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Biomedical subjects

Werner Ceusters

Publications and source records attributed to Werner Ceusters.

13 recordsLinked to original sources

HL7 RIM: an incoherent standard.

The Health Level 7 Reference Information Model (HL7 RIM) is lauded by its authors as 'the foundation of healthcare interoperability'. Yet even after some 10 years of development work, the RIM is still subject to a variety of logical and ontological flaws, which has placed severe obstacles in the way of those who are called upon to develop implementations. We offer evidence that these obstacles are insurmountable and that the time has come to abandon an unworkable paradigm.

Computational Biology↗

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.

Forms and Records Control↗

Strategies for referent tracking in electronic health records.

The goal of referent tracking is to create an ever-growing pool of data relating to the entities existing in concrete spatiotemporal reality. In the context of Electronic Healthcare Records (EHRs) the relevant concrete entities are not only particular patients but also their parts, diseases, therapies, lesions, and so forth, insofar as these are salient to diagnosis and treatment. Within a referent tracking system, all such entities are referred to directly and explicitly, something which cannot be achieved when familiar concept-based systems are used in what is called "clinical coding." In this paper, we describe the components of a referent tracking system in an informal way and we outline the procedures that would have to be followed by healthcare personnel in using such a system. We argue that the referent tracking paradigm can be introduced with only minor--though nevertheless ontologically important--technical changes to existing EHR infrastructures, but that it will require a radically different mindset on the part of those involved in clinical coding and terminology development from that which has prevailed hitherto.

Computational Biology↗

Relations in biomedical ontologies.

To enhance the treatment of relations in biomedical ontologies we advance a methodology for providing consistent and unambiguous formal definitions of the relational expressions used in such ontologies in a way designed to assist developers and users in avoiding errors in coding and annotation. The resulting Relation Ontology can promote interoperability of ontologies and support new types of automated reasoning about the spatial and temporal dimensions of biological and medical phenomena.

Biomedical Research↗

A novel view on information content of concepts in a large ontology and a view on the structure and the quality of the ontology.

Semantic distance and semantic similarity are two important information retrieval measures used in word sense disambiguation as well as for the assessment of how relevant concepts are with respect to the documents in which they are found. A variety of calculation methods have been proposed in the literature, whereby methods taking into account the information content of an individual concept outperform those that do not. In this paper, we present a novel recursive approach to calculate a concept's information content based on the information content of the concepts to which it relates. The method is applicable to extremely large ontologies containing several million concepts and relationships amongst them. It is shown that a concept's information content as calculated by this method provides additional information with respect to an ontology that cannot be approximated by hierarchical edge-counting or human insight. In addition, it is suggested that the method can be used for quality control within large ontologies and that it can give you an impression on the structure and the quality of the ontology.

Algorithms↗

Tracking referents in electronic health records.

Electronic Health Records (EHRs) are organized around two kinds of statements: those reporting observations made, and those reporting acts performed. In neither case does the record involve any direct reference to what such statements are actually about. They record not: what is happening on the side of the patient, but rather: what is said about what is happening. While the need for a unique patient identifier is generally recognized, we argue that we should now move to an EHR regime in which all clinically salient particulars - from the concrete disorder on the side of the patient and the body parts in which it occurs to the concrete treatments given - should be uniquely identified. This will allow us to achieve interoperability among different systems of records at the level where it really matters: in regard to what is happening in the real world. It will also allow us to keep track of particular disorders and of the effects of particular treatments in a precise and unambiguous way.

Electronic Health Records↗

Wüsteria.

The last two decades have seen considerable efforts directed towards making electronic health records interoperable through improvements in medical ontologies, terminologies and coding systems. Unfortunately, these efforts have been hampered by a number of influential ideas inherited from the work of Eugen Wüster, the father of terminology standardization and the founder of ISO TC 37. We here survey Wüster's ideas - which see terminology work as being focused on the classification of concepts in people's minds - and we argue that they serve still as the basis for a series of influential confusions. We argue further that an ontology based unambiguously, not on concepts, but on the classification of entities in reality can, by removing these confusions, make a vital contribution to ensuring the interoperability of coding systems and healthcare records in the future.

Computer Systems↗

The Significance of SNODENT.

SNODENT is a dental diagnostic vocabulary incompletely integrated in SNOMED-CT. Nevertheless, SNODENT could become the de facto standard for dental diagnostic coding. SNODENT's manageable size, the fact that it is administratively self-contained, and relates to a well-understood domain provides valuable opportunities to formulate and test, in controlled experiments, a series of hypothesis concerning diagnostic systems. Of particular interest are questions related to establishing appropriate quality assurance methods for its optimal level of detail in content, its ontological structure, its construction and maintenance. This paper builds on previous-software-based methodologies designed to assess the quality of SNOMED-CT. When applied to SNODENT several deficiencies were uncovered. 9.52% of SNODENT terms point to concepts in SNOMED-CT that have some problem. 18.53% of SNODENT terms point to SNOMED-CT concepts do not have, in SNOMED, the term used by SNODENT. Other findings include the absence of a clear specification of the exact relationship between a term and a termcode in SNODENT and the improper assignment of the same termcode to terms with significantly different meanings. An analysis of the way in which SNODENT is structurally integrated into SNOMED resulted in the generation of 1081 new termcodes reflecting entities not present in the SNOMED tables but required by SNOMED's own description logic based classification principles. Our results show that SNODENT requires considerable enhancements in content, quality of coding, quality of ontological structure and the manner in which it is integrated and aligned with SNOMED. We believe that methods for the analysis of the quality of diagnostic coding systems must be developed and employed if such systems are to be used effectively in both clinical practice and clinical research.

Humans↗

An ontology-based methodology for the migration of biomedical terminologies to electronic health records.

Biomedical terminologies are focused on what is general, Electronic Health Records (EHRs) on what is particular, and it is commonly assumed that the step from the one to the other is unproblematic. We argue that this is not so, and that, if the EHR of the future is to fulfill its promise, then the foundations of both EHR architectures and biomedical terminologies need to be reconceived. We accordingly describe a new framework for the treatment of both generals and particulars in biomedical information systems that is designed: 1) to provide new opportunities for the sharing and management of data within and between healthcare institutions, 2) to facilitate interoperability among different terminology and record systems, and thereby 3) to allow new kinds of reasoning with biomedical data.

Forms and Records Control↗

Ontology-based error detection in SNOMED-CT.

Quality assurance in large terminologies is a difficult issue. We present two algorithms that can help terminology developers and users to identify potential areas of improvement. We demonstrate the methodology by applying the algorithms to one of the most popular terminologies, SNOMED-CT. Analysis of the results provides evidence for the thesis that both formal logical and linguistic tools should be used in the development and quality-assurance process of large terminologies.

Abstracting and Indexing↗

Mistakes in medical ontologies: where do they come from and how can they be detected?

We present the details of a methodology for quality assurance in large medical terminologies and describe three algorithms that can help terminology developers and users to identify potential mistakes. The methodology is based in part on linguistic criteria and in part on logical and ontological principles governing sound classifications. We conclude by outlining the results of applying the methodology in the form of a taxonomy different types of errors and potential errors detected in SNOMED-CT.

Algorithms↗

Using cross-lingual information to cope with underspecification in formal ontologies.

Description logics and other formal devices are frequently used as means for preventing or detecting mistakes in ontologies. Some of these devices are also capable of inferring the existence of inter-concept relationships that have not been explicity entered into an ontology. A prerequisite, however, is that this information can be derived from those formal definitions of concepts and relationships which are included within the ontology. In this paper, we present a novel algorithm that is able to suggest relationships among existing concepts in a formal ontology that are not derivable from such formal definitions. The algorithm exploits cross-lingual information that is implicity present in the collection of terms used in various languages to denote the concepts and relationships at tissue. By using a specific experimental design, we are able to quantify the impact of cross-lingual information in coping with underspecification in formal ontologies.

Algorithms↗

A novel view on information content of concepts in extremely large ontologies.

Semantic distance and semantic similarity are two important information retrieval measures used in word sense disambiguation as well as for the assessment of how relevant concepts are with respect to the documents in which they are found. A variety of calculation methods have been proposed in the literature, whereby methods taking into account the information content of an individual concept outperform those that don't. In this paper, we present a novel recursive approach to calculate a concept's information content based on the information content of the concepts to which it relates. The method is applicable to extremely large ontologies containing several million concepts and relationships amongst them. It is shown that a concept's information content as calculated by this method provides additional information with respect to an ontology that cannot be approximated by hierarchical edge-counting or human insight. In addition, it is suggested that the method can be used for quality control within large ontologies.

Algorithms↗