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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...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10403057/ https://www.ncbi.nlm.nih.gov/pubmed/37540684 http://dx.doi.org/10.1371/journal.pone.0281858 |
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author | Sabbaghi, Hamideh Madani, Sina Ahmadieh, Hamid Daftarian, Narsis Suri, Fatemeh Khorrami, Farid Saviz, Proshat Shahriari, Mohammad Hasan Motevasseli, Tahmineh Fekri, Sahba Nourinia, Ramin Moradian, Siamak Sheikhtaheri, Abbas |
author_facet | Sabbaghi, Hamideh Madani, Sina Ahmadieh, Hamid Daftarian, Narsis Suri, Fatemeh Khorrami, Farid Saviz, Proshat Shahriari, Mohammad Hasan Motevasseli, Tahmineh Fekri, Sahba Nourinia, Ramin Moradian, Siamak Sheikhtaheri, Abbas |
author_sort | Sabbaghi, Hamideh |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10403057 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-104030572023-08-05 A health terminological system for inherited retinal diseases: Content coverage evaluation and a proposed classification Sabbaghi, Hamideh Madani, Sina Ahmadieh, Hamid Daftarian, Narsis Suri, Fatemeh Khorrami, Farid Saviz, Proshat Shahriari, Mohammad Hasan Motevasseli, Tahmineh Fekri, Sahba Nourinia, Ramin Moradian, Siamak Sheikhtaheri, Abbas PLoS One Research Article 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. Public Library of Science 2023-08-04 /pmc/articles/PMC10403057/ /pubmed/37540684 http://dx.doi.org/10.1371/journal.pone.0281858 Text en © 2023 Sabbaghi et al https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Research Article Sabbaghi, Hamideh Madani, Sina Ahmadieh, Hamid Daftarian, Narsis Suri, Fatemeh Khorrami, Farid Saviz, Proshat Shahriari, Mohammad Hasan Motevasseli, Tahmineh Fekri, Sahba Nourinia, Ramin Moradian, Siamak Sheikhtaheri, Abbas A health terminological system for inherited retinal diseases: Content coverage evaluation and a proposed classification |
title | A health terminological system for inherited retinal diseases: Content coverage evaluation and a proposed classification |
title_full | A health terminological system for inherited retinal diseases: Content coverage evaluation and a proposed classification |
title_fullStr | A health terminological system for inherited retinal diseases: Content coverage evaluation and a proposed classification |
title_full_unstemmed | A health terminological system for inherited retinal diseases: Content coverage evaluation and a proposed classification |
title_short | A health terminological system for inherited retinal diseases: Content coverage evaluation and a proposed classification |
title_sort | health terminological system for inherited retinal diseases: content coverage evaluation and a proposed classification |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10403057/ https://www.ncbi.nlm.nih.gov/pubmed/37540684 http://dx.doi.org/10.1371/journal.pone.0281858 |
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