scholarly journals A review of auditing techniques for the Unified Medical Language System

2020 ◽  
Vol 27 (10) ◽  
pp. 1625-1638 ◽  
Author(s):  
Ling Zheng ◽  
Zhe He ◽  
Duo Wei ◽  
Vipina Keloth ◽  
Jung-Wei Fan ◽  
...  

Abstract Objective The study sought to describe the literature related to the development of methods for auditing the Unified Medical Language System (UMLS), with particular attention to identifying errors and inconsistencies of attributes of the concepts in the UMLS Metathesaurus. Materials and Methods We applied the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) approach by searching the MEDLINE database and Google Scholar for studies referencing the UMLS and any of several terms related to auditing, error detection, and quality assurance. A qualitative analysis and summarization of articles that met inclusion criteria were performed. Results Eighty-three studies were reviewed in detail. We first categorized techniques based on various aspects including concepts, concept names, and synonymy (n = 37), semantic type assignments (n = 36), hierarchical relationships (n = 24), lateral relationships (n = 12), ontology enrichment (n = 8), and ontology alignment (n = 18). We also categorized the methods according to their level of automation (ie, automated systematic, automated heuristic, or manual) and the type of knowledge used (ie, intrinsic or extrinsic knowledge). Conclusions This study is a comprehensive review of the published methods for auditing the various conceptual aspects of the UMLS. Categorizing the auditing techniques according to the various aspects will enable the curators of the UMLS as well as researchers comprehensive easy access to this wealth of knowledge (eg, for auditing lateral relationships in the UMLS). We also reviewed ontology enrichment and alignment techniques due to their critical use of and impact on the UMLS.

2020 ◽  
Vol 12 (11) ◽  
pp. 199
Author(s):  
Rishi Saripalle ◽  
Mehdi Sookhak ◽  
Mahboobeh Haghparast

The Unified Medical Language System (UMLS) is an internationally recognized medical vocabulary that enables semantic interoperability across various biomedical terminologies. To use its knowledge, the users must understand its complex knowledge structure, a structure that is not interoperable or is not compliant with any known biomedical and healthcare standard. Further, the users also need to have good technical skills to understand its inner working and interact with UMLS in general. These barriers might cause UMLS usage concerns among inter-disciplinary users in biomedical and healthcare informatics. Currently, there exists no terminology service that normalizes UMLS’s complex knowledge structure to a widely accepted interoperable healthcare standard and allows easy access to its knowledge, thus hiding its workings. The objective of this research is to design and implement a light-weight terminology service that allows easy access to UMLS knowledge structured using the fast health interoperability resources (FHIR) standard, a widely accepted interoperability healthcare standard. The developed terminology service, named UMLS FHIR, leverages FHIR resources and features, and can easily be integrated into any application to consume UMLS knowledge in the FHIR format without the need to understand UMLS’s native knowledge structure and its internal working.


2020 ◽  
Vol 27 (10) ◽  
pp. 1510-1519
Author(s):  
Dongfang Xu ◽  
Manoj Gopale ◽  
Jiacheng Zhang ◽  
Kris Brown ◽  
Edmon Begoli ◽  
...  

Abstract Objective Concept normalization, the task of linking phrases in text to concepts in an ontology, is useful for many downstream tasks including relation extraction, information retrieval, etc. We present a generate-and-rank concept normalization system based on our participation in the 2019 National NLP Clinical Challenges Shared Task Track 3 Concept Normalization. Materials and Methods The shared task provided 13 609 concept mentions drawn from 100 discharge summaries. We first design a sieve-based system that uses Lucene indices over the training data, Unified Medical Language System (UMLS) preferred terms, and UMLS synonyms to generate a list of possible concepts for each mention. We then design a listwise classifier based on the BERT (Bidirectional Encoder Representations from Transformers) neural network to rank the candidate concepts, integrating UMLS semantic types through a regularizer. Results Our generate-and-rank system was third of 33 in the competition, outperforming the candidate generator alone (81.66% vs 79.44%) and the previous state of the art (76.35%). During postevaluation, the model’s accuracy was increased to 83.56% via improvements to how training data are generated from UMLS and incorporation of our UMLS semantic type regularizer. Discussion Analysis of the model shows that prioritizing UMLS preferred terms yields better performance, that the UMLS semantic type regularizer results in qualitatively better concept predictions, and that the model performs well even on concepts not seen during training. Conclusions Our generate-and-rank framework for UMLS concept normalization integrates key UMLS features like preferred terms and semantic types with a neural network–based ranking model to accurately link phrases in text to UMLS concepts.


1991 ◽  
Vol 11 (4_suppl) ◽  
pp. S89-S93 ◽  
Author(s):  
James J. Cimino ◽  
Soumitra Sengupta

The authors use an example to illustrate combining Integrated Academic Information Management System (IAIMS) components (applications) into an integral whole, to facilitate using the components simultaneously or in sequence. They examine a model for classifying IAIMS systems, proposing ways in which the Unified Medical Language System (UMLS) can be exploited in them.


2020 ◽  
Vol 27 (10) ◽  
pp. 1538-1546 ◽  
Author(s):  
Yuqing Mao ◽  
Kin Wah Fung

Abstract Objective The study sought to explore the use of deep learning techniques to measure the semantic relatedness between Unified Medical Language System (UMLS) concepts. Materials and Methods Concept sentence embeddings were generated for UMLS concepts by applying the word embedding models BioWordVec and various flavors of BERT to concept sentences formed by concatenating UMLS terms. Graph embeddings were generated by the graph convolutional networks and 4 knowledge graph embedding models, using graphs built from UMLS hierarchical relations. Semantic relatedness was measured by the cosine between the concepts’ embedding vectors. Performance was compared with 2 traditional path-based (shortest path and Leacock-Chodorow) measurements and the publicly available concept embeddings, cui2vec, generated from large biomedical corpora. The concept sentence embeddings were also evaluated on a word sense disambiguation (WSD) task. Reference standards used included the semantic relatedness and semantic similarity datasets from the University of Minnesota, concept pairs generated from the Standardized MedDRA Queries and the MeSH (Medical Subject Headings) WSD corpus. Results Sentence embeddings generated by BioWordVec outperformed all other methods used individually in semantic relatedness measurements. Graph convolutional network graph embedding uniformly outperformed path-based measurements and was better than some word embeddings for the Standardized MedDRA Queries dataset. When used together, combined word and graph embedding achieved the best performance in all datasets. For WSD, the enhanced versions of BERT outperformed BioWordVec. Conclusions Word and graph embedding techniques can be used to harness terms and relations in the UMLS to measure semantic relatedness between concepts. Concept sentence embedding outperforms path-based measurements and cui2vec, and can be further enhanced by combining with graph embedding.


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