Frequency-based rare diagnoses as a novel and accessible approach for studying rare diseases in large datasets: a cross-sectional study

Abstract Background Up to 8% of the general population have a rare disease, however, for lack of ICD-10 codes for many rare diseases, this population cannot be generically identified in large medical datasets. We aimed to explore frequency-based rare diagnoses (FB-RDx) as a novel method exploring ra...

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Bibliographic Details
Main Authors: Thomas S. Tröster, Viktor von Wyl, Patrick E. Beeler, Holger Dressel
Format: Article
Language:English
Published: BMC 2023-06-01
Series:BMC Medical Research Methodology
Subjects:
Online Access:https://doi.org/10.1186/s12874-023-01972-y