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Gálapagos: computer-based support for evolution of a convergent medical terminology.

Current controlled medical terminologies fall short of the needs of informatics application developers. To overcome the limitations of current medical terminologies, many groups are independently enhancing existing terminologies to meet their local needs. With proper computer-based support, local enhancements can be used as evolutionary stepping stones toward a convergent medical terminology. Gálapagos is a collection of applications that can take local enhancements from multiple sites, identify conflicting design decisions, allow developers to reconcile the conflicting designs, and efficiently disseminate updates tailored specifically for compatibility with locally enhanced terminologies. This paper describes an initial proof-of-concept of the Gálapagos programs using data generated during concurrent SNOMED enhancement by Kaiser Permanente and the Mayo Clinic.

Medical Informatics Computing↗

Scalable methodologies for distributed development of logic-based convergent medical terminology.

As the size and complexity of medical terminologies increase, terminology modelers are increasingly hampered by lack of tools and methods to manage the development process. This paper presents our use and ongoing evaluation of a description-logic classifier to support cognitive scalability of the underlying terminology and our enhancements to that classifier to support concurrent development utilizing semantics-based concurrency control methods. Our enhancements, collectively referred to as the Gálapagos, consist of several applications that take locally-developed terminology enhancements from multiple sites, identify conflicting design decisions, support the modelers' reconciliation of the conflicting designs, and efficiently disseminate updates tailored for locally enhanced terminologies. We have tested our ideas through concurrent evolutionary enhancement of SNOMED International at three Kaiser Permanente regions and the Mayo Clinic. We have found that the underlying environment has met our design objectives, and supports semantic-based concurrency control, and identification and resolution of conflicting design decisions.

Artificial Intelligence↗

A framework for characterizing terminological systems.

OBJECTIVES: The notion of a terminological system (TS) is complex due to the broad range of systems, applications, and clinical domains. A uniform approach to describe the characteristics of TSs is lacking. This impedes furthering understanding, applicability, mutual comparison and development of TSs. For these reasons we propose a terminological systems characterization framework. METHODS: Relevant issues pertaining to TSs and terminology servers have been extracted from literature describing requirements and functionality of TSs. From these issues, features have been distilled and further refined. A categorization has been developed to provide a convenient arrangement of these features. RESULTS: The framework distinguishes between application-dependent and application-independent features of TSs. Definitions are provided for measures of content coverage, which was identified as the only application-dependent feature. Application-independent features are categorized along two axes: their respective type of TS and the particular element within that system, i.e. the formalism, the content, or the functionality. For each feature we provide an explicit question, the answer to which yields a feature value. The framework has been applied to SNOMED CT and the CLUE browser. CONCLUSIONS: We present and apply a framework to support a feature-based characterization of terminological systems. Standardized methods for content coverage studies reduce the effort of assessing the applicability of a TS for a specific clinical setting. A two-axial categorization provides a convenient arrangement of the large number of application-independent features. Application of the framework increases comparability of terminological systems. This framework may also help TS developers determine how their system can be improved.

Medical Informatics Applications↗

Rates of change in a large clinical terminology: three years experience with SNOMED Clinical Terms.

The Systematized Nomenclature of Medicine, Clinical Terms (SNOMED CT) was produced by merging SNOMED Reference Terminology (RT) with Clinical Terms version 3 (CTV3). It was first released in January 2002. This paper summarizes the overall size of the terminology and its rates of change over a period of three calendar years, comprising six subsequent releases each occurring at six month intervals. Rates of change in raw table size are reported for the concepts, descriptions, and relationships tables. Other measures of change are the number of identifiers made inactive and the reasons for this, as well as the number and rate of changes in the subsumption hierarchies and defining relationships. Awareness of the rate of change in the terminology can help terminology developers focus attention on needed infrastructure support and capacity for handling updates and refinements, and can help application developers by highlighting the need for managing terminology change in applications.

Subject Headings↗

Integrating Osteopathic terminology into SNOMED CT.

SNOMED CT is a controlled medical terminology which has been licensed by the National Library of Medicine and recommended as the general terminology of choice by the National Committee on Vital and Health Statistics for the development of the electronic medical record. Osteopathic terminology is unique to Osteopathic practitioners and must be included in any terminology if the terminology is to meet the needs of the Osteopathic community. The Authorized Osteopathic Thesaurus was used as a resource and compared with the content of SNOMED CT. It was found that a large number of concepts which were of importance in documenting Osteopathic encounters were not included in SNOMED CT. The decision was made to integrate this content into SNOMED CT.

Osteopathic Medicine↗

Distributed cognition and knowledge-based controlled medical terminologies.

Controlled medical terminologies (CMTs) are playing central roles in clinical information systems and medical knowledge resource applications. As these terminologies grow, they are able to support more complex tasks but require more intensive efforts to create and maintain them. Several terminologies are evolving into knowledge bases of medical concepts. The knowledge they include is being used to support distributed cognition in two forms: complex medical decisions involving multiple people and applications, and coordination of maintenance of the terminologies themselves.

Artificial Intelligence↗

Medical knowledge reengineering--converting major portions of the UMLS into a terminological knowledge base.

We describe a semi-automatic knowledge engineering approach for converting the human anatomy and pathology portion of the UMLS metathesaurus into a terminological knowledge base. Particular attention is paid to the proper representation of part-whole hierarchies, which complement taxonomic ones as a major hierarchy-forming principle for anatomical knowledge. Our approach consists of four steps. First, concept definitions are automatically generated from the metathesaurus, with LOOM as the target language. Second, integrity checking of the emerging taxonomic and partonomic hierarchies is automatically carried out by the terminological classifier. Third, terminological cycles and inconsistencies are manually eliminated and, in the last step, the knowledge base built this way is incrementally refined by a medical expert. Our experiments were run on a terminological knowledge base which is composed of 164,000 concepts and 76,000 relations. Empirical evidence for the lack of logical consistency, adequacy and improper granularity of the UMLS knowledge source is given, and finally, assessments of what kind of efforts are needed to render the formal target representation structures complete and empirically adequate.

Anatomy↗

Developing the ontological foundations of a terminological system for end-stage diseases, organ failure, dialysis and transplantation.

The Etablissement français des Greffes (EfG) is a state agency dealing with Public Health issues related to organ, tissue and cell transplantation in France. The evaluation of organ retrieval and transplantation activities, one of its missions, is supported by a national information system (EfG-IS). The EfG-IS is moving towards a new n-tier architecture comprising a terminology server for end-stage diseases, organ failure, dialysis and transplantation (EfG-TS). Following a preliminary audit of the existing coding system and in order to facilitate data recording, to improve the quality of information, to assume compatibility with terminological existing standards and to allow semantic interoperability with other local, national or international registries, a specific work has been conducted on the thesauri to integrate within the EfG-TS. In this paper focusing on the server's content rather than the container, we report first the functional and cognitive requirements that resulted from the preliminary audit. We then describe the methodological approach used to build the terminological server on "sound ontological foundations". We performed the semantic analysis of existing medical terms to set up disease description frame-like structures. These diseases description frames consist of a limited set of nosological discriminating slots such as etiology, semiology, pathology, evolution and associated diseases. Each relevant medical term is thus associated to a concept defined and inserted within a hierarchy according to disease description frame resulting from the semantic analysis. Last, because this terminological server is shared by various transplant and dialysis centers to record patient data at different time point, contextualization of terms appeared as one of the functional requirements. We will also point out various contexts for medical terms and how they have been taken into account.

Automation↗

Practical development of re-usable terminologies: GALEN-IN-USE and the GALEN Organisation.

Medical terminology is now playing a key role in medical software. This requires new techniques with which many clinical users, classification experts and applications developers are unfamiliar. There is a conflict in that the more re-usable techniques for terminology needed to support sharing of information among many different applications are more difficult to use for any one application. A layered approach to re-use is described which combines techniques from first generation systems and relatively easily understood second generation systems with the formal rigour of third generation systems to resolve this conflict. The methodology also provides a potentially rigorous approach to defining the relationship between terminology and structure in the electronic healthcare record architecture. It provides a natural migration pathway from existing systems to powerful re-usable multilingual terminologies.

Expert Systems↗

Terminological problems in information retrieval.

This is the first in the series of the papers on an application of the systems analytic approach to evaluation of information retrieval (IR). At the beginning, the importance of consistent terminology in information retrieval is discussed, and different definitions of "information retrieval" and "IR system" are presented. The importance of identifying boundaries of the IR system for clarifying terminological differences is discussed. The terminological problems in IR are summarized, and some of the existing approaches to their solution are identified. A historical overview of IR research is presented in order to explain the existing terminological differences and to create a common basis for a discussion of evaluation approaches to IR.

Databases, Bibliographic↗

Can we achieve international agreement on terminologies and definitions used to describe abnormalities of menstrual bleeding?

