A Semantic Network for Modeling Biological Knowledge in Multiple Databases

Efficient clinical information retrieval tasks like entity recognition, relation suggestions, summarization etc, require a comprehensive, extensive, unambiguous and well structured medical knowledge base. One of the largest Metathesaurus, UMLS (Unified Medical Language System), is a repository of biomedical dictionaries developed by the US National Library of Medicine (NLM) and widely used in medical domain. UMLS Metathesaurus includes the dictionaries like SNOMED-CT, National Center for Biotechnology Information (NCBI) taxonomy, Medical Subject Headings (MeSH), Online Mendelian Inheritance in Man (OMIM) etc. As it has integrated data from different sources, it contains different kinds of ambiguity, which is problematic for all clinical information retrieval tasks that use it. In this paper, we describe our methodology of curating the UMLS metathesaurus to create a centralized knowledge base that can be used as a knowledge base for a variety of clinical NLP systems. We have also developed a process of updating the curated centralized knowledge base with a newer version of UMLS such that there is no need to repeat the whole process. We have also presented the comparative results of a Clinical Entity Recognition (CER) using our curated centralized knowledge base and original UMLS database.

Analyzing polysemous concepts from a clinical perspective: Application to auditing concept categorization in the UMLS

This paper describes preliminary work evaluating automated semantic indexing of radiology imaging reports to represent images stored in the Image Engine multimedia medical record system at the University of Pittsburgh Medical Center. The authors used the SAPHIRE indexing system to automatically identify important biomedical concepts within radiology reports and represent these concepts with terms from the 1998 edition of the U.S. National Library of Medicine's Unified Medical Language System (UMLS) Metathesaurus. This automated UMLS indexing was then compared with manual UMLS indexing of the same reports. Human indexing identified appropriate UMLS Metathesaurus descriptors for 81% of the important biomedical concepts contained in the report set. SAPHIRE automatically identified UMLS Metathesaurus descriptors for 64% of the important biomedical concepts contained in the report set. The overall conclusions of this pilot study were that the UMLS metathesaurus provided adequate coverage of the majority of the important concepts contained within the radiology report test set and that SAPHIRE could automatically identify and translate almost two thirds of these concepts into appropriate UMLS descriptors. Further work is required to improve both the recall and precision of this automated concept extraction process.

The Unified Medical Language System metathesaurus and medical semantic network (National Library of Medicine, Meta 1.3, 1993) currently contains 270,797 medical terms derived from multiple controlled vocabularies, including ICD-9, ACR, MeSH, CPT, and SNOMED. We briefly describe the structure and content of Meta 1.3, focusing on its potential value to the radiological community.

Significance. Early detection of axial spondyloarthritis (axSpA) is a complex clinical task. Quality improvement of axSpA diagnostics in primary care settings is possible with the help of decision-making information systems based on the ontological approach application. The key stage of the decision-making system development consists of the elaboration of a set of clinical terms. This set should fully describe clinical area or sub-area under study. One of the essential requirements is compliance of the clinical terms used with the existing clinical nomenclatures. Currently, the largest set of clinical terms is the Unified Medical Language System (UMLS) metathesaurus. The majority of UMLS terms is presented in English only. The development of tools for the analysis of unstructured texts and recognition of clinically relevant UMLS entities make it possible to elaborate a set of terms describing axSpA diagnostic aspects. This will also help to compile a list of UMLS terminology nomenclatures for their priority adaptation and expert translation into Russian. The purpose of this study is to develop an automated system for recognizing clinically relevant UMLS terms in texts of the English-language articles. Material and methods. The research material has included English terms (11.2 million) aggregated from 76 nome6nclatures of the current UMLS (2022AB) version. In addition, the study has used texts of PubMed clinical abstracts in English. Queries to the UMLS graph model, semantic algorithms for unstructured texts and machine-learning methods have been applied for data collection and analysis. Results. The study has elaborated a set of high-accuracy regular expressions (F1-score=98%) for metadata elimination from the text corpus. Then the authors have identified patterns for searching clinically relevant terms in the aggregated set of UMLS concepts. Using a logistic regression algorithm, the authors have trained a binary classification model. Input data for the created classificatory are information about an UMLS term. Output data are a label indicating the presence or absence of clinical relevance. Conclusion. The binary classification model has been validated individually and double-tested on different data samples. Values of the accuracy, sensitivity and specificity of metrics equal to 91%, 90% and 91%, respectively, for the validation sample (a number of axSpA terms). In addition, this model has been tested on the sets of terms aggregated for any two diseases. Values of the accuracy metric equal to 91% and 90%, respectively. With the help of the developed machine-learning model, the study has estimated that UMLS contains 1.5 million unique terms applicable to describing a clinical picture. In addition, lists of priority UMLS data sources and thematic groups have been compiled. These clinically relevant UMLS terms should be adapted and translated into Russian as soon as possible.

The Unified Medical Language System (UMLS) integrates many well-established biomedical terminologies. The UMLS's semantic network (SN) can help orient users to the vast knowledge content of the Metathesaurus via its abstract conceptual view. However, the SN itself is large and complex, and may still be difficult to comprehend. Our technique partitions the SN into even higher-level abstract entities which are amenable to display on limited-sized computer screens. The basis for the partitioning is the distribution of the relationships within the SN. The results of applying our technique to the UMLS are discussed.

In the domain of biomedical and health informatics, ontologies are widely used to capture knowledge ranging from bioinformatics such as gene, protein, protein interactions, etc. to clinical/healthcare informatics knowledge such as diseases, symptoms, treatment, medication, etc. Currently, one medical knowledge source that encapsulates a broad spectrum of medical knowledge is the Unified Medical Language System (UMLS), which can be defined as a compendium of diverse medical ontological standards. The primary components of the UMLS are: Semantic Network (UMLS-SN) – designed by interconnecting well-defined semantic types with semantic relationships, and Metathesaurus (UMLS-META) – the base of UMLS system that is comprised of millions of medical concepts from diverse medical standards. However, within the biomedical and health informatics community, the concepts of software engineering and domain modeling (using meta-models such as ERD, UML, and XML) are very successful in designing and implementing biomedical/health domain application models. In the current status, the UMLS-SN is primarily employed for classification of medical concepts in UMLS-META, but UMLS-SN knowledge can't be viewed or employed as a modeling framework for designing ontological models and is restricted to the UMLS environment. Thus, the impact of the biomedical semantics captured by UMLS-SN might be minimal in medical facilities, research and healthcare organizations that are highly influenced by software engineering, meta-models and domain model-based practices. In order fill this gap, the authors propose a meta-modeling framework for UMLS-SN based on the UML Profile (built using UML meta-model) that will result in a customized domain specific meta-model. This specialized meta-model that encapsulates the medical knowledge semantics of UMLS-SN can then be employed for designing ontological models or relevant healthcare application models and simultaneously be coherent with software meta-models and domain modeling practices.

The Unified Medical Language System (UMLS) combines many well-established authoritative medical informatics terminologies in one knowledge representation system. Such a resource is very valuable to the health care community and industry. However, the UMLS is very large and complex and poses serious comprehension problems for users and maintenance personnel. The authors present a representation to support the user's comprehension and navigation of the UMLS. An object-oriented database (OODB) representation is used to represent the two major components of the UMLS-the Metathesaurus and the Semantic Network-as a unified system. The semantic types of the Semantic Network are modeled as semantic type classes. Intersection classes are defined to model concepts of multiple semantic types, which are removed from the semantic type classes. The authors provide examples of how the intersection classes help expose omissions of concepts, highlight errors of semantic type classification, and uncover ambiguities of concepts in the UMLS. The resulting UMLS OODB schema is deeper and more refined than the Semantic Network, since intersection classes are introduced. The Metathesaurus is classified into more mutually exclusive, uniform sets of concepts. The schema improves the user's comprehension and navigation of the Metathesaurus. The UMLS OODB schema supports the user's comprehension and navigation of the Metathesaurus. It also helps expose and resolve modeling problems in the UMLS.

Visionary medical informaticist who laid the groundwork for PubMed

In 1986, the National Library of Medicine (NLM) assembled a large multidisciplinary, multisite team to work on the Unified Medical Language System (UMLS), a collaborative research project aimed at reducing fundamental barriers to the application of computers to medicine. Beyond its tangible products, the UMLS Knowledge Sources, and its influence on the field of informatics, the UMLS project is an interesting case study in collaborative research and development. It illustrates the strengths and challenges of substantive collaboration among widely distributed research groups. Over the past decade, advances in computing and communications have minimized the technical difficulties associated with UMLS collaboration and also facilitated the development, dissemination, and use of the UMLS Knowledge Sources. The spread of the World Wide Web has increased the visibility of the information access problems caused by multiple vocabularies and many information sources which are the focus of UMLS work. The time is propitious for building on UMLS accomplishments and making more progress on the informatics research issues first highlighted by the UMLS project more than 10 years ago.

This paper describes the development and testing of the Medical Concept Mapper, a tool designed to facilitate access to online medical information sources by providing users with appropriate medical search terms for their personal queries. Our system is valuable for patients whose knowledge of medical vocabularies is inadequate to find the desired information, and for medical experts who search for information outside their field of expertise. The Medical Concept Mapper maps synonyms and semantically related concepts to a user's query. The system is unique because it integrates our natural language processing tool, i.e., the Arizona (AZ) Noun Phraser, with human-created ontologies, the Unified Medical Language System (UMLS) and WordNet, and our computer generated Concept Space, into one system. Our unique contribution results from combining the UMLS Semantic Net with Concept Space in our deep semantic parsing (DSP) algorithm. This algorithm establishes a medical query context based on the UMLS Semantic Net, which allows Concept Space terms to be filtered so as to isolate related terms relevant to the query. We performed two user studies in which Medical Concept Mapper terms were compared against human experts' terms. We conclude that the AZ Noun Phraser is well suited to extract medical phrases from user queries, that WordNet is not well suited to provide strictly medical synonyms, that the UMLS Metathesaurus is well suited to provide medical synonyms, and that Concept Space is well suited to provide related medical terms, especially when these terms are limited by our DSP algorithm.

BackgroundThe Unified Medical Language System (UMLS) has been a critical tool in biomedical and health informatics, and the year 2021 marks its 30th anniversary. The UMLS brings together many broadly used vocabularies and standards in the biomedical field to facilitate interoperability among different computer systems and applications.ObjectiveDespite its longevity, there is no comprehensive publication analysis of the use of the UMLS. Thus, this review and analysis is conducted to provide an overview of the UMLS and its use in English-language peer-reviewed publications, with the objective of providing a comprehensive understanding of how the UMLS has been used in English-language peer-reviewed publications over the last 30 years.MethodsPubMed, ACM Digital Library, and the Nursing & Allied Health Database were used to search for studies. The primary search strategy was as follows: UMLS was used as a Medical Subject Headings term or a keyword or appeared in the title or abstract. Only English-language publications were considered. The publications were screened first, then coded and categorized iteratively, following the grounded theory. The review process followed the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines.ResultsA total of 943 publications were included in the final analysis. Moreover, 32 publications were categorized into 2 categories; hence the total number of publications before duplicates are removed is 975. After analysis and categorization of the publications, UMLS was found to be used in the following emerging themes or areas (the number of publications and their respective percentages are given in parentheses): natural language processing (230/975, 23.6%), information retrieval (125/975, 12.8%), terminology study (90/975, 9.2%), ontology and modeling (80/975, 8.2%), medical subdomains (76/975, 7.8%), other language studies (53/975, 5.4%), artificial intelligence tools and applications (46/975, 4.7%), patient care (35/975, 3.6%), data mining and knowledge discovery (25/975, 2.6%), medical education (20/975, 2.1%), degree-related theses (13/975, 1.3%), digital library (5/975, 0.5%), and the UMLS itself (150/975, 15.4%), as well as the UMLS for other purposes (27/975, 2.8%).ConclusionsThe UMLS has been used successfully in patient care, medical education, digital libraries, and software development, as originally planned, as well as in degree-related theses, the building of artificial intelligence tools, data mining and knowledge discovery, foundational work in methodology, and middle layers that may lead to advanced products. Natural language processing, the UMLS itself, and information retrieval are the 3 most common themes that emerged among the included publications. The results, although largely related to academia, demonstrate that UMLS achieves its intended uses successfully, in addition to achieving uses broadly beyond its original intentions.

Problem lists are tools to improve patient management. In the medical record, they connect diagnoses to therapy, prognosis, and psychosocial issues. Computer-based problem lists enhance paper-based approaches by enabling cost-containment and quality assurance applications, but they require clinically expressive controlled vocabularies. Because existing controlled vocabularies do not represent problem statements at a clinically useful level, we derived a new canonical problem statement vocabulary through semi-automated analysis and distillation of provider-entered problem lists collected over 6 years from 74,696 patients. We combined automated and manual methods to condense 891,770 problem statements entered by 1961 care providers at Grady Memorial Hospital in Atlanta, Georgia, to 15,534 Canonical Clinical Problem Statement System (CCPSS) terms. The nature and frequency of problem statements were characterized, interrelations among them were enumerated, and a database capturing the epidemiology of problems was created. The authors identified 23,503 problem relations (co-occurrences, sign-symptom complexes, and differential diagnoses) and 22,690 modifier words that further categorized "canonical" problems. To assess completeness, CCPSS content was compared with that of the 1997 Unified Medical Language System Metathesaurus (containing terms from 44 clinical vocabularies). Unified Medical Language System terms expressed 25% of individual CCPSS terms exactly (71% of problems by frequency), 27% partially, and 48% poorly or not at all. Clinicians judged that CCPSS terms completely captured their clinical intent for 84% of 686 randomly selected free-text problem statements. The CCPSS represents clinical concepts at a level exceeding that of previous approaches. A similar national approach could create a standardized, useful, shared resource for clinical practice.

We have recently mapped the Gene Ontology (GO), developed by the Gene OntologyConsortium, into the National Library of Medicine's Unified Medical LanguageSystem (UMLS). GO has been developed for the purpose of annotating gene productsin genome databases, and the UMLS has been developed as a framework forintegrating large numbers of disparate terminologies, primarily for the purpose ofproviding better access to biomedical information sources. The mapping of GO toUMLS highlighted issues in both terminology systems. After some initial explorationsand discussions between the UMLS and GO teams, the GO was integrated with theUMLS. Overall, a total of 23% of the GO terms either matched directly (3%) orlinked (20%) to existing UMLS concepts. All GO terms now have a corresponding,official UMLS concept, and the entire vocabulary is available through the web-basedUMLS Knowledge Source Server. The mapping of the Gene Ontology, with its focuson structures, processes and functions at the molecular level, to the existing broadcoverage UMLS should contribute to linking the language and practices of clinicalmedicine to the language and practices of genomics.

An enriched unified medical language system semantic network with a multiple subsumption hierarchy