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

ABSTRACT:

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 w

SUBMITTER: Sabbaghi H 

PROVIDER: S-EPMC10403057 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature