Surfacing undiagnosed disease: consideration, counting and coding

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.

Citation:
Baxter MF, Hansen M, Gration D, Groza T, Baynam G. Surfacing undiagnosed disease: consideration, counting and coding. Front Pediatr. 2023;11

Keywords:
Rare disease, ICD-11, diagnostic odyssey, diagnostic coding, red flags, key timepoints

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.