Ontologies in cross-language information retrieval

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.

Automatic processing of multilingual medical terminology: applications to thesaurus enrichment and cross-language information retrieval

Advanced learning algorithms for cross-language patent retrieval and classification

On the role of the UMLS in supporting diagnosis generation proposed by Large Language Models

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.

Objectives: A controlled vocabulary for chief complaint (CC) will facilitate clinical guidelines, emergency department (ED) surveillance, and third-party claims review. In an earlier pilot study, automated efforts to develop a CC vocabulary were conducted using natural language processing (NLP) of free text ED CC terms. The resulting standardized terms were then compared to the controlled vocabularies in the Unified Medical Language System (UMLS); only 14% of the ED CC free text terms matched a UMLS concept. The objective of this study was to apply and evaluate a combination of automated and manual methods for processing ED CC terms, in order to improve the match rate with UMLS concepts. Methods: In this retrospective secondary data analysis, we used corpus linguistics methods to collocate free text CC data from 3 university tertiary referral center EDs (rural, urban, and suburban) for all ED visits during 1/01. First, we evaluated how many CC terms matched a UMLS concept prior to any processing. The terms that did not match a UMLS concept were then manually examined by the investigator, who used domain knowledge to identify patterns in the data. NLP techniques were then applied, moving from simple to more aggressive techniques. The resulting CC terms were again compared to the UMLS to determine the match rate with standard concepts. Results: There were 6,900 visits, and 6,054 unique CC terms recorded during the 1/01. Prior to any processing, 22% of the terms matched a UMLS concept. 3 patterns in the data were identified: punctuation (N/V/D), acronyms (BRBPR), and modifiers (mild/moderate/severe). After addressing the patterns with NLP techniques, 35% of the remaining CC terms then matched a UMLS concept. Conclusions: We increased the match rate of CC terms with UMLS concepts with a combination of manual and automated techniques. Additional review by domain experts and further NLP are needed to identify concepts for the nonmatched ED CC terms. This study provides the foundation for a controlled ED CC vocabulary.

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.

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.

Mapping clinical attributes from hospital information systems to standardized terminologies may allow their scientific reuse for multicenter studies. The Unified Medical Language System (UMLS) defines synonyms in different terminologies, which could be valuable for achieving semantic interoperability between different sites. Here we aim to explore the potential relevance of UMLS concepts and associated semantic relations for widely used clinical terminologies in a German university hospital. To semi-automatically examine a sample of the 200 most frequent codes from Erlangen University Hospital for three relevant terminologies, we implemented a script that queries their UMLS representation and associated mappings via a programming interface. We found that 94% of frequent diagnostic codes were available in UMLS, and that most of these codes could be mapped to other terminologies such as SNOMED CT. We observed that all examined laboratory codes were represented in UMLS, and that various translations to other languages were available for these concepts. The classification that is most widely used in German hospital for documenting clinical procedures was not originally represented in UMLS, but external mappings to SNOMED CT allowed identifying UMLS entries for 90.5% of frequent codes. Future research could extend this investigation to other code sets and terminologies, or study the potential utility of available mappings for specific applications.

BackgroundThe widely known terminology gap between health professionals and health consumers hinders effective information seeking for consumers.ObjectiveThe aim of this study was to better understand consumers’ usage of medical concepts by evaluating the coverage of concepts and semantic types of the Unified Medical Language System (UMLS) on diabetes-related postings in 2 types of social media: blogs and social question and answer (Q&A).MethodsWe collected 2 types of social media data: (1) a total of 3711 blogs tagged with “diabetes” on Tumblr posted between February and October 2015; and (2) a total of 58,422 questions and associated answers posted between 2009 and 2014 in the diabetes category of Yahoo! Answers. We analyzed the datasets using a widely adopted biomedical text processing framework Apache cTAKES and its extension YTEX. First, we applied the named entity recognition (NER) method implemented in YTEX to identify UMLS concepts in the datasets. We then analyzed the coverage and the popularity of concepts in the UMLS source vocabularies across the 2 datasets (ie, blogs and social Q&A). Further, we conducted a concept-level comparative coverage analysis between SNOMED Clinical Terms (SNOMED CT) and Open-Access Collaborative Consumer Health Vocabulary (OAC CHV)—the top 2 UMLS source vocabularies that have the most coverage on our datasets. We also analyzed the UMLS semantic types that were frequently observed in our datasets.ResultsWe identified 2415 UMLS concepts from blog postings, 6452 UMLS concepts from social Q&A questions, and 10,378 UMLS concepts from the answers. The medical concepts identified in the blogs can be covered by 56 source vocabularies in the UMLS, while those in questions and answers can be covered by 58 source vocabularies. SNOMED CT was the dominant vocabulary in terms of coverage across all the datasets, ranging from 84.9% to 95.9%. It was followed by OAC CHV (between 73.5% and 80.0%) and Metathesaurus Names (MTH) (between 55.7% and 73.5%). All of the social media datasets shared frequent semantic types such as “Amino Acid, Peptide, or Protein,” “Body Part, Organ, or Organ Component,” and “Disease or Syndrome.”ConclusionsAlthough the 3 social media datasets vary greatly in size, they exhibited similar conceptual coverage among UMLS source vocabularies and the identified concepts showed similar semantic type distributions. As such, concepts that are both frequently used by consumers and also found in professional vocabularies such as SNOMED CT can be suggested to OAC CHV to improve its coverage.

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.

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.

A major challenge in Cross-Language Information Retrieval (CLIR) is the adoption of translation knowledge in retrieval models, as it affects the term weighting which is known to highly impact the retrieval performance. In this paper, we present an analytical study of using translation knowledge in CLIR. In particular, by adopting axiomatic analysis framework, we formulate the impacts of translation knowledge on document ranking as constraints that any cross-language retrieval model should satisfy. We then consider the state-of-the-art CLIR methods and check whether they satisfy these constraints. Finally, we show through empirical evaluation that violating one of the constraints harms the retrieval performance significantly which calls for further investigation.

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

In the recent few years, neural-network-based word embeddings have been widely used in text mining. However, the dense representations of word embeddings act as a black box and lack interpretability. Even though word embeddings are able to capture semantic regularities in free text documents, it is not clear what kinds of semantic relations can be represented by word embeddings and how semantically-related terms can be retrieved from word embeddings. In this study, we propose a novel approach to explore the semantic relations in neural embeddings using extrinsic knowledge from WordNet and Unified Medical Language System (UMLS). We trained multiple word embeddings using health-related articles in Wikipedia. We then evaluated the performance of the different word embeddings in semantic relation term retrieval tasks. This study shows that word embeddings can group terms with diverse semantic relations together.