Development of the Gender, Sex, and Sexual Orientation ontology: Evaluation and workflow

Clair A Kronk; Judith W Dexheimer

doi:10.1093/jamia/ocaa061

Development of the Gender, Sex, and Sexual Orientation ontology: Evaluation and workflow

J Am Med Inform Assoc. 2020 Jul 1;27(7):1110-1115. doi: 10.1093/jamia/ocaa061.

Authors

Clair A Kronk¹, Judith W Dexheimer^{1

2

3}

Affiliations

¹ Department of Biomedical Informatics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
² Division of Emergency Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
³ Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.

Abstract

Objective: The study sought to create an integrated vocabulary system that addresses the lack of standardized health terminology in gender and sexual orientation.

Materials and methods: We evaluated computational efficiency, coverage, query-based term tagging, randomly selected term tagging, and mappings to existing terminology systems (including ICD (International Classification of Diseases), DSM (Diagnostic and Statistical Manual of Mental Disorders ), SNOMED (Systematized Nomenclature of Medicine), MeSH (Medical Subject Headings), and National Cancer Institute Thesaurus).

Results: We published version 2 of the Gender, Sex, and Sexual Orientation (GSSO) ontology with over 10 000 entries with definitions, a readable hierarchy system, and over 14 000 database mappings. Over 70% of terms had no mapping in any other available ontology.

Discussion: We created the GSSO and made it publicly available on the National Center for Biomedical Ontology BioPortal and on GitHub. It includes clarifications on over 200 slang terms, 190 pronouns with linked example usages, and over 200 nonbinary and culturally specific gender identities.

Conclusions: Gender and sexual orientation continue to represent crucial areas of medical practice and research with evolving terminology. The GSSO helps address this gap by providing a centralized data resource.

Keywords: biological ontologies; gender and sexual minorities; gender identity; sex; sexual behavior.

MeSH terms

Biological Ontologies*
Female
Gender Identity*
Humans
Male
Medical Subject Headings
Sex
Sexual Behavior / classification*
Sexual and Gender Minorities / classification