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Representation of clinical laboratory terminology in the Unified Medical Language System.

The Unified Medical Language System (UMLS) was examined to determine its coverage of clinical laboratory terminology in use at the Columbia-Presbyterian Medical Center (CPMC). The Metathesaurus (Meta-1) contains exact matches for 30% of 1460 CPMC laboratory terms and near matches for an additional 42%, with better coverage of atomic-level concepts ("substance" terms) than complex ones (tests and panels). The Semantic Network includes types for representing laboratory procedures (2), measured substances (at least 56) and sampled substances (at least 14), but no type to represent specimens. Few of the UMLS semantic relationships are applicable to the CPMC vocabulary. These results have implications for the utility of the UMLS for linking clinical databases to electronic medical information sources.

Clinical Laboratory Techniques

A schematic analysis of the Unified Medical Language System.

The UMLS is a complex collection of medical terms and relationships derived from standard classifications. Appreciating the scope and layout of these relations from text descriptions of relational schema is difficult. The graphical technique of Logical Data Structure (LDS) representation was employed to illustrate the UMLS schema as a data abstraction, affording additional insights that might otherwise escape notice. An LDS representation of the Metathesaurus offers the following advantages: 1) the separation of a viewpoint from physical data structures enables a global outline of the contents; 2) the graphical map makes the interrelation of data visible; and 3) the logical entities explicitly reflect the decision-making which was implicit or ambiguous in the relational scheme.

Models, Theoretical

Prototyping an institutional IAIMS/UMLS information environment for an academic medical center.

The paper describes a prototype information environment designed to link network-based information resources in an integrated fashion and thus enhance the information capabilities of an academic medical center. The prototype was implemented on a single Macintosh computer to permit exploration of the overall "information architecture" and to demonstrate the various desired capabilities prior to full-scale network-based implementation. At the heart of the prototype are two components: a diverse set of information resources available over an institutional computer network and an information sources map designed to assist users in finding and accessing information resources relevant to their needs. The paper describes these and other components of the prototype and presents a scenario illustrating its use. The prototype illustrates the link between the goals of two National Library of Medicine initiatives, the Integrated Academic Information Management System (IAIMS) and the Unified Medical Language System (UMLS).

Academic Medical Centers

An automatic indexing method for medical documents.

This paper describes MetaIndex, an automatic indexing program that creates symbolic representations of documents for the purpose of document retrieval. MetaIndex uses a simple transition network parser to recognize a language that is derived from the set of main concepts in the Unified Medical Language System Metathesaurus (Meta-1). MetaIndex uses a hierarchy of medical concepts, also derived from Meta-1, to represent the content of documents. The goal of this approach is to improve document retrieval performance by better representation of documents. An evaluation method is described, and the performance of MetaIndex on the task of indexing the Slice of Life medical image collection is reported.

Abstracting and Indexing

From patient reports to bibliographic retrieval: a Meta-1 front-end.

A software front-end has been programmed to help construct Medline query expressions from selected text in clinical records. The user "clicks" to choose pertinent words or phrases from the text with a pointing device and the words are translated into Medical Subject Headings (MeSH). The National Library of Medicine's Unified Medical Language System Meta-1 Thesaurus is used to look up the words selected by the user. The software traces through chains of synonyms to assemble a small set of MeSH indexing terms. The user then makes the final selection from among the MeSH terms and combines chosen terms using logical connectives to form a Medline query which is passed on to Grateful Med. This approach provides the clinical user with a natural starting point, the text of a patient report with no need to know the MeSH terminology. The software handles the translation that otherwise would necessitate looking up terms in MeSH guidebooks, as well as handling the added drudgery of checking out different synonyms. Preliminary evaluation of this approach with clinical trainees indicated that they find the front-end a straightforward way to search for literature relevant to a clinical case. Having a tool for immediate translation from clinical terminology to indexing terminology seems to be an important factor. Apparently minor issues in interface design, such as keeping the clinical report displayed simultaneously along with the search under construction, and keeping both visible during the search itself seem to help orient the user.

Grateful Med

The findings--diagnosis continuum: implications for image descriptions and clinical databases.

As part of the Unified Medical Language System (UMLS) project, we have been exploring the use of semantic net representation to build a medical ontology that can adapt to the needs and perspective of differing kinds of users with varying purposes. A principal objective is to facilitate indexing and retrieval of objects in a variety of target databases, using their own source vocabularies, while maintaining the representation of concepts to which these source vocabularies refer in a single consistent form, so that retrievals that span resource types can be accommodated. In addition, a particular area of deficiency of the existing UMLS Metathesaurus is that of clinical findings, a part of the problem being the multiple alternative views and granularity levels at which clinical findings are described in different target databases. The problem is particularly obvious when one examines the way in which image findings are described, which may be at a purely perceptual level, or at varying levels of aggregation into higher level observations or interpretations. We have developed a recursive model for representing observations and interpretations in a semantic net along a continuum of degree of aggregation, that appears to lend itself well to adaptation to varying perspectives.

Diagnosis, Computer-Assisted

Integrating the UMLS into VNS Retriever.

We are developing a networked resource for the National Library of Medicine's Unified Medical Language System. We call this resource the UMLS Retriever, which is an instance of our VNS Retriever architecture. Our prototype user interface makes use of the Virtual Notebook System Browser. The development of a networked UMLS service will result in numerous advantages to our user community.

Computer Communication Networks

Representation of clinical data using SNOMED III and conceptual graphs.

None of the coding schemes currently contained within the Unified Medical Language System (UMLS) is sufficiently expressive to represent medical progress notes adequately. Some coding schemes suffer from domain incompleteness, others suffer from the inability to represent modifiers and time references, and some suffer from both problems. The recently released version of the Systematized Nomenclature of Medicine (SNOMED III) is a potential solution to the data-representation problem because it is relatively domain complete, and because it uses a generative coding scheme that will allow the construction of codes that contain modifiers and time references. SNOMED III does have an important weakness, however. SNOMED III lacks a formalized system for using its codes; thus, it fails to ensure consistency in its use across different institutions. Application of conceptual-graph formalisms to SNOMED III can ensure such consistency of use. Conceptual-graph formalisms will also allow mapping of the resulting SNOMED III codes onto relational data models and onto other formal systems, such as first-order predicate calculus.

Medical Informatics Applications

Evaluation of a Meta-1-based automatic indexing method for medical documents.

This paper describes MetaIndex, an automatic indexing program that creates symbolic representations of documents for the purpose of document retrieval. MetaIndex uses a simple transition network parser to recognize a language that is derived from the set of main concepts in the Unified Medical Language System Metathesaurus (Meta-1). MetaIndex uses a hierarchy of medical concepts, also derived from Meta-1, to represent the content of documents. The goal of this approach is to improve document retrieval performance by better representation of documents. An evaluation method is described, and the performance of MetaIndex on the task of indexing the Slice of Life medical image collection is reported.

Abstracting and Indexing

Enhancing the Metathesaurus with clinically relevant concepts: anatomic representations.

To create a comprehensive taxonomy for medical concepts it is necessary to identify gaps and reconcile differences that exist between clinical, bibliographic, and other source vocabularies. As part of the Unified Medical Language System project, we have proposed enhancements to the Metathesaurus by the inclusion of terms from two source vocabularies with different unique perspectives or views. This process has disclosed a number of issues that arise as complexity increases. These issues must be resolved if the resultant Metathesaurus is to support the variety of uses for which it is intended.

Abstracting and Indexing

An evaluation of the source selection elements of the prototype UMLS Information Sources Map.

The Information Sources Map (ISM) is a component of the National Library of Medicine's Unified Medical Language System (UMLS) project. The ISM is intended to provide both human-readable and machine-interpretable information about the content, scope, and access conditions for various information sources such as databases, expert systems, and the organizations which make these information sources available. Automated source selection is supported by three types of indexing in the ISM: Medical Subject Heading (MeSH) terms and subheadings; Semantic Types from the UMLS Semantic Network; and Semantic Type Relations, which depict pairs of semantic types joined by a relationship chosen from the Semantic Network. This paper reports a study of the recall and precision of the source selection elements in the prototype version of the ISM.

Abstracting and Indexing

The Meta-1.2 engine: a refined strategy for linking biomedical vocabularies.

This paper presents a preliminary description of the database schema and associated procedures that are the foundation for the "engine" that will produce Meta-1.2. Meta-1.2 is the next incarnation of the Metathesaurus, which is one of the principal components of the National Library of Medicine's Unified Medical Language System (UMLS). We use the word "engine" as a generic term that includes a database and the programs that operate on it. While this design builds heavily upon previous work, it incorporates some major changes in philosophy. A major hypothesis is that the simple representation described here is suitable for any controlled vocabulary in the biomedical domain. Indeed, this hypothesis is central to a strategy for producing future versions of the Metathesaurus and for supporting collaboration with people who wish to contribute additional terms and relationships to the Metathesaurus. Another change involves the representation of classes and relationships. The revised database schema includes an explicit representation of the source or "authority" for relationships, which is analogous to the way that the sources of terms have been represented since the first version of the Metathesaurus. A sequence of steps utilizing the new representations to produce the Metathesaurus is presented.

Databases, Factual

The UMLS coverage of clinical radiology.

The informational content of clinical radiology reports was examined to determine the coverage of the Unified Medical Language System (UMLS) in relation to the terminology used by physicians in the Radiology Department of Columbia Presbyterian Medical Center (CPMC). The UMLS semantic network contained 17 semantic types which were compatible with the types of clinical information in the reports. The type of semantic categories missing from the UMLS consisted mainly of modifier information relating to certainty, degree, and change type of information. This type of information formed a substantial part of the domain. Although most of the informational categories were found in the UMLS semantic network, most of the domain terms were not. Our results strongly suggest that the UMLS could be a significant tool for developing clinical text processing applications if it were extended to cover clinical domains.

Evaluation Studies as Topic

From meaning to term: semantic locality in the UMLS Metathesaurus.

The Unified Medical Language System Metathesaurus represents the results of a synthesis of existing biomedical naming systems (thesauri). The naming and other information about the meanings in the Metathesaurus can be used to find the preferred naming of that meaning in the source chosen by the user, by exploiting the property of semantic locality. The aspects of semantic locality in the Metathesaurus which can be thus exploited are the terms, the semantic types, the use of that term in a source context, and the co-occurrence of terms in MEDLINE. To find how a meaning is named in the source of choice, a user must exploit one of these aspects of semantic locality, entering a term somehow related to the term being sought, and navigating to the preferred term. While the first three of these aspects of semantic locality are normative, the last is empirical. Testing of the utility of the aspects of semantic locality in information retrieval would require a uniform interface with 1, no Metathesaurus, 2, the Metathesaurus without the aspects in question, and 3, the Metathesaurus including all the aspects. Other potential uses of empirically derived semantic locality include defining or suggesting potentially relevant concepts in a given situation.

Semantics

Interactive query workstation: a demonstration of the practical use of UMLS knowledge sources.

The Interactive Query Workstation (IQW) has been developed to provide clinicians with a uniform program interface for retrieving medical-related information from various computer-based information resources. These resources can vary in content (bibliographic databases, drug information, general medical text databases), function (article retrieval, differential diagnosis, drug interaction detection, or drug dosage and administration information), and media formats (local hard disk, CD-ROM, local area network, or distant telecommunication link). IQW allows modular addition of new resources as well as extension of previously installed resources. The National Library of Medicine's three Unified Medical Language System (UMLS) Knowledge Sources, the Metathesaurus (Meta), the Semantic Network, and the Information Sources Map (ISM) have been incorporated into many aspects of IQW. Meta provides information about medical terminology and aids IQW in isolating the basic concepts from a clinician's question. The Semantic Network provides information about the categorization of concepts and possible relations between concepts. It also assists IQW in determining which queries are appropriate for a set of concepts contained in the clinician's question. The ISM provides information about the content available from a computer-based resources and aids IQW in selecting an appropriate resource from which to collect information. The computer-based resource selection is performed without user intervention. This interactive demonstration shows an environment which increases the accessibility of medical information to clinicians by utilizing the three UMLS Knowledge Sources.

Information Storage and Retrieval

Adding your terms and relationships to the UMLS Metathesaurus.

The National Library of Medicine's Unified Medical Language System [1] Metathesaurus contains the richest single corpus of biomedical names in existence. Yet, developers wishing to make use of the Metathesaurus will be confronted by users who want to add local terminology and relationships not already represented there. We urge developers to fill those needs, while, at the same time, they plan for the many consequences of unilateral Metathesaurus enhancement. Foremost among these consequences is the need to maintain local enhancements across subsequent releases of the Metathesaurus. These problems are illustrated via examples of candidate Metathesaurus enhancement terms in use at the Columbia-Presbyterian Medical Center (CPMC), at the Mayo Clinic, and in Current Disease Descriptions (CDD). Sharing and reuse of Metathesaurus enhancement methods may permit local enhancements to be used at other sites, and it may permit the global Metathesaurus utilization effort to benefit from economies of scale.

Terminology as Topic

An interlingua for electronic interchange of medical information: using frames to map between clinical vocabularies.

The proliferation of medical knowledge has led to the development of extensive dictionaries for electronically accessing information resources. The task of standardizing terminology used for electronic hospital records and for knowledge bases for medical expert systems and indexing the medical literature cannot easily be met by developing a single, monolithic "official" medical vocabulary. Developing a monolithic vocabulary would require a massive effort, and its existence would not guarantee its use by third-party payors, by practicing clinicians, or by developers of electronic medical information systems. Recognizing this, the National Library of Medicine (NLM) has begun to develop the Unified Medical Language System (UMLS) as a means of promoting electronic information exchange among systems with controlled vocabularies. The authors describe a frame-based system developed as an experimental approach to mapping between controlled clinical vocabularies.

Cluster Analysis

Representing medical knowledge: reconciling the present or creating the future?

Modern technology has sparked the creation of computing systems that perform many medically related tasks, but communication between these systems is limited, in part by differences in the terminology used for various purposes and in part by the changing nature of medical concepts. The Unified Medical Language System represents an attempt to find a means of translation between diverse knowledge systems. An alternative, which we propose, is to agree on a knowledge base for the future and make use of present accomplishments in moving toward that goal.

Abstracting and Indexing