A health terminological system for inherited retinal diseases: Content coverage evaluation and a proposed classification.

PURPOSE: To present a classification of inherited retinal diseases (IRDs) and evaluate its content coverage in comparison with common standard terminology systems. METHODS: In this comparative cross-sectional study, a panel of subject matter experts annotated a list of IRDs based on a comprehensive review of the literature. Then, they leveraged clinical terminologies from various reference sets including Unified Medical Language System (UMLS), Online Mendelian Inheritance in Man (OMIM), International Classification of Diseases (ICD-11), Systematized Nomenclature of Medicine (SNOMED-CT) and Orphanet Rare Disease Ontology (ORDO). RESULTS: Initially, we generated a hierarchical classification of 62 IRD diagnosis concepts in six categories. Subsequently, the classification was extended to 164 IRD diagnoses after adding concepts from various standard terminologies. Finally, 158 concepts were selected to be classified into six categories and genetic subtypes of 412 cases were added to the related concepts. UMLS has the greatest content coverage of 90.51% followed respectively by SNOMED-CT (83.54%), ORDO (81.01%), OMIM (60.76%), and ICD-11 (60.13%). There were 53 IRD concepts (33.54%) that were covered by all five investigated systems. However, 2.53% of the IRD concepts in our classification were not covered by any of the standard terminologies. CONCLUSIONS: This comprehensive classification system was established to organize IRD diseases based on phenotypic and genotypic specifications. It could potentially be used for IRD clinical documentation purposes and could also be considered a preliminary step forward to developing a more robust standard ontology for IRDs or updating available standard terminologies. In comparison, the greatest content coverage of our proposed classification was related to the UMLS Metathesaurus.

Staff and students' perceptions about using telehealth technology in a medical university: A qualitative study.

INTRODUCTION: The use of telehealth technology is a way to promote the health status of the community. The purpose of this study was to investigate staff and students' perceptions about using telehealth technology in a medical university. METHODS: This was a qualitative study completed in 2020. The research participants were 26 university staff and students who took part in semi-structured interviews. To analyze the data, the thematic analysis method was used. RESULTS: The findings of the present study included five themes, 20 subthemes and 58 categories. The main themes were the current status of providing healthcare services at the university, and the strengths, weaknesses, opportunities and threats of using telehealth technology for the university staff and students. CONCLUSION: According to the results, there are many opportunities for using telehealth technology in the medical university. The experiences of other institutes can be used to implement the technology successfully.

The First Inherited Retinal Disease Registry in Iran: Research Protocol and Results of a Pilot Study.

BACKGROUND: To describe the protocol for developing a national inherited retinal disease (IRD) registry in Iran and present its initial report. METHODS: This community-based participatory research was approved by the Ministry of Health and Medical Education of Iran in 2016. To provide the minimum data set (MDS), several focus group meetings were held. The final MDS was handed over to an engineering team to develop a web-based software. In the pilot phase, the software was set up in two referral centers in Iran. Final IRD diagnosis was made based on clinical manifestations and genetic findings. Ultimately, patient registration was done based on all clinical and non-clinical manifestations. RESULTS: Initially, a total of 151 data elements were approved with Delphi technique. The registry software went live at www. IRDReg.org based on DHIS2 open source license agreement since February 2016. So far, a total of 1001 patients have been registered with a mean age of 32.41±15.60 years (range, 3 months to 74 years). The majority of the registered patients had retinitis pigmentosa (42%, 95% CI: 38.9% to 45%). Genetic testing was done for approximately 20% of the registered individuals. CONCLUSION: Our study shows successful web-based software design and data collection as a proof of concept for the first IRD registry in Iran. Multicenter integration of the IRD registry in medical centers throughout the country is well underway as planned. These data will assist researchers to rapidly access information about the distribution and genetic patterns of this disease.