BACKGROUND: There is considerable worldwide confusion in the use of terminologies and definitions around the symptom of abnormal uterine bleeding (AUB), and these are leading increasingly to difficulties in setting up multinational clinical trials and in interpreting the results of studies undertaken in single centres. An international initiative was established to develop an agreement process to recommend clear, simple terminologies and definitions with the potential for wide acceptance. METHODS: After widespread consultation with relevant international and national organizations, journal editors and individuals, a modified Delphi process was developed to assess the current use of terminologies followed by a structured face-to-face meeting of 35 clinicians (mostly gynaecologists) and scientists in Washington. Focused small group discussions led to plenary assessment of concepts and recommendations using an electronic keypad voting system. RESULTS: There was almost universal agreement that poorly defined terms of classical origin used in differing ways in the English medical language should be discarded and that these should be replaced by simple, descriptive terms with clear definitions which have the potential to be understood by health professional and patient alike and which can be translated into most languages. The major recommendations were to replace terms such as menorrhagia, metrorrhagia, hypermenorrhoea and dysfunctional uterine bleeding. Suggestions for potentially suitable replacement terms and definitions are made. CONCLUSIONS: A simple terminology has been recommended for the description and definition of symptoms and signs of AUB. This manuscript should be a living document and should be part of an ongoing process with international medical and community debate. Classification of causes, investigations and cultural and quality of life issues should be part of the ongoing process.

Delphi Technique↗

Standardized terminology for aesthetic ophthalmic plastic surgery.

PURPOSE: To determine whether existing Systemized Nomenclature of Medicine (SNOMED) terminology adequately describes aesthetic concepts commonly encountered in the oculoplastic and facial plastic surgery setting. METHODS: This was a noncomparative case series. A panel of three oculoplastic surgeons compiled a list of unique concepts describing specialized aesthetic terminology commonly encountered in the oculoplastic and facial plastic surgery setting, with a specific focus on anatomic structures and descriptive findings. A standard electronic browser was used to manually search for the existence of equivalent matching concepts in SNOMED. A quality of match score from 1 to 3 was used with values of (1) no match, (2) partial match, and (3) equivalent match. RESULTS: An assessment of the existing aesthetic terminology revealed that a majority of concepts were not represented. Of 62 total concepts, 68% had no match, 13% had a partial match, and 19% had a complete match. CONCLUSIONS: SNOMED coverage of aesthetic terminology was less than in previous studies examining content representation for other medical topics. Such findings underscore a need for further development and refinement of aesthetic content.

Beauty↗

Use and misuse of cost-effectiveness terminology in the gastroenterology literature: a systematic review.

OBJECTIVES: The increased popularity of economic analyses for evaluating medical interventions has given rise to concern about the rigor with which economic constructs and terminology are used. True cost-effectiveness analysis considers both the costs and outcomes of alternative interventions. A systematic review of the gastroenterology literature was undertaken to evaluate how appropriately cost-effectiveness is assessed. METHODS: A structured MEDLINE search identified all studies published in major gastroenterology journals between 1980 and 1998 that claimed in their abstracts to have assessed the cost-effectiveness of an intervention. Blinded copies of eligible studies were assessed by two independent reviewers who used standard criteria to evaluate the use of economic terminology and key economic constructs. Discrepancies were resolved by consensus. Studies met a "broad criterion" for appropriateness by evaluating both costs and effects and a "strict criterion" by demonstrating dominance of one strategy or considering both incremental costs and incremental effects. RESULTS: Of 110 eligible studies, 77 (70.0%) met the broad criterion and 62 (56.4%) met the strict criterion for appropriateness. This did not seem to vary with either journal impact factor or publication year. Only eight of 18 studies reporting an incremental cost-effectiveness ratio compared its value to an external standard. Few studies explicitly stated their analytic perspective, and a minority of those with time horizons longer than 1 yr had discounted future costs or effects. CONCLUSIONS: Although most studies seem to use cost-effectiveness terminology well, there remains room to improve the rigor with which economic terminology and constructs are applied.

Canada↗

Knowledge-based approaches to the maintenance of a large controlled medical terminology.

OBJECTIVE: Develop a knowledge-based representation for a controlled terminology of clinical information to facilitate creation, maintenance, and use of the terminology. DESIGN: The Medical Entities Dictionary (MED) is a semantic network, based on the Unified Medical Language System (UMLS), with a directed acyclic graph to represent multiple hierarchies. Terms from four hospital systems (laboratory, electrocardiography, medical records coding, and pharmacy) were added as nodes in the network. Additional knowledge about terms, added as semantic links, was used to assist in integration, harmonization, and automated classification of disparate terminologies. RESULTS: The MED contains 32,767 terms and is in active clinical use. Automated classification was successfully applied to terms for laboratory specimens, laboratory tests, and medications. One benefit of the approach has been the automated inclusion of medications into multiple pharmacologic and allergenic classes that were not present in the pharmacy system. Another benefit has been the reduction of maintenance efforts by 90%. CONCLUSION: The MED is a hybrid of terminology and knowledge. It provides domain coverage, synonymy, consistency of views, explicit relationships, and multiple classification while preventing redundancy, ambiguity (homonymy) and misclassification.

Computer Simulation↗

The Unified Medical Language System: toward a collaborative approach for solving terminologic problems.

The approach taken by the Unified Medical Language System (UMLS), in which disparate terminology systems are integrated, has allowed construction of an electronic thesaurus (the Metathesaurus) that avoids imposing any restrictions upon the content, structure, or semantics of the source terminologies. As such, the UMLS has served as a unifying paradigm by providing appropriate links among equivalent entities that are used in different contexts or for different purposes. It accordingly provides a vehicle through which possibly orthogonal semantic models can co-exist within a single framework. This framework provides a model for the collaborative evolution of biomedical terminology and allows a synergistic relationship between the UMLS and its source terminology systems.

Systems Integration↗

A framework for comprehensive health terminology systems in the United States: development guidelines, criteria for selection, and public policy implications. ANSI Healthcare Informatics Standards Board Vocabulary Working Group and the Computer-Based Patient Records Institute Working Group on Codes and Structures.

Health care in the United States has become an information-intensive industry, yet electronic health records represent patient data inconsistently for lack of clinical data standards. Classifications that have achieved common acceptance, such as the ICD-9-CM or ICD, aggregate heterogeneous patients into broad categories, which preclude their practical use in decision support, development of refined guidelines, or detailed comparison of patient outcomes or benchmarks. This document proposes a framework for the integration and maturation of clinical terminologies that would have practical applications in patient care, process management, outcome analysis, and decision support. Arising from the two working groups within the standards community--the ANSI (American National Standards Institute) Healthcare Informatics Standards Board Working Group and the Computer-based Patient Records Institute Working Group on Codes and Structures--it outlines policies regarding 1) functional characteristics of practical terminologies, 2) terminology models that can broaden their applications and contribute to their sustainability, 3) maintenance attributes that will enable terminologies to keep pace with rapidly changing health care knowledge and process, and 4) administrative issues that would facilitate their accessibility, adoption, and application to improve the quality and efficiency of American health care.

Delivery of Health Care↗

Representing nursing activities within a concept-oriented terminological system: evaluation of a type definition.

OBJECTIVE: A type definition, as a component of the categorical structures of a concept-oriented terminology, must support nonambiguous concept representations and, consequently, comparisons of data that are represented using different terminologies. The purpose of the study was to evaluate the adequacy and utility of a proposed type definition for nursing activity concepts. DESIGN: Nursing activity terms (n = 1039) from patient charts and intervention terms from two nursing terminologies (Home Health Care Classification and Omaha System) were decomposed into the attributes of the proposed type definition-Delivery Mode, Activity Focus, and Recipient. MEASUREMENTS: Attributes of the type definition were coded as present or absent for each term by multiple raters. In addition, Delivery Mode was rated as Explicit or Implicit and Recipient was rated as Explicit, Implicit, or Ambiguous. The data were summarized using descriptive statistics. Inter-rater reliabilities were calculated for each attribute of the type definition. RESULTS: All attributes of the type definition were present in 73.9 percent of the chart terms, 91.3 percent of Home Health Care Classification intervention terms, and 63.5 percent of Omaha System intervention terms. While Delivery Mode and Activity Focus were almost universally present, Recipient was problematic. It was rated as ambiguous in 4.8 percent of the chart terms, 8.7 percent of Home Health Care Classification intervention terms, and 36.5 percent of Omaha System intervention terms. CONCLUSIONS: The study findings supported the adequacy and utility of the type definition. Further research is needed to refine the type definition and its use for representing nursing activity concepts within a concept-oriented terminological system.

Evaluation Studies as Topic↗

From data to knowledge through concept-oriented terminologies: experience with the Medical Entities Dictionary.

Knowledge representation involves enumeration of conceptual symbols and arrangement of these symbols into some meaningful structure. Medical knowledge representation has traditionally focused more on the structure than the symbols. Several significant efforts are under way, at local, national, and international levels, to address the representation of the symbols though the creation of high-quality terminologies that are themselves knowledge based. This paper reviews these efforts, including the Medical Entities Dictionary (MED) in use at Columbia University and the New York Presbyterian Hospital. A decade's experience with the MED is summarized to serve as a proof-of-concept that knowledge-based terminologies can support the use of coded patient data for a variety of knowledge-based activities, including the improved understanding of patient data, the access of information sources relevant to specific patient care problems, the application of expert systems directly to the care of patients, and the discovery of new medical knowledge. The terminological knowledge in the MED has also been used successfully to support clinical application development and maintenance, including that of the MED itself. On the basis of this experience, current efforts to create standard knowledge-based terminologies appear to be justified.

Artificial Intelligence↗