Mining non-lattice subgraphs for detecting missing hierarchical relations and concepts in SNOMED CT.
Ontology highlight
ABSTRACT:
SUBMITTER: Cui L
PROVIDER: S-EPMC6080685 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
Publications
Mining non-lattice subgraphs for detecting missing hierarchical relations and concepts in SNOMED CT.
Cui Licong L Zhu Wei W Tao Shiqiang S Case James T JT Bodenreider Olivier O Zhang Guo-Qiang GQ
Journal of the American Medical Informatics Association : JAMIA 20170701 4
<h4>Objective</h4>Quality assurance of large ontological systems such as SNOMED CT is an indispensable part of the terminology management lifecycle. We introduce a hybrid structural-lexical method for scalable and systematic discovery of missing hierarchical relations and concepts in SNOMED CT.<h4>Material and methods</h4>All non-lattice subgraphs (the structural part) in SNOMED CT are exhaustively extracted using a scalable MapReduce algorithm. Four lexical patterns (the lexical part) are ident ...[more]
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Project description:ObjectiveSNOMED CT is the largest clinical terminology worldwide. Quality assurance of SNOMED CT is of utmost importance to ensure that it provides accurate domain knowledge to various SNOMED CT-based applications. In this work, we introduce a deep learning-based approach to uncover missing is-a relations in SNOMED CT.Materials and methodsOur focus is to identify missing is-a relations between concept-pairs exhibiting a containment pattern (ie, the set of words of one concept being a proper subset of that of the other concept). We use hierarchically related containment concept-pairs as positive instances and hierarchically unrelated containment concept-pairs as negative instances to train a model predicting whether an is-a relation exists between 2 concepts with containment pattern. The model is a binary classifier leveraging concept name features, hierarchical features, enriched lexical attribute features, and logical definition features. We introduce a cross-validation inspired approach to identify missing is-a relations among all hierarchically unrelated containment concept-pairs.ResultsWe trained and applied our model on the Clinical finding subhierarchy of SNOMED CT (September 2019 US edition). Our model (based on the validation sets) achieved a precision of 0.8164, recall of 0.8397, and F1 score of 0.8279. Applying the model to predict actual missing is-a relations, we obtained a total of 1661 potential candidates. Domain experts performed evaluation on randomly selected 230 samples and verified that 192 (83.48%) are valid.ConclusionsThe results showed that our deep learning approach is effective in uncovering missing is-a relations between containment concept-pairs in SNOMED CT.
| S-EPMC9933066 | biostudies-literature
Project description:BackgroundThe National Cancer Institute (NCI) Thesaurus provides reference terminology for NCI and other systems. Previously, we proposed a hybrid prototype utilizing lexical features and role definitions of concepts in non-lattice subgraphs to identify missing IS-A relations in the NCI Thesaurus. However, no domain expert evaluation was provided in our previous work. In this paper, we further enhance the hybrid approach by leveraging a novel lexical feature-roots of noun chunks within concept names. Formal evaluation of our enhanced approach is also performed.MethodWe first compute all the non-lattice subgraphs in the NCI Thesaurus. We model each concept using its role definitions, words and roots of noun chunks within its concept name and its ancestor's names. Then we perform subsumption testing for candidate concept pairs in the non-lattice subgraphs to automatically detect potentially missing IS-A relations. Domain experts evaluated the validity of these relations.ResultsWe applied our approach to 19.08d version of the NCI Thesaurus. A total of 55 potentially missing IS-A relations were identified by our approach and reviewed by domain experts. 29 out of 55 were confirmed as valid by domain experts and have been incorporated in the newer versions of the NCI Thesaurus. 7 out of 55 further revealed incorrect existing IS-A relations in the NCI Thesaurus.ConclusionsThe results showed that our hybrid approach by leveraging lexical features and role definitions is effective in identifying potentially missing IS-A relations in the NCI Thesaurus.
| S-EPMC7737275 | biostudies-literature
Project description:BackgroundData harmonisation is essential in real-world data (RWD) research projects based on hospital information systems databases, as coding systems differ between countries. The Hungarian hospital information systems and the national claims database use internationally known diagnosis codes, but data on medical procedures are recorded using national codes. There is no simple or standard solution for mapping the national codes to a standard coding system. Our aim was to map the Hungarian procedure codes (OENO) to SNOMED CT as part of the European Health Data Evidence Network (EHDEN) project.MethodsWe recruited 25 professionals from different specialties to manually map the procedure codes used between 2011 and 2021. A mapping protocol and training material were developed, results were regularly revised, and the challenges of mapping were recorded. Approximately 7% of the codes were mapped by more people in different specialties for validation purposes.ResultsWe mapped 4661 OENO codes to standard vocabularies, mostly SNOMED CT. We categorized the challenges into three main areas: semantic, matching, and methodological. Semantic refers to the occasionally unclear meaning of the OENO codes, matching to the different granularity and purpose of the OENO and SNOMED CT vocabularies. Lastly, methodological challenges were used to describe issues related to the design of the above-mentioned two vocabularies.ConclusionsThe challenges and solutions presented here may help other researchers to design their process to map their national codes to standard vocabularies in order to achieve greater consistency in mapping results. Moreover, we believe that our work will allow for better use of RWD collected in Hungary in international research collaborations.
| S-EPMC10585817 | biostudies-literature
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| S-EPMC3637289 | biostudies-literature
Project description:Protein-protein interaction (PPI) networks carry vital information about proteins' functions. Analysis of PPI networks associated with specific disease systems including cancer helps us in the understanding of the complex biology of diseases. Specifically, identification of similar and frequently occurring patterns (network motifs) across PPI networks will provide useful clues to better understand the biology of the diseases.In this study, we developed a novel pattern-mining algorithm that detects cancer associated functional subgraphs occurring in multiple cancer PPI networks. We constructed nine cancer PPI networks using differentially expressed genes from the Oncomine dataset. From these networks we discovered frequent patterns that occur in all networks and at different size levels. Patterns are abstracted subgraphs with their nodes replaced by node cluster IDs. By using effective canonical labeling and adopting weighted adjacency matrices, we are able to perform graph isomorphism test in polynomial running time. We use a bottom-up pattern growth approach to search for patterns, which allows us to effectively reduce the search space as pattern sizes grow. Validation of the frequent common patterns using GO semantic similarity showed that the discovered subgraphs scored consistently higher than the randomly generated subgraphs at each size level. We further investigated the cancer relevance of a select set of subgraphs using literature-based evidences.Frequent common patterns exist in cancer PPI networks, which can be found through effective pattern mining algorithms. We believe that this work would allow us to identify functionally relevant and coherent subgraphs in cancer networks, which can be advanced to experimental validation to further our understanding of the complex biology of cancer.
| S-EPMC3524085 | biostudies-other
Project description:OBJECTIVE: The aim of this paper is to report on the use of the systematised nomenclature of medicine clinical terms (SNOMED CT) by providing an overview of published papers. METHODS: Published papers on SNOMED CT between 2001 and 2012 were identified using PubMed and Embase databases using the keywords 'systematised nomenclature of medicine' and 'SNOMED CT'. For each paper the following characteristics were retrieved: SNOMED CT focus category (ie, indeterminate, theoretical, pre-development/design, implementation and evaluation/commodity), usage category (eg, prospective content coverage, used to classify or code in a study), medical domain and country. RESULTS: Our search strategy identified 488 papers. A comparison between the papers published between 2001-6 and 2007-12 showed an increase in every SNOMED CT focus category. The number of papers classified as 'theoretical' increased from 46 to 78, 'pre-development/design' increased from 61 to 173 and 'implementation' increased from 10 to 34. Papers classified as 'evaluation/commodity' only started to appear from 2010. CONCLUSIONS: The majority of studies focused on 'theoretical' and 'pre-development/design'. This is still encouraging as SNOMED CT is being harmonized with other standardized terminologies and is being evaluated to determine the content coverage of local terms, which is usually one of the first steps towards adoption. Most implementations are not published in the scientific literature, requiring a look beyond the scientific literature to gain insights into SNOMED CT implementations.
| S-EPMC3957381 | biostudies-other
Project description:BackgroundThe Systematic Nomenclature of Medicine Clinical Terms (SNOMED CT) is being advocated as the foundation for encoding clinical documentation. While the electronic medical record is likely to play a critical role in pharmacovigilance - the detection of adverse events due to medications - classification and reporting of Adverse Events is currently based on the Medical Dictionary of Regulatory Activities (MedDRA). Complete and high-quality MedDRA-to-SNOMED CT mappings can therefore facilitate pharmacovigilance. The existing mappings, as determined through the Unified Medical Language System (UMLS), are partial, and record only one-to-one correspondences even though SNOMED CT can be used compositionally. Efforts to map previously unmapped MedDRA concepts would be most productive if focused on concepts that occur frequently in actual adverse event data. We aimed to identify aspects of MedDRA that complicate mapping to SNOMED CT, determine pattern in unmapped high-frequency MedDRA concepts, and to identify types of integration errors in the mapping of MedDRA to UMLS.MethodsUsing one years' data from the US Federal Drug Administrations Adverse Event Reporting System, we identified MedDRA preferred terms that collectively accounted for 95% of both Adverse Events and Therapeutic Indications records. After eliminating those already mapping to SNOMED CT, we attempted to map the remaining 645 Adverse-Event and 141 Therapeutic-Indications preferred terms with software assistance.ResultsAll but 46 Adverse-Event and 7 Therapeutic-Indications preferred terms could be composed using SNOMED CT concepts: none of these required more than 3 SNOMED CT concepts to compose. We describe the common composition patterns in the paper. About 30% of both Adverse-Event and Therapeutic-Indications Preferred Terms corresponded to single SNOMED CT concepts: the correspondence was detectable by human inspection but had been missed during the integration process, which had created duplicated concepts in UMLS.ConclusionsIdentification of composite mapping patterns, and the types of errors that occur in the MedDRA content within UMLS, can focus larger-scale efforts on improving the quality of such mappings, which may assist in the creation of an adverse-events ontology.
| S-EPMC2988705 | biostudies-literature
Project description:ObjectivePatient phenotype definitions based on terminologies are required for the computational use of electronic health records. Within UK primary care research databases, such definitions have typically been represented as flat lists of Read terms, but Systematized Nomenclature of Medicine-Clinical Terms (SNOMED CT) (a widely employed international reference terminology) enables the use of relationships between concepts, which could facilitate the phenotyping process. We implemented SNOMED CT-based phenotyping approaches and investigated their performance in the CPRD Aurum primary care database.Materials and methodsWe developed SNOMED CT phenotype definitions for 3 exemplar diseases: diabetes mellitus, asthma, and heart failure, using 3 methods: "primary" (primary concept and its descendants), "extended" (primary concept, descendants, and additional relations), and "value set" (based on text searches of term descriptions). We also derived SNOMED CT codelists in a semiautomated manner for 276 disease phenotypes used in a study of health across the lifecourse. Cohorts selected using each codelist were compared to "gold standard" manually curated Read codelists in a sample of 500 000 patients from CPRD Aurum.ResultsSNOMED CT codelists selected a similar set of patients to Read, with F1 scores exceeding 0.93, and age and sex distributions were similar. The "value set" and "extended" codelists had slightly greater recall but lower precision than "primary" codelists. We were able to represent 257 of the 276 phenotypes by a single concept hierarchy, and for 135 phenotypes, the F1 score was greater than 0.9.ConclusionsSNOMED CT provides an efficient way to define disease phenotypes, resulting in similar patient populations to manually curated codelists.
| S-EPMC9846670 | biostudies-literature
Project description:Gene Ontology is used extensively in scientific knowledgebases and repositories to organize a wealth of biological information. However, interpreting annotations derived from differential gene lists is often difficult without manually sorting into higher-order categories. To address these issues, we present GOcats, a novel tool that organizes the Gene Ontology (GO) into subgraphs representing user-defined concepts, while ensuring that all appropriate relations are congruent with respect to scoping semantics. We tested GOcats performance using subcellular location categories to mine annotations from GO-utilizing knowledgebases and evaluated their accuracy against immunohistochemistry datasets in the Human Protein Atlas (HPA). In comparison to term categorizations generated from UniProt's controlled vocabulary and from GO slims via OWLTools' Map2Slim, GOcats outperformed these methods in its ability to mimic human-categorized GO term sets. Unlike the other methods, GOcats relies only on an input of basic keywords from the user (e.g. biologist), not a manually compiled or static set of top-level GO terms. Additionally, by identifying and properly defining relations with respect to semantic scope, GOcats can utilize the traditionally problematic relation, has_part, without encountering erroneous term mapping. We applied GOcats in the comparison of HPA-sourced knowledgebase annotations to experimentally-derived annotations provided by HPA directly. During the comparison, GOcats improved correspondence between the annotation sources by adjusting semantic granularity. GOcats enables the creation of custom, GO slim-like filters to map fine-grained gene annotations from gene annotation files to general subcellular compartments without needing to hand-select a set of GO terms for categorization. Moreover, GOcats can customize the level of semantic specificity for annotation categories. Furthermore, GOcats enables a safe and more comprehensive semantic scoping utilization of go-core, allowing for a more complete utilization of information available in GO. Together, these improvements can impact a variety of GO knowledgebase data mining use-cases as well as knowledgebase curation and quality control.
| S-EPMC7289357 | biostudies-literature
Project description:ObjectiveThis article reviews recent literature on the use of SNOMED CT as an extension of Lee et al's 2014 review on the same topic. The Lee et al's article covered literature published from 2001-2012, and the scope of this review was 2013-2020.Materials and methodsIn line with Lee et al's methods, we searched the PubMed and Embase databases and identified 1002 articles for review, including studies from January 2013 to September 2020. The retrieved articles were categorized and analyzed according to SNOMED CT focus categories (ie, indeterminate, theoretical, pre-development, implementation, and evaluation/commodity), usage categories (eg, illustrate terminology systems theory, prospective content coverage, used to classify or code in a study, retrieve or analyze patient data, etc.), medical domains, and countries.ResultsAfter applying inclusion and exclusion criteria, 622 articles were selected for final review. Compared to the papers published between 2001 and 2012, papers published between 2013 and 2020 revealed an increase in more mature usage of SNOMED CT, and the number of papers classified in the "implementation" and "evaluation/commodity" focus categories expanded. When analyzed by decade, papers in the "pre-development," "implementation," and "evaluation/commodity" categories were much more numerous in 2011-2020 than in 2001-2010, increasing from 169 to 293, 30 to 138, and 3 to 65, respectively.ConclusionPublished papers in more mature usage categories have substantially increased since 2012. From 2013 to present, SNOMED CT has been increasingly implemented in more practical settings. Future research should concentrate on addressing whether SNOMED CT influences improvement in patient care.
| S-EPMC8363812 | biostudies-literature