Dermoscopy Differential Diagnosis Explorer (D3X) Ontology to Aggregate and Link Dermoscopic Patterns to Differential Diagnoses: Development and Usability Study

• Published in: JMIR medical informatics Vol. 12; p. e49613
• Main Authors: Lin, Rebecca Z, Amith, Muhammad Tuan, Wang, Cynthia X, Strickley, John, Tao, Cui
• Format: Journal Article
• Language: English
• Published: Canada JMIR Publications 21.06.2024
• Subjects: Accuracy; Clinical medicine; Dermatology; Licensing; Ontology; Original Paper; Primary care; Semantics; Semiotics; Subject specialists; Taxonomy; Web Ontology Language-OWL; web app; web ontology language; visualization; web application; skin; medical informatics; vocabulary; semiotic; visual; diagnostic; ontologies; ontology; skin diseases; dermoscopic; differential diagnosis; OWL; information retrieval; skin lesion; diagnosis; information storage and retrieval; diagnoses; information storage; dermatology; biomedical ontology; dermoscopy differential diagnosis explorer; dermoscopy
• ISSN: 2291-9694; 2291-9694
• DOI: 10.2196/49613

Dermoscopy is a growing field that uses microscopy to allow dermatologists and primary care physicians to identify skin lesions. For a given skin lesion, a wide variety of differential diagnoses exist, which may be challenging for inexperienced users to name and understand. In this study, we describe the creation of the dermoscopy differential diagnosis explorer (D3X), an ontology linking dermoscopic patterns to differential diagnoses. Existing ontologies that were incorporated into D3X include the elements of visuals ontology and dermoscopy elements of visuals ontology, which connect visual features to dermoscopic patterns. A list of differential diagnoses for each pattern was generated from the literature and in consultation with domain experts. Open-source images were incorporated from DermNet, Dermoscopedia, and open-access research papers. D3X was encoded in the OWL 2 web ontology language and includes 3041 logical axioms, 1519 classes, 103 object properties, and 20 data properties. We compared D3X with publicly available ontologies in the dermatology domain using a semiotic theory-driven metric to measure the innate qualities of D3X with others. The results indicate that D3X is adequately comparable with other ontologies of the dermatology domain. The D3X ontology is a resource that can link and integrate dermoscopic differential diagnoses and supplementary information with existing ontology-based resources. Future directions include developing a web application based on D3X for dermoscopy education and clinical practice.