Abstract
BackgroundWith recent advances in computerized patient records system, there is an urgent need for producing computable and standards-based clinical diagnostic criteria. Notably, constructing rule-based clinical diagnosis criteria has become one of the goals in the International Classification of Diseases (ICD)-11 revision. However, few studies have been done in building a unified architecture to support the need for diagnostic criteria computerization. In this study, we present a modular architecture for enabling the creation of rule-based clinical diagnostic criteria leveraging Semantic Web technologies.Methods and resultsThe architecture consists of two modules: an authoring module that utilizes a standards-based information model and a translation module that leverages Semantic Web Rule Language (SWRL). In a prototype implementation, we created a diagnostic criteria upper ontology (DCUO) that integrates ICD-11 content model with the Quality Data Model (QDM). Using the DCUO, we developed a transformation tool that converts QDM-based diagnostic criteria into Semantic Web Rule Language (SWRL) representation. We evaluated the domain coverage of the upper ontology model using randomly selected diagnostic criteria from broad domains (n = 20). We also tested the transformation algorithms using 6 QDM templates for ontology population and 15 QDM-based criteria data for rule generation. As the results, the first draft of DCUO contains 14 root classes, 21 subclasses, 6 object properties and 1 data property. Investigation Findings, and Signs and Symptoms are the two most commonly used element types. All 6 HQMF templates are successfully parsed and populated into their corresponding domain specific ontologies and 14 rules (93.3 %) passed the rule validation.ConclusionOur efforts in developing and prototyping a modular architecture provide useful insight into how to build a scalable solution to support diagnostic criteria representation and computerization.Electronic supplementary materialThe online version of this article (doi:10.1186/s13040-016-0113-5) contains supplementary material, which is available to authorized users.
Highlights
With recent advances in computerized patient records system, there is an urgent need for producing computable and standards-based clinical diagnostic criteria
In a previous study [26], we evaluated the feasibility of using Quality Data Model (QDM) for representing diagnostic criteria through a data-driven approach and suggested that common patterns informed by QDM are useful and feasible in building a standards-based information model for computable diagnostic criteria
22 classes came from the International Classification of Diseases (ICD)-11 content model with the namespace prefix ‘ICD,’ 10 of the classes are integrated from the QDM datatypes with the namespace prefix ‘QDM’ and 3 classes with the namespace prefix ‘diagnostic criteria upper ontology (DCUO)’ created for the need of representing diagnostic criteria in the Semantic Web Rule Language (SWRL) rules
Summary
With recent advances in computerized patient records system, there is an urgent need for producing computable and standards-based clinical diagnostic criteria. Few studies have been done in building a unified architecture to support the need for diagnostic criteria computerization. Diagnostic criteria are usually scattered over different media such as medical textbooks, literatures and clinical practice guidelines mostly in textual format. They are usually described in different narrative style, granularity, term usage and inner logic. There is an urgent need to develop a standard information model specification and a unified architecture to support the diagnostic criteria modeling and representation, and thereby enabling computerization and machine interpretability. To achieve a unified architecture, the following aspects should be considered: a) an information model that supports standard representation of diagnostic criteria; b) semantic interoperability and expressivity of a knowledge representation language; c) rule-based reasoning capability over factual knowledge; and d) a standard exchange format for different layers of the architecture
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