In:
PLOS ONE, Public Library of Science (PLoS), Vol. 18, No. 8 ( 2023-8-4), p. e0281858-
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
1932-6203
DOI:
10.1371/journal.pone.0281858
DOI:
10.1371/journal.pone.0281858.g001
DOI:
10.1371/journal.pone.0281858.g002
DOI:
10.1371/journal.pone.0281858.g003
DOI:
10.1371/journal.pone.0281858.g004
DOI:
10.1371/journal.pone.0281858.t001
DOI:
10.1371/journal.pone.0281858.t002
DOI:
10.1371/journal.pone.0281858.s001
DOI:
10.1371/journal.pone.0281858.s002
DOI:
10.1371/journal.pone.0281858.s003
DOI:
10.1371/journal.pone.0281858.s004
DOI:
10.1371/journal.pone.0281858.s005
DOI:
10.1371/journal.pone.0281858.s006
DOI:
10.1371/journal.pone.0281858.s007
DOI:
10.1371/journal.pone.0281858.r001
DOI:
10.1371/journal.pone.0281858.r002
DOI:
10.1371/journal.pone.0281858.r003
DOI:
10.1371/journal.pone.0281858.r004
DOI:
10.1371/journal.pone.0281858.r005
DOI:
10.1371/journal.pone.0281858.r006
Language:
English
Publisher:
Public Library of Science (PLoS)
Publication Date:
2023
detail.hit.zdb_id:
2267670-3
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