=Paper= {{Paper |id=Vol-3805/ICBO-2022_paper_9978 |storemode=property |title=Translating Medical Vocabularies via the Unified Medical Language Systems |pdfUrl=https://ceur-ws.org/Vol-3805/ICBO-2022_paper_9978.pdf |volume=Vol-3805 |authors=William T. Roddy,Daniel Olson,Diane Corey,Ian Braun,Terrence R. McHugh,Emily Hartley,Smith Heavner,Ramona L. Walls |dblpUrl=https://dblp.org/rec/conf/icbo/RoddyOCBMHHW22 }} ==Translating Medical Vocabularies via the Unified Medical Language Systems== https://ceur-ws.org/Vol-3805/ICBO-2022_paper_9978.pdf
                         Translating medical vocabularies via
                         the Unified Medical Language System

                         William T. Roddy1, Daniel Olson,1, Diane Corey1, Ian Braun1, Terrence R. McHugh1, Emily Hartley1,
                         Smith Heavner1, Ramona L. Walls1
                         1
                                Critical Path Institute, Tucson, AZ


                                              Keywords 1
                                              data management, OMOP, SDTM, CDISC, UMLS, terminology, vocabulary


                         1. Background                                                                                    Outcomes Partnership (OMOP) model prior to
                                                                                                                          data integration. The relevant concepts within the
                                                                                                                          integrated data will be further mapped to OBO
                            The Rare Disease Cures Accelerator – Data
                                                                                                                          ontologies (https://obofoundry.org/) prior to
                         and Analytics Platform (RDCA-DAP) of the
                                                                                                                          knowledge graph ingestion (which is outside the
                         Critical Path Institute (C-Path) is an FDA-funded
                                                                                                                          scope of this submission). The OMOP
                         effort to facilitate drug development for rare
                                                                                                                          standardized      vocabulary    includes    many
                         diseases (https://portal.rdca.c-path.org/). RDCA-
                                                                                                                          biomedical       terminologies     that    enable
                         DAP        helps researchers       leverage existing
                                                                                                                          standardization of source data; however, these
                         knowledge and analyze data to inform and
                                                                                                                          terminologies do not currently include the Study
                         optimize clinical trial design with new sources of
                                                                                                                          Data Tabulation Model (SDTM) controlled
                         evidence. The platform supports the use of data to
                                                                                                                          terminology which is frequently used for
                         improve the quantitative characterization of rare
                                                                                                                          submissions to regulatory authorities. Generating
                         disease progression, define novel biomarkers and
                                                                                                                          mappings between the SDTM terminology and
                         endpoints, and provides analytical tools to inform
                                                                                                                          the OMOP standardized vocabulary will further
                         the design of innovative trial protocols.
                                                                                                                          expand the capabilities of data sharing and reuse
                            One of the key deliverables is the creation of a
                                                                                                                          between real-world data sources and clinical trial
                         knowledge graph from the natural history, registry
                                                                                                                          data sources. We demonstrate an implementation
                         and clinical trial data received. The data, however,
                                                                                                                          of translating the terminology used in these two
                         must be cleaned and standardized prior to
                                                                                                                          Common Data Models.
                         knowledge graph ingestion which has presented
                         us with opportunities to implement novel (to our
                         organization) automation procedures of certain
                         data management activities (e.g. vocabulary                                                      1.1.    Methods
                         mappings).
                             Recent advances in clinical research data                                                             We have developed mappings between
                         standards have resulted in the development of                                                    SDTM terminology and the OMOP standardized
                         several Common Data Models (CDMs) which are                                                      vocabulary by using the Unified Medical
                         leveraged to support the sharing and reuse of                                                    Language System (UMLS). The SDTM
                         data1. Critical Path Institute has chosen to map                                                 terminology is published by the National Cancer
                         legacy data to the Observational Medical                                                         Institute Enterprise Vocabulary Services (NCI

                         ICBO 2022, September 25-28, 2022, Ann Arbor, MI, USA
                         EMAIL: wroddy@c-path.org (A. 1); dolson@c-path.org (A. 2);
                         dcorey@c-path.org (A. 3) ibraun@c-path.org (A. 4)
                         terrence.r.mchugh@gmail.com (A.5) ehartley@c-path.org (A.6)
                         sheavner@c-path.org (A. 7) rwalls@c-path.org (A. 8)

                         ORCID: 0000-0002-8453-520X (A. 1); 0000-0002-8134-1207 (A.
                         2); 0000-0003-3840-2315 (A. 3) 0000-0002-2389-9288 (A. 4)
                         0000-0002-3805-0359 (A.5) X (A.6) 0000-0003-0912-0407 (A. 7)
                         0000-0001-8815-0078 (A. 8)
                                          ©️ 2022 Copyright for this paper by its authors. Use permitted under Creative
                                          Commons License Attribution 4.0 International (CC BY 4.0).

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EVS), where concepts are identified by concept      mappings require further refinement based on
codes (C-Codes) which are included within the       subject-matter expert review and additional
UMLS. We identified all UMLS Concept Unique         transformation logic, to ensure that context
Identifiers (CUIs) by searching for atoms (the      appropriateness of mappings. For example, we
smallest unit of naming in a source) with a         are exploring further refinement by including the
source abbreviation of NCI and a source code        source SDTM domain in the mapping logic.
containing the C-Code in the SDTM                   Additionally, it may be possible to bolster the
terminology. The UMLS CUIs associated with          mappings with additional resources such as
the SDTM terminology were used to retrieve          CDISC’s LOINC to LB Mapping Files.
source codes originating from terminologies that
are included within the OMOP vocabulary. We
primarily focused on the SNOMED-CT, LOINC,
RxNorm, and UCUM vocabularies because they
are standard within the OMOP vocabulary, but
we also expanded the search to MedDRA and
MeSH due to their appreciable representation in
SDTM and OMOP. The source codes from these
vocabularies were used to identify the equivalent
OMOP vocabulary standard concept.


                                                    Figure 1: data flow with the number of unique C-
1.1.1. Status of Mapping Results                    Codes present in each

         The 2021-12-17 release of the SDTM
terminology included 22,132 unique C-Codes.         2. Conclusion
Of these, 84.2% were available within the UMLS
2021AB release and 57.4% were only indexed in            We show that it is feasible to aid the
an NCI EVS terminology or the Metathesaurus         transformation process between CDMs by
vocabulary. Within the UMLS searched                utilizing the UMLS to generate mappings
vocabularies 25.5% of the C-Codes were present      between the SDTM terminology and the OMOP
and 1.3% were present in other vocabularies. We     vocabularies. Future work will expand and
used all possible vocabulary codes to query the     ensure accuracy of the mappings, outline
OMOP vocabularies (release v5.0 28-JAN-22)          improvements of data standards for
and found that 19.2% of the C-Codes mapped to       interoperability, and publish source code.
a standard OMOP concept. There were no
corresponding OMOP concepts for 4.6% of C-          3. References
Codes; however, nearly 90% of these are UCUM
concepts and this is expected based on the
OMOP documentation2.                                [1] Garza M, Del Fiol G, Tenenbaum J, Walden
         To evaluate the applicability of this          A, Zozus MN. Evaluating common data
approach, we used SDTM data from the C-Path             models for use with a longitudinal
Online Data Repository3 to identify submission          community registry. J Biomed Inform. 2016
values from controlled terminology codelists. We        Dec;64:333-341.
found that a majority of observations mapped to     [2] Available                           from:
at least one standard concept. The                      https://www.ohdsi.org/web/wiki/doku.php?i
appropriateness of initial mappings was assessed        d=documentation%3Avocabulary%3Aucum
by comparing the SDTM codelist domain to the        [3] Critical Path Institute Online Data
target concept domain. In many cases the source-        Repository (CODR). Available from:
to-target domain were appropriate; for example,         https://codr.c-path.org/
codes in the laboratory data (LB) domain had
target concepts in the Measurement domain.
This preliminary mapping shows potential in the
ability to extract translations between SDTM and
OMOP vocabularies through the UMLS. These