Accepted for/Published in: JMIR Medical Informatics
Date Submitted: Jul 12, 2023
Open Peer Review Period: Jun 3, 2023 - Jul 29, 2023
Date Accepted: May 4, 2024
(closed for review but you can still tweet)
D3X: An Ontology to Aggregate and Link Dermoscopic Patterns to Differential Diagnoses
ABSTRACT
Background:
Dermoscopy is a growing field using microscopy to identify skin lesions by dermatologists and primary care physicians. For a given skin lesion, a wide variety of differential diagnoses exist, which may be challenging for inexperienced users to name and understand.
Objective:
: In this study, we describe the creation of the Dermoscopy Differential Diagnosis Explorer (D3X), an ontology linking dermoscopic patterns to differential diagnoses.
Methods:
Existing ontologies that were incorporated into D3X include the Elements of Visuals Ontology (EVO) and Dermoscopy Elements of Visuals Ontology (DEVO), 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.
Results:
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 innate qualities of D3X with others. The results indicate that D3X is adequately comparable with other ontologies of the dermatology domain.
Conclusions:
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.
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