<p>The Diagnostic Odyssey in rare diseases; a Task and Finish Group report for the Department of Health and Social Care</p>

Eleanor Hay; Frances Elmslie; Peter Lanyon; Trevor Cole

doi:10.3310/nihropenres.1115171.1

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Hay E, Elmslie F, Lanyon P and Cole T. The Diagnostic Odyssey in rare diseases; a Task and Finish Group report for the Department of Health and Social Care [version 1; not peer reviewed]. NIHR Open Res 2022, 2:3 (document) (https://doi.org/10.3310/nihropenres.1115171.1)

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The Diagnostic Odyssey in rare diseases; a Task and Finish Group report for the Department of Health and Social Care

Eleanor Hay¹, Frances Elmslie², Peter Lanyon³, Trevor Cole⁴

Published 27 Jan 2022 (https://doi.org/10.3310/nihropenres.1115171.1)

Author Affiliations

¹ Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK
² South West Thames Genomics, St George’s University Hospitals NHS Foundation Trust, London, UK
³ Department of Rheumatology, Nottingham University Hospitals NHS Trust, Nottingham, UK
⁴ Department of Clinical Genetics, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

Copyright © 2022 Hay E et al. This is an open access work distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Published 27 Jan 2022

Report

The Diagnostic Odyssey in rare diseases; a Task and Finish Group report for the Department of Health and Social Care
[version 1; not peer reviewed]

Eleanor Hay¹, Frances Elmslie², