Information content as a health system screening tool for rare diseases.

ABSTRACT: Rare diseases (RD) affect 3.5-5.9% of the global population, yet patients often endure a diagnostic odyssey averaging around 5-6 years, navigating multiple specialties and referrals. This study investigates the use of information content (IC) as a screening tool to identify RD candidates using SNOMED CT, the clinical terminology standard for the electronic health record (EHR) in the Singapore health system. A longitudinal dataset of 1,274,199 patients (2018-2022) containing 35,898 unique SNOMED terms was analyzed. Rare disease patients (n = 17,575) were identified through SNOMED-Orphanet mappings. IC effectively distinguished RD patient profiles from the first clinical encounter by applying outcome-driven thresholds. The simplicity of implementing the proposed method enables a screening te

SUBMITTER: Groza T 

PROVIDER: S-EPMC12647614 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature