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Review
. 2023 Oct 25:11:1283880.
doi: 10.3389/fped.2023.1283880. eCollection 2023.

Surfacing undiagnosed disease: consideration, counting and coding

Megan F Baxter  1   2 , Michele Hansen  3   4 , Dylan Gration  4 , Tudor Groza  3   5 , Gareth Baynam  4   5   6
Affiliations
Review

Surfacing undiagnosed disease: consideration, counting and coding

Megan F Baxter et al. Front Pediatr. .

Abstract

The diagnostic odyssey for people living with rare diseases (PLWRD) is often prolonged for myriad reasons including an initial failure to consider rare disease and challenges to systemically and systematically identifying and tracking undiagnosed diseases across the diagnostic journey. This often results in isolation, uncertainty, a delay to targeted treatments and increase in risk of complications with significant consequences for patient and family wellbeing. This article aims to highlight key time points to consider a rare disease diagnosis along with elements to consider in the potential operational classification for undiagnosed rare diseases during the diagnostic odyssey. We discuss the need to create a coding framework that traverses all stages of the diagnostic odyssey for PLWRD along with the potential benefits this will have to PLWRD and the wider community.

Keywords: ICD-11; diagnostic coding; diagnostic odyssey; key timepoints; rare disease; red flags.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Timepoints to consider a rare disease diagnosis.
See this image and copyright information in PMC

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