The UMLS Metathesaurus is a syntactically uniform, concept-based, semantically enhanced representation of many of the world's authoritative biomedical vocabularies. Released several times a year, the Metathesaurus is becoming a common, longitudinally maintained source of the current versions of these vocabularies. As vocabularies become standards for reimbursement, reporting, interoperation, and use by applications, the vocabulary obtained from the Metathesaurus must be consistent with that obtainable from each vocabulary's authority. Effective with the first 2004 release, the Metathesaurus represents new and updated sources "transparently"--both users and applications are able to "see" each vocabulary in the Metathesaurus without any of the small losses of information introduced by abstractions used in previous versions. Thus, the Metathesaurus can continue to provide its many semantic and lexical value-added features while guaranteeing that original sources will be "visible" in intact form. Vocabulary users and application developers will benefit from the enhancements and economies of scale offered by the Metathesaurus, while preserving distinctions between content provided by external authorities and content added as part of the Metathesaurus development and maintenance process.

Clinical terminology servers are distinguished from more broadly based terminology servers intended for nomenclature development or mediation across classifications. Focusing upon the consistent and comparable entry of clinical observations, findings, and events, key desiderata are enumerated and expanded. These include 1) word normalization, 2) word completion, 3) target terminology specification, 4) spelling correction, 5) lexical matching, 6) term completion, 7) semantic locality, 8) term composition and 9) decomposition. Comparisons of this functionality to previously published models and specifications are made. Experience with a clinical terminology server, Metaphrase, is described.

Patient descriptors, or "problems," such as "brain metastases of melanoma" are an effective way for caregivers to describe patients. But most problems, e.g., "cubital tunnel syndrome" or "ulnar nerve compression," found in problem lists in an Electronic Medical Record (EMR) are not comparable computationally - in general, a computer cannot determine whether they describe the same or a related problem, or whether the user would have preferred "ulnar nerve compression syndrome." Metaphrase is a scalable, middleware component designed to be accessed from problem-manager applications in EMR systems. In response to caregivers' informal descriptors it suggests potentially equivalent, authoritative, and more formally comparable descriptors. Metaphrase contains a clinical subset of the 1997 UMLS Metathesaurus and some 10,000 "problems" from the Mayo Clinic and Harvard Beth Israel Hospital. Word and term completion, spelling correction, and semantic navigation, all combine to ease the burden of problem conceptualization, entry and formalization.

Creating, modifying, and maintaining a vocabulary is a new task that more healthcare enterprises are having to take on. There are today essentially no readily available vocabulary editing systems. This poster sets out a basic list of editing functions that knowledge workers will require - a minimal functionality list. Functions are explained and illustrated.

The nature of healthcare is changing, and with these changes come new information needs. Many Electronic Medical Record (EMR) systems ale appearing which require authoritative names for diseases, therapies, procedures, symptoms and indications. Driving this requirement for authoritative names in the EMR arE a variety of institutional needs and reimbursement imperatives. For example, only if every instance of a disease is correctly coded in the EMR will accurate outcomes analysis be possible.

One way to fulfill point-of-care knowledge needs is to present caregivers with a visual representation of the available "answers". Using such a representation, caregivers can recognize what they want, rather than have to recall what they need, and then navigate to an appropriate answer. Given selected pieces of information from a computer-based patient record, an interface can anticipate certain knowledge needs by initializing caregiver navigation in a semantic neighborhood of answers likely to be relevant to the patient at hand. These notions draw heavily on two collaborative projects--the U.S. National Library of Medicine Unified Medical Language System and the U.S. National Cancer Institute Knowledge Server. Both of these projects support navigation because they make the structure of medical knowledge explicit in a way that can be exploited by human interfaces.

The Metathesaurus is a machine-created, human edited and enhanced synthesis of authoritative biomedical terminologies. Its formal properties permit it to be a) exploited by computers, and b) modified and enhanced without compromising that usage. If further constraints were imposed on the existence and identity of Metathesaurus relationships, i.e., if every Metathesaurus concept had a "genus" and a "differentia," then the Metathesaurus could be converted into an "Aristotelian Hierarchy." In this sense, a genus is a concept that classifies another concept, and a differentia is a concept that distinguishes the classified concept from all other concepts in the same class. Since, in principle, these constraints would make the Metathesaurus easier to leverage and maintain computationally, it is interesting to ask to what degree the maintenance and enhancement procedures now in place are producing a Metathesaurus that is also an "Aristotelian Hierarchy." Given a liberal interpretation of the current Metathesaurus schema, the proportion of the Metathesaurus that is "Aristotelian" in each annual version is increasing in spite of dramatic concurrent increases in the number of Metathesaurus concepts. Without formality there is no modifiability nor scalability. [1] We need formal methods and computer-based tools that can help us with the task [of controlled medical vocabulary construction]. We need research in which controlled vocabulary development is the focus rather than a stepping stone for work on other theories and applications. [2]

The UMLS Metathesaurus is a compilation of names, relationships, and associated information from a variety of biomedical naming systems representing different views of biomedical practice or research. The Metathesaurus is organized by meaning, and the fundamental unit in the Metathesaurus is the concept. Differing names for a biomedical meaning are linked in a single Metathesaurus concept. Extensive additional information describing semantic characteristics, occurrence in machine-readable information sources, and how concepts co-occur in these sources is also provided, enabling a greater comprehension of the concept in its various contexts. The Metathesaurus is not a standardized vocabulary; it is a tool for maximizing the usefulness of existing vocabularies. It serves as a knowledge source for developers of biomedical information applications and as a powerful resource for biomedical information specialists.

Meta-1.1, the UMLS metathesaurus, represents medical knowledge in the forms of names of concepts and links between those concepts. The representations of the semantic neighborhood of a concept can be thought of as dimensions of the property of semantic locality and include term information (broader, narrower, or otherwise related), the contextual information (parent-child, siblings in a hierarchy), the semantic types, and the co-occurrence data (links discovered empirically from concepts used to index the medical literature.) The degree of redundancy of each of these dimensions was investigated by reviewing the extent of multiple presentations of concepts which appear as related to a given concept. The degree of overlap was surprisingly small. While the co-occurrence data finds some of the links represented by other dimensions, those links are but minute fractions of the vast amount of co-occurrence derived links. Because parent-child relationships are often subsumptive (or categorical) in nature, it might be expected that siblings usually share the same semantic types. While true in the aggregate, the wide variance in percent of types shared may reflect the intended usages of the source vocabularies. Noun phrases were extracted from the definitions of 40 concepts in Meta-1 in order to assess systematically the coverage of important concepts by Meta-1, and to assess whether the links between these definitional concepts, which may have special value, and the concept being defined were indeed present. Out of 161 of these definitional concepts, 29 were not represented in Meta-1, and 37 of those represented in Meta-1 had no direct link to the concept they were defining.(ABSTRACT TRUNCATED AT 250 WORDS)

The third version of the UMLS Metathesaurus, Meta-1.2, to be released in October 1992, will have a simpler schema and simpler distribution formats than the first two versions, Meta-1.0 and Meta-1.1 released in October 1990 and 1991, respectively. For one thing, it will have only a single kind of entry (Concept), rather than three (Concept, Related, and Synonym). Further, the Relational Format, will consist of four logical relations, or tables, instead of the nearly three score different tables used to represent the same kind of information in Meta-1.1. These four tables will contain, respectively, (1) the names of each concept, (2) the relationships between concepts, (3) attributes of the concepts, and (4) a word-based index into the concept names. We argue that the new schema and formats provide a better conceptual model of the Metathesaurus, and represent the information contained there more uniformly. Even though these changes are incremental and evolutionary, both users and software developers should find the Meta-1.2 significantly easier to understand, and the information contained in it significantly easier to use.

The linkage of disparate biomedical databases is an important goal of the Unified Medical Language (UMLS) Project. We conducted an experiment to investigate the feasibility of using UMLS resources to link databases in clinical genetics and molecular biology. References from MIM ("Mendelian Inheritance in Man") were lexically mapped to the equivalent citations in MEDLINE. The MeSH major subject headings by which the citations in a particular MIM entry had been indexed were used to develop a "genetic-disorder-centered view of the world" in Meta-1 (the first official version of the UMLS Metathesaurus). Our hypothesis was that these MeSH subject headings could provide access to a "semantic neighborhood" in Meta-1 that would be relevant to a particular genetic disorder. By browsing in this "semantic neighborhood," a user could select various combinations of terms with which to search MEDLINE through an interface between Meta-1 and Grateful Med. Such searches might retrieve citations that were more recent than those in MIM or that provided useful supplementary information. Since some MEDLINE records contain pointers to entries in GENBANK, information about genetic sequences related to a particular clinical genetic disorder could also be retrieved. This scenario was implemented for a small number of MIM entries, providing a concrete demonstration that linking disparate electronic databases in an important subdomain of biomedicine is relatively straightforward.

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.

The Unified Medical Language System (UMLS) is being developed by the National Library of Medicine (NLM) to provide uniform access to computer-based resources in biomedicine. For the foreseeable future, the foundation of the UMLS will be a metathesaurus of biomedical concepts, synthesized from existing biomedical nomenclatures and classification systems. META-1, the first version of the Metathesaurus, is available from the NLM on an experimental basis. It is being distributed on two CD-ROMs, one containing a HyperCard (implementation of META-1, called m-CD™. m-CD is a META-1 browser which will run on a 1MB or larger Apple Macintosh® computer equipped with a CD-ROM reader. Our demonstration of m-CD will assume no special knowledge of Macintoshes or META-1, and it will begin with receipt of META-1 “in the mail”. The demonstration will illustrate ways in which users and developers can use m-CD to explore the contents of META-1.