Structural indicators for effective quality assurance of snomed ct

The Standardized Nomenclature of Medicine -- Clinical Terms (SNOMED CT -- further abbreviated as SCT) has been endorsed as a premier clinical terminology by many national and international organizations. The US Government has chosen SCT to play a significant role in its initiative to promote Electronic Health Record (EH R) country-wide. However, there is evidence suggesting that, at the moment, SCT is not optimally modeled for its intended use by healthcare practitioners. There is a need to perform quality assurance (QA) of SCT to help expedite its use as a reference terminology for clinical purposes as planned for EH R use. The central theme of this dissertation is to define a group-based auditing methodology to effectively identify concepts of SCT that require QA. As such, similarity sets are introduced which are groups of concepts that are lexically identical except for one word. Concepts in a similarity set are expected to be modeled in a consistent way. If not, the set is considered to be inconsistent and submitted for review by an auditor. Initial studies found 38% of such sets to be inconsistent. The effectiveness of these sets is further improved through the use of three structural indicators. Using such indicators as the number of parents, relationships and role groups, up to 70% of the similarity sets and 32.6% of the concepts are found to exhibit inconsistencies. Furthermore, positional similarity sets, which are similarity sets with the same position of the differing word in the concept’s terms, are introduced to improve the likelihood of finding errors at the concept level. This strictness in the position of the differing word increases the lexical similarity between the concepts of a set thereby increasing the contrast between lexical similarities and modeling differences. This increase in contrast increases the likelihood of finding inconsistencies. The effectiveness of positional similarity sets in finding inconsistencies is further improved by using the same three structural indicators as discussed above in the generation of these sets. An analysis of 50 sample sets with differences in the number of relationships reveal 41.6% of the concepts to be inconsistent. Moreover, a study is performed to fully automate the process of suggesting attributes to enhance the modeling of SCT concepts using positional similarity sets. A technique is also used to automatically suggest the corresponding target values. An analysis of 50 sample concepts show that, of the 103 suggested attributes, 67 are manually confirmed to be correct. Finally, a study is conducted to examine the readiness of SCT problem list (PL) to support meaningful use of EHR. The results show that the concepts in PL suffer from the same issues as general SCT concepts, although to a slightly lesser extent, and do require further QA efforts. To support such efforts, structural indicators in the form of the number of parents and the number of words are shown to be effective in ferreting out potentially problematic concepts in which QA efforts should be focused. A structural indicator to find concepts with synonymy problems is also presented by finding pairs of SCT concepts that map to the same UMLS concept

Enrichment of ontologies using machine learning and summarization

Biomedical ontologies are structured knowledge systems in biomedicine. They play a major role in enabling precise communications in support of healthcare applications, e.g., Electronic Healthcare Records (EHR) systems. Biomedical ontologies are used in many different contexts to facilitate information and knowledge management. The most widely used clinical ontology is the SNOMED CT. Placing a new concept into its proper position in an ontology is a fundamental task in its lifecycle of curation and enrichment. A large biomedical ontology, which typically consists of many tens of thousands of concepts and relationships, can be viewed as a complex network with concepts as nodes and relationships as links. This large-size node-link diagram can easily become overwhelming for humans to understand or work with. Adding concepts is a challenging and time-consuming task that requires domain knowledge and ontology skills. IS-A links (aka subclass links) are the most important relationships of an ontology, enabling the inheritance of other relationships. The position of a concept, represented by its IS-A links to other concepts, determines how accurately it is modeled. Therefore, considering as many parent candidate concepts as possible leads to better modeling of this concept. Traditionally, curators rely on classifiers to place concepts into ontologies. However, this assumes the accurate relationship modeling of the new concept as well as the existing concepts. Since many concepts in existing ontologies, are underspecified in terms of their relationships, the placement by classifiers may be wrong. In cases where the curator does not manually check the automatic placement by classifier programs, concepts may end up in wrong positions in the IS-A hierarchy. A user searching for a concept, without knowing its precise name, would not find it in its expected location. Automated or semi-automated techniques that can place a concept or narrow down the places where to insert it, are highly desirable. Hence, this dissertation is addressing the problem of concept placement by automatically identifying IS-A links and potential parent concepts correctly and effectively for new concepts, with the assistance of two powerful techniques, Machine Learning (ML) and Abstraction Networks (AbNs). Modern neural networks have revolutionized Machine Learning in vision and Natural Language Processing (NLP). They also show great promise for ontology-related tasks, including ontology enrichment, i.e., insertion of new concepts. This dissertation presents research using ML and AbNs to achieve knowledge enrichment of ontologies. Abstraction networks (AbNs), are compact summary networks that preserve a significant amount of the semantics and structure of the underlying ontologies. An Abstraction Network is automatically derived from the ontology itself. It consists of nodes, where each node represents a set of concepts that are similar in their structure and semantics. Various kinds of AbNs have been previously developed by the Structural Analysis of Biomedical Ontologies Center (SABOC) to support the summarization, visualization, and quality assurance (QA) of biomedical ontologies. Two basic kinds of AbNs are the Area Taxonomy and the Partial-area Taxonomy, which have been developed for various biomedical ontologies (e.g., SNOMED CT of SNOMED International and NCIt of the National Cancer Institute). This dissertation presents four enrichment studies of SNOMED CT, utilizing both ML and AbN-based techniques

Scalable Approaches for Auditing the Completeness of Biomedical Ontologies

An ontology provides a formalized representation of knowledge within a domain. In biomedicine, ontologies have been widely used in modern biomedical applications to enable semantic interoperability and facilitate data exchange. Given the important roles that biomedical ontologies play, quality issues such as incompleteness, if not addressed, can affect the quality of downstream ontology-driven applications. However, biomedical ontologies often have large sizes and complex structures. Thus, it is infeasible to uncover potential quality issues through manual effort. In this dissertation, we introduce automated and scalable approaches for auditing the completeness of biomedical ontologies. We mainly focus on two incompleteness issues -- missing hierarchical relations and missing concepts. To identify missing hierarchical relations, we develop three approaches: a lexical-based approach, a hybrid approach utilizing both lexical features and logical definitions, and an approach based on concept name transformation. To identify missing concepts, a lexical-based Formal Concept Analysis (FCA) method is proposed for concept enrichment. We also predict proper concept names for the missing concepts using deep learning techniques. Manual review by domain experts is performed to evaluate these approaches. In addition, we leverage extrinsic knowledge (i.e., external ontologies) to help validate the detected incompleteness issues. The auditing approaches have been applied to a variety of biomedical ontologies, including the SNOMED CT, National Cancer Institute (NCI) Thesaurus and Gene Ontology. In the first lexical-based approach to identify missing hierarchical relations, each concept is modeled with an enriched set of lexical features, leveraging words and noun phrases in the name of the concept itself and the concept\u27s ancestors. Given a pair of concepts that are not linked by a hierarchical relation, if the enriched lexical attributes of one concept is a superset of the other\u27s, a potentially missing hierarchical relation will be suggested. Applying this approach to the September 2017 release of SNOMED CT (US edition) suggested 38,615 potentially missing hierarchical relations. A domain expert reviewed a random sample of 100 potentially missing ones, and confirmed 90 are valid (a precision of 90%). In the second work, a hybrid approach is proposed to detect missing hierarchical relations in non-lattice subgraphs. For each concept, its lexical features are harmonized with role definitions to provide a more comprehensive semantic model. Then a two-step subsumption testing is performed to automatically suggest potentially missing hierarchical relations. This approach identified 55 potentially missing hierarchical relations in the 19.08d version of the NCI Thesaurus. 29 out of 55 were confirmed as valid by the curators from the NCI Enterprise Vocabulary Service (EVS) and have been incorporated in the newer versions of the NCI Thesaurus. 7 out of 55 further revealed incorrect existing hierarchical relations in the NCI Thesaurus. In the third work, we introduce a transformation-based method that leverages the Unified Medical Language System (UMLS) knowledge to identify missing hierarchical relations in its source ontologies. Given a concept name, noun chunks within it are identified and replaced by their more general counterparts to generate new concept names that are supposed to be more general than the original one. Applying this method to the UMLS (2019AB release), a total of 39,359 potentially missing hierarchical relations were detected in 13 source ontologies. Domain experts evaluated a random sample of 200 potentially missing hierarchical relations identified in the SNOMED CT (US edition), and 100 in the Gene Ontology. 173 out of 200 and 63 out of 100 potentially missing hierarchical relations were confirmed by domain experts, indicating our method achieved a precision of 86.5% and 63% for the SNOMED CT and Gene Ontology, respectively. In the work of concept enrichment, we introduce a lexical method based on FCA to identify potentially missing concepts. Lexical features (i.e., words appearing in the concept names) are considered as FCA attributes while generating formal context. Applying multistage intersection on FCA attributes results in newly formalized concepts along with bags of words that can be utilized to name the concepts. This method was applied to the Disease or Disorder sub-hierarchy in the 19.08d version of the NCI Thesaurus and identified 8,983 potentially missing concepts. We performed a preliminary evaluation and validated that 592 out of 8,983 potentially missing concepts were included in external ontologies in the UMLS. After obtaining new concepts and their relevant bags of words, we further developed deep learning-based approaches to automatically predict concept names that comply with the naming convention of a specific ontology. We explored simple neural network, Long Short-Term Memory (LSTM), and Convolutional Neural Network (CNN) combined with LSTM. Our experiments showed that the LSTM-based approach achieved the best performance with an F1 score of 63.41% for predicting names for newly added concepts in the March 2018 release of SNOMED CT (US Edition) and an F1 score of 73.95% for naming missing concepts revealed by our previous work. In the last part of this dissertation, extrinsic knowledge is leveraged to collect supporting evidence for the detected incompleteness issues. We present a work in which cross-ontology evaluation based on extrinsic knowledge from the UMLS is utilized to help validate potentially missing hierarchical relations, aiming at relieving the heavy workload of manual review

Approximate string matching methods for duplicate detection and clustering tasks

Approximate string matching methods are utilized by a vast number of duplicate detection and clustering applications in various knowledge domains. The application area is expected to grow due to the recent significant increase in the amount of digital data and knowledge sources. Despite the large number of existing string similarity metrics, there is a need for more precise approximate string matching methods to improve the efficiency of computer-driven data processing, thus decreasing labor-intensive human involvement. This work introduces a family of novel string similarity methods, which outperform a number of effective well-known and widely used string similarity functions. The new algorithms are designed to overcome the most common problem of the existing methods which is the lack of context sensitivity. In this evaluation, the Longest Approximately Common Prefix (LACP) method achieved the highest values of average precision and maximum F1 on three out of four medical informatics datasets used. The LACP demonstrated the lowest execution time ensured by the linear computational complexity within the set of evaluated algorithms. An online interactive spell checker of biomedical terms was developed based on the LACP method. The main goal of the spell checker was to evaluate the LACP method’s ability to make it possible to estimate the similarity of resulting sets at a glance. The Shortest Path Edit Distance (SPED) outperformed all evaluated similarity functions and gained the highest possible values of the average precision and maximum F1 measures on the bioinformatics datasets. The SPED design was inspired by the preceding work on the Markov Random Field Edit Distance (MRFED). The SPED eradicates two shortcomings of the MRFED, which are prolonged execution time and moderate performance. Four modifications of the Histogram Difference (HD) method demonstrated the best performance on the majority of the life and social sciences data sources used in the experiments. The modifications of the HD algorithm were achieved using several re- scorers: HD with Normalized Smith-Waterman Re-scorer, HD with TFIDF and Jaccard re-scorers, HD with the Longest Common Prefix and TFIDF re-scorers, and HD with the Unweighted Longest Common Prefix Re-scorer. Another contribution of this dissertation includes the extensive analysis of the string similarity methods evaluation for duplicate detection and clustering tasks on the life and social sciences, bioinformatics, and medical informatics domains. The experimental results are illustrated with precision-recall charts and a number of tables presenting the average precision, maximum F1, and execution time

Semantic reclassification of the UMLS concepts

Summary: Accurate semantic classification is valuable for text mining and knowledge-based tasks that perform inference based on semantic classes. To benefit applications using the semantic classification of the Unified Medical Language System (UMLS) concepts, we automatically reclassified the concepts based on their lexical and contextual features. The new classification is useful for auditing the original UMLS semantic classification and for building biomedical text mining applications

Using contextual and lexical features to restructure and validate the classification of biomedical concepts

Background: Biomedical ontologies are critical for integration of data from diverse sources and for use by knowledge-based biomedical applications, especially natural language processing as well as associated mining and reasoning systems. The effectiveness of these systems is heavily dependent on the quality of the ontological terms and their classifications. To assist in developing and maintaining the ontologies objectively, we propose automatic approaches to classify and/or validate their semantic categories. In previous work, we developed an approach using contextual syntactic features obtained from a large domain corpus to reclassify and validate concepts of the Unified Medical Language System (UMLS), a comprehensive resource of biomedical terminology. In this paper, we introduce another classification approach based on words of the concept strings and compare it to the contextual syntactic approach. Results: The string-based approach achieved an error rate of 0.143, with a mean reciprocal rank of 0.907. The context-based and string-based approaches were found to be complementary, and the error rate was reduced further by applying a linear combination of the two classifiers. The advantage of combining the two approaches was especially manifested on test data with sufficient contextual features, achieving the lowest error rate of 0.055 and a mean reciprocal rank of 0.969. Conclusion: The lexical features provide another semantic dimension in addition to syntactic contextual features that support the classification of ontological concepts. The classification errors of each dimension can be further reduced through appropriate combination of the complementary classifiers

Ontology-based data integration between clinical and research systems

Data from the electronic medical record comprise numerous structured but uncoded elements, which are not linked to standard terminologies. Reuse of such data for secondary research purposes has gained in importance recently. However, the identification of relevant data elements and the creation of database jobs for extraction, transformation and loading (ETL) are challenging: With current methods such as data warehousing, it is not feasible to efficiently maintain and reuse semantically complex data extraction and trans-formation routines. We present an ontology-supported approach to overcome this challenge by making use of abstraction: Instead of defining ETL procedures at the database level, we use ontologies to organize and describe the medical concepts of both the source system and the target system. Instead of using unique, specifically developed SQL statements or ETL jobs, we define declarative transformation rules within ontologies and illustrate how these constructs can then be used to automatically generate SQL code to perform the desired ETL procedures. This demonstrates how a suitable level of abstraction may not only aid the interpretation of clinical data, but can also foster the reutilization of methods for un-locking it

Automatic medical term generation for a low-resource language: translation of SNOMED CT into Basque

211 p. (eusk.) 148 p. (eng.)Tesi-lan honetan, terminoak automatikoki euskaratzeko sistemak garatu eta ebaluatu ditugu. Horretarako,SNOMED CT, terminologia kliniko zabala barnebiltzen duen ontologia hartu dugu abiapuntutzat, etaEuSnomed deritzon sistema garatu dugu horren euskaratzea kudeatzeko. EuSnomedek lau urratsekoalgoritmoa inplementatzen du terminoen euskarazko ordainak lortzeko: Lehenengo urratsak baliabidelexikalak erabiltzen ditu SNOMED CTren terminoei euskarazko ordainak zuzenean esleitzeko. Besteakbeste, Euskalterm banku terminologikoa, Zientzia eta Teknologiaren Hiztegi Entziklopedikoa, eta GizaAnatomiako Atlasa erabili ditugu. Bigarren urratserako, ingelesezko termino neoklasikoak euskaratzekoNeoTerm sistema garatu dugu. Sistema horrek, afixu neoklasikoen baliokidetzak eta transliterazio erregelakerabiltzen ditu euskarazko ordainak sortzeko. Hirugarrenerako, ingelesezko termino konplexuak euskaratzendituen KabiTerm sistema garatu dugu. KabiTermek termino konplexuetan agertzen diren habiaratutakoterminoen egiturak erabiltzen ditu euskarazko egiturak sortzeko, eta horrela termino konplexuakosatzeko. Azken urratsean, erregeletan oinarritzen den Matxin itzultzaile automatikoa osasun-zientziendomeinura egokitu dugu, MatxinMed sortuz. Horretarako Matxin domeinura egokitzeko prestatu dugu,eta besteak beste, hiztegia zabaldu diogu osasun-zientzietako testuak itzuli ahal izateko. Garatutako lauurratsak ebaluatuak izan dira metodo ezberdinak erabiliz. Alde batetik, aditu talde txiki batekin egin dugulehenengo bi urratsen ebaluazioa, eta bestetik, osasun-zientzietako euskal komunitateari esker egin dugunMedbaluatoia kanpainaren baitan azkeneko bi urratsetako sistemen ebaluazioa egin da

A Deep Learning-Based Privacy-Preserving Model for Smart Healthcare in Internet of Medical Things Using Fog Computing

With the emergence of COVID-19, smart healthcare, the Internet of Medical Things, and big data-driven medical applications have become even more important. The biomedical data produced is highly confidential and private. Unfortunately, conventional health systems cannot support such a colossal amount of biomedical data. Hence, data is typically stored and shared through the cloud. The shared data is then used for different purposes, such as research and discovery of unprecedented facts. Typically, biomedical data appear in textual form (e.g., test reports, prescriptions, and diagnosis). Unfortunately, such data is prone to several security threats and attacks, for example, privacy and confidentiality breach. Although significant progress has been made on securing biomedical data, most existing approaches yield long delays and cannot accommodate real-time responses. This paper proposes a novel fog-enabled privacy-preserving model called [Formula: see text] sanitizer, which uses deep learning to improve the healthcare system. The proposed model is based on a Convolutional Neural Network with Bidirectional-LSTM and effectively performs Medical Entity Recognition. The experimental results show that [Formula: see text] sanitizer outperforms the state-of-the-art models with 91.14% recall, 92.63% in precision, and 92% F1-score. The sanitization model shows 28.77% improved utility preservation as compared to the state-of-the-art