Evidence map›Paper›PMID 37161566›Full record

ArticleBMC medical informatics and decision making2023

Logical definition-based identification of potential missing concepts in SNOMED CT.

Xubing Hao, Rashmie Abeysinghe, Kirk Roberts, Licong Cui

Abstract read
In one paragraph

Article in BMC medical informatics and decision making, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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0cells of the map it votes in
2citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Xubing HaoSchool of Biomedical Informatics, University of Texas Health Science Center at Houston, Houston, TX, USA.
Rashmie AbeysingheDepartment of Neurology, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA.
Kirk RobertsSchool of Biomedical Informatics, University of Texas Health Science Center at Houston, Houston, TX, USA.
Licong CuiSchool of Biomedical Informatics, University of Texas Health Science Center at Houston, Houston, TX, USA. licong.cui@uth.tmc.edu.ORCID http://orcid.org/0000-0001-5549-8780

Funding

An informatics framework for SUDEP Risk Marker Identification and Risk AssessmentR01NS116287 · NINDS · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI CUI, LICONG · 2020 to 2024
$1.7M
Biomedical Terminology Quality Assurance for Enhancing Clinical Queries over Electronic Health RecordsR01LM013335 · NLM · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI CUI, LICONG · 2020 to 2021
$663k
An Interface Ontology for Alzheimer's Disease ResearchR21AG068994 · NIA · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI CUI, LICONG · 2020 to 2021
$429k
NIA NIH HHS R21 AG068994NIH HHS R01LM013335NIH HHS R01NS116287NIH HHS R21AG068994NINDS NIH HHS R01 NS116287NLM NIH HHS R01 LM013335
6 · The paper itself

Abstract

backgroundBiomedical ontologies are representations of biomedical knowledge that provide terms with precisely defined meanings. They play a vital role in facilitating biomedical research in a cross-disciplinary manner. Quality issues of biomedical ontologies will hinder their effective usage. One such quality issue is missing concepts. In this study, we introduce a logical definition-based approach to identify potential missing concepts in SNOMED CT. A unique contribution of our approach is that it is capable of obtaining both logical definitions and fully specified names for potential missing concepts.

methodThe logical definitions of unrelated pairs of fully defined concepts in non-lattice subgraphs that indicate quality issues are intersected to generate the logical definitions of potential missing concepts. A text summarization model (called PEGASUS) is fine-tuned to predict the fully specified names of the potential missing concepts from their generated logical definitions. Furthermore, the identified potential missing concepts are validated using external resources including the Unified Medical Language System (UMLS), biomedical literature in PubMed, and a newer version of SNOMED CT.

resultsFrom the March 2021 US Edition of SNOMED CT, we obtained a total of 30,313 unique logical definitions for potential missing concepts through the intersecting process. We fine-tuned a PEGASUS summarization model with 289,169 training instances and tested it on 36,146 instances. The model achieved 72.83 of ROUGE-1, 51.06 of ROUGE-2, and 71.76 of ROUGE-L on the test dataset. The model correctly predicted 11,549 out of 36,146 fully specified names in the test dataset. Applying the fine-tuned model on the 30,313 unique logical definitions, 23,031 total potential missing concepts were identified. Out of these, a total of 2,312 (10.04%) were automatically validated by either of the three resources.

conclusionsThe results showed that our logical definition-based approach for identification of potential missing concepts in SNOMED CT is encouraging. Nevertheless, there is still room for improving the performance of naming concepts based on logical definitions.

Indexed as

Biological OntologiesBiomedical ResearchHumansKnowledgeLanguageSystematized Nomenclature of MedicineConcept mappingLogical definitionOntology and terminologyOntology enrichmentSummarization model

Identifiers

PMID37161566
PMCPMC10169302

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LicenceCC BY
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.