A Methodology for Building a Medical Ontology with a Limited Domain Experts’ Involvement

Ontology development is a multidisciplinary work involving domain experts and knowledge engineers. Bringing together such a team to develop an ontology of quality is not easy. Therefore, ontologies are often created with limited expertise either in the medical domain or in ontology engineering. Unfo...

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Main Author: Sabrina Azzi
Format: Article
Language:English
Published: MDPI AG 2025-05-01
Series:Digital
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Online Access:https://www.mdpi.com/2673-6470/5/2/18
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author Sabrina Azzi
author_facet Sabrina Azzi
author_sort Sabrina Azzi
collection DOAJ
description Ontology development is a multidisciplinary work involving domain experts and knowledge engineers. Bringing together such a team to develop an ontology of quality is not easy. Therefore, ontologies are often created with limited expertise either in the medical domain or in ontology engineering. Unfortunately, the existing methodologies do not provide much guidance on how the different steps of ontology development should be performed, particularly in the case of reduced involvement of domain experts. This challenge is getting more difficult when there is a multitude of medical knowledge sources and ontologies covering parts of the domain, and often, each has a different representation of the same concept, for example, as a symptom, disease, or clinical sign. This research presents a methodology for creating a medical ontology of quality with limited involvement of the domain experts. The latter are only consulted in the domain definition and evaluation phases. We combine building an ontology from codified knowledge and ontology reuse to enhance reusability and interoperability. The methodology is inspired by METHONTOLOGY, for which we make several improvements, especially in the ontology reuse phase. We provide proof of concept of the proposed methodology with a case study involving the development of the pneumonia diagnosis ontology (PNADO).
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spelling doaj-art-5bc7aeaf56054f44be5fc55d6c4789242025-08-20T03:27:31ZengMDPI AGDigital2673-64702025-05-01521810.3390/digital5020018A Methodology for Building a Medical Ontology with a Limited Domain Experts’ InvolvementSabrina Azzi0School of Business & Creative Industries, University of the West of Scotland, High St, Paisley PA1 2BE, UKOntology development is a multidisciplinary work involving domain experts and knowledge engineers. Bringing together such a team to develop an ontology of quality is not easy. Therefore, ontologies are often created with limited expertise either in the medical domain or in ontology engineering. Unfortunately, the existing methodologies do not provide much guidance on how the different steps of ontology development should be performed, particularly in the case of reduced involvement of domain experts. This challenge is getting more difficult when there is a multitude of medical knowledge sources and ontologies covering parts of the domain, and often, each has a different representation of the same concept, for example, as a symptom, disease, or clinical sign. This research presents a methodology for creating a medical ontology of quality with limited involvement of the domain experts. The latter are only consulted in the domain definition and evaluation phases. We combine building an ontology from codified knowledge and ontology reuse to enhance reusability and interoperability. The methodology is inspired by METHONTOLOGY, for which we make several improvements, especially in the ontology reuse phase. We provide proof of concept of the proposed methodology with a case study involving the development of the pneumonia diagnosis ontology (PNADO).https://www.mdpi.com/2673-6470/5/2/18medical ontology engineeringontology reuseclinical practice guidelinesOBO Foundrycompetency questionspneumonia diagnosis
spellingShingle Sabrina Azzi
A Methodology for Building a Medical Ontology with a Limited Domain Experts’ Involvement
Digital
medical ontology engineering
ontology reuse
clinical practice guidelines
OBO Foundry
competency questions
pneumonia diagnosis
title A Methodology for Building a Medical Ontology with a Limited Domain Experts’ Involvement
title_full A Methodology for Building a Medical Ontology with a Limited Domain Experts’ Involvement
title_fullStr A Methodology for Building a Medical Ontology with a Limited Domain Experts’ Involvement
title_full_unstemmed A Methodology for Building a Medical Ontology with a Limited Domain Experts’ Involvement
title_short A Methodology for Building a Medical Ontology with a Limited Domain Experts’ Involvement
title_sort methodology for building a medical ontology with a limited domain experts involvement
topic medical ontology engineering
ontology reuse
clinical practice guidelines
OBO Foundry
competency questions
pneumonia diagnosis
url https://www.mdpi.com/2673-6470/5/2/18
work_keys_str_mv AT sabrinaazzi amethodologyforbuildingamedicalontologywithalimiteddomainexpertsinvolvement
AT sabrinaazzi methodologyforbuildingamedicalontologywithalimiteddomainexpertsinvolvement