Surfacing undiagnosed disease: consideration, counting and coding

Frontiers in Pediatrics

Pediatrics

Megan F. Baxter¹  Tudor Groza²  Michele Hansen³  Dylan Gration⁴  Gareth Baynam⁵ 

[1] Emergency Department, Perth Children’s Hospital, Perth, WA, Australia;School of Medicine and Dentistry, Griffith University, Gold Coast, QLD, Australia;Telethon Kids Institute, University of Western Australia, Perth, WA, Australia;Rare Care Centre, Perth Children’s Hospital, Perth, WA, Australia;Telethon Kids Institute, University of Western Australia, Perth, WA, Australia;Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, WA, Australia;Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, WA, Australia;Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, WA, Australia;Rare Care Centre, Perth Children’s Hospital, Perth, WA, Australia;Undiagnosed Diseases Program, WA, Genetic Services of WA, Perth, WA, Australia;

关键词: rare disease;    ICD-11;    diagnostic odyssey;    diagnostic coding;    red flags;    key timepoints;   

DOI  :  10.3389/fped.2023.1283880

 received in 2023-09-01, accepted in 2023-10-12,  发布年份 2023

来源: Frontiers

【 摘 要 】

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.

【 授权许可】

Unknown   
© 2023 Baxter, Hansen, Gration, Groza and Baynam.