Open Biomedical Ontologies (OBO) consortium is pursuing a strategy to overcome this problem. Existing OBO ontologies, including the Gene Ontology, are undergoing coordinated reform, and new ontologies are being created on the basis of an evolving set of shared principles governing ontology development. The result is an expanding family of ontologies designed to be interoperable and logically well formed and to incorporate accurate representations of biological reality. We describe this OBO Foundry initiative and provide guidelines for those who might wish to become involved.

The central hypothesis underlying this communication is that the methodology and conceptual rigor of a philosophically inspired formal ontology can bring significant benefits in the development and maintenance of application ontologies [A. Flett, M. Dos Santos, W. Ceusters, Some Ontology Engineering Procedures and their Supporting Technologies, EKAW2002, 2003]. This hypothesis has been tested in the collaboration between Language and Computing (L&C), a company specializing in software for supporting natural language processing especially in the medical field, and the Institute for Formal Ontology and Medical Information Science (IFOMIS), an academic research institution concerned with the theoretical foundations of ontology. In the course of this collaboration L&C's ontology, LinKBase, which is designed to integrate and support reasoning across a plurality of external databases, has been subjected to a thorough auditing on the basis of the principles underlying IFOMIS's Basic Formal Ontology (BFO) [B. Smith, Basic Formal Ontology, 2002. http://ontology.buffalo.edu/bfo]. The goal is to transform a large terminology-based ontology into one with the ability to support reasoning applications. Our general procedure has been the implementation of a meta-ontological definition space in which the definitions of all the concepts and relations in LinKBase are standardized in the framework of first-order logic. In this paper we describe how this principles-based standardization has led to a greater degree of internal coherence of the LinKBase structure, and how it has facilitated the construction of mappings between external databases using LinKBase as translation hub. We argue that the collaboration here described represents a new phase in the quest to solve the so-called "Tower of Babel" problem of ontology integration [F. Montayne, J. Flanagan, Formal Ontology: The Foundation for Natural Language Processing, 2003. http://www.landcglobal.com/].

Background Literature mining of gene-gene interactions has been enhanced by ontology-based name classifications. However, in biomedical literature mining, interaction keywords have not been carefully studied and used beyond a collection of keywords. Methods In this study, we report the development of a new Interaction Network Ontology (INO) that classifies >800 interaction keywords and incorporates interaction terms from the PSI Molecular Interactions (PSI-MI) and Gene Ontology (GO). Using INO-based literature mining results, a modified Fisher’s exact test was established to analyze significantly over- and under-represented enriched gene-gene interaction types within a specific area. Such a strategy was applied to study the vaccine-mediated gene-gene interactions using all PubMed abstracts. The Vaccine Ontology (VO) and INO were used to support the retrieval of vaccine terms and interaction keywords from the literature. Results INO is aligned with the Basic Formal Ontology (BFO) and imports terms from 10 other existing ontologies. Current INO includes 540 terms. In terms of interaction-related terms, INO imports and aligns PSI-MI and GO interaction terms and includes over 100 newly generated ontology terms with ‘INO_’ prefix. A new annotation property, ‘has literature mining keywords’, was generated to allow the listing of different keywords mapping to the interaction types in INO. Using all PubMed documents published as of 12/31/2013, approximately 266,000 vaccine-associated documents were identified, and a total of 6,116 gene-pairs were associated with at least one INO term. Out of 78 INO interaction terms associated with at least five gene-pairs of the vaccine-associated sub-network, 14 terms were significantly over-represented (i.e., more frequently used) and 17 under-represented based on our modified Fisher’s exact test. These over-represented and under-represented terms share some common top-level terms but are distinct at the bottom levels of the INO hierarchy. The analysis of these interaction types and their associated gene-gene pairs uncovered many scientific insights. Conclusions INO provides a novel approach for defining hierarchical interaction types and related keywords for literature mining. The ontology-based literature mining, in combination with an INO-based statistical interaction enrichment test, provides a new platform for efficient mining and analysis of topic-specific gene interaction networks.

Background The Clinical Measurement Ontology (CMO), Measurement Method Ontology (MMO), and Experimental Condition Ontology (XCO) were originally developed at the Rat Genome Database (RGD) to standardize quantitative rat phenotype data in order to integrate results from multiple studies into the PhenoMiner database and data mining tool. These ontologies provide the framework for presenting what was measured, how it was measured, and under what conditions it was measured. Results There has been a continuing expansion of subdomains in each ontology with a parallel 2–3 fold increase in the total number of terms, substantially increasing the size and improving the scope of the ontologies. The proportion of terms with textual definitions has increased from ~60% to over 80% with greater synchronization of format and content throughout the three ontologies. Representation of definition source Uniform Resource Identifiers (URI) has been standardized, including the removal of all non-URI characters, and systematic versioning of all ontology files has been implemented. The continued expansion and success of these ontologies has facilitated the integration of more than 60,000 records into the RGD PhenoMiner database. In addition, new applications of these ontologies, such as annotation of Quantitative Trait Loci (QTL), have been added at the sites actively using them, including RGD and the Animal QTL Database. Conclusions The improvements to these three ontologies have been substantial, and development is ongoing. New terms and expansions to the ontologies continue to be added as a result of active curation efforts at RGD and the Animal QTL database. Use of these vocabularies to standardize data representation for quantitative phenotypes and quantitative trait loci across databases for multiple species has demonstrated their utility for integrating diverse data types from multiple sources. These ontologies are freely available for download and use from the NCBO BioPortal website at http://bioportal.bioontology.org/ontologies/1583 (CMO), http://bioportal.bioontology.org/ontologies/1584 (MMO), and http://bioportal.bioontology.org/ontologies/1585 (XCO), or from the RGD ftp site at ftp://rgd.mcw.edu/pub/ontology/.

A set of well-integrated clinical terminologies is at the core of delivering an efficient clinical trial system. The design and outcomes of a clinical trial can be improved significantly through an unambiguous and consistent set of clinical terminologies used in a participating clinical institute. However, due to lack of generalised legal and technical standards, heterogeneity exists between prominent clinical terminologies as well as within and between clinical systems at several levels, e.g., data, schema, and medical codes. This article specifically addresses the problem of integrating local or proprietary clinical terminologies with the globally defined universal concepts or terminologies. To deal with the problem of ambiguous, inconsistent, and overlapping clinical terminologies, domain and knowledge representation specialists have been repeatedly advocated the use of formal ontologies. We address two key challenges in developing an ontology-based clinical terminology (1) an ontology building methodology for clinical terminologies that are separated in global and local layers; and (2) aligning global and local clinical terminologies. We present Semantic Electronic Health Record (SEHR) ontology that covers multiple sub-domains of Healthcare and Life Sciences (HCLS) through specialisation of the upper-level Basic Formal Ontology (BFO). One of the main features of SEHR is layering and adaptation of local clinical terminologies with the upper-level BFO. Our empirical evaluation shows an agreement of clinical experts confirming SEHR's usability in clinical trials.

Epidemiology is a data-intensive and multi-disciplinary subject, where data integration, curation and sharing are becoming increasingly relevant, given its global context and time constraints. The semantic annotation of epidemiology resources is a cornerstone to effectively support such activities. Although several ontologies cover some of the subdomains of epidemiology, we identified a lack of semantic resources for epidemiology-specific terms. This paper addresses this need by proposing the Epidemiology Ontology (EPO) and by describing its integration with other related ontologies into a semantic enabled platform for sharing epidemiology resources. The EPO follows the OBO Foundry guidelines and uses the Basic Formal Ontology (BFO) as an upper ontology. The first version of EPO models several epidemiology and demography parameters as well as transmission of infection processes, participants and related procedures. It currently has nearly 200 classes and is designed to support the semantic annotation of epidemiology resources and data integration, as well as information retrieval and knowledge discovery activities. EPO is under active development and is freely available at https://code.google.com/p/epidemiology-ontology/ . We believe that the annotation of epidemiology resources with EPO will help researchers to gain a better understanding of global epidemiological events by enhancing data integration and sharing.

SummaryIntroduction: This article is part of the Focus Theme of Methods of Information in Medicine on “Managing Interoperability and Complexity in Health Systems”.Background: Primary care data is the single richest source of routine health care data. However its use, both in research and clinical work, often requires data from multiple clinical sites, clinical trials databases and registries. Data integration and interoperability are therefore of utmost importance.Objectives: TRANSFoRm’s general approach relies on a unified interoperability framework, described in a previous paper. We developed a core ontology for an interoperability framework based on data mediation. This article presents how such an ontology, the Clinical Data Integration Model (CDIM), can be designed to support, in conjunction with appropriate terminologies, biomedical data federation within TRANSFoRm, an EU FP7 project that aims to develop the digital infrastructure for a learning healthcare system in European Primary Care.Methods: TRANSFoRm utilizes a unified structural / terminological interoperability frame work, based on the local-as-view mediation paradigm. Such an approach mandates the global information model to describe the domain of interest independently of the data sources to be explored. Following a requirement analysis process, no ontology focusing on primary care research was identified and, thus we designed a realist ontology based on Basic Formal Ontology to support our framework in collaboration with various terminologies used in primary care.Results: The resulting ontology has 549 classes and 82 object properties and is used to support data integration for TRANSFoRm’s use cases. Concepts identified by researchers were successfully expressed in queries using CDIM and pertinent terminologies. As an example, we illustrate how, in TRANSFoRm, the Query Formulation Workbench can capture eligibility criteria in a computable representation, which is based on CDIM.Conclusion: A unified mediation approach to semantic interoperability provides a flexible and extensible framework for all types of interaction between health record systems and research systems. CDIM, as core ontology of such an approach, enables simplicity and consistency of design across the heterogeneous software landscape and can support the specific needs of EHR-driven phenotyping research using primary care data.

Basic Formal Ontology (Zakladni formalni ontologie, zkr. BFO) vyvijena Barry Smithem a jeho spolupracovniky je fundamentalni ontologie uživana v informacni vědě k popisu entit na nejvyssi urovni obecnosti. Jednim z napadných rysů BFO je rozděleni entit na ty, ktere trvaji (continuants) a jsou soucasti ontologie SNAP (snap = snimek), a na ty, ktere se ději (occurents) a jsou soucasti ontologie SPAN (span = rozpěti). Toto děleni je motivovano kontroverzi mezi endurantismem a perdurantismem v soucasne analyticke metafyzice. V tomto clanku, v navaznosti na Aristotela, navrhuji v zajmu realismu urcitou modifikaci Smithova přistupu. Basic Formal Ontology (BFO), developed by Barry Smith and his colleagues, is a foundational ontology used in information science for the description of entities at the highest level of generality. One of the salient features of BFO is the division of entities into continuants of so-called SNAP (or snapshot) ontology and occurents of so-called SPAN (or spanning time) ontology. The division is motivated by an apparent impasse in the endurantist/perdurantist controversy in recent analytical metaphysics. In this paper, drawing on Aristotle, I suggest a realism-supporting modification of Smith’s approach. Daniel D. Novotný Teologicka fakulta Jihoceske univerzity v Ceských Budějovicich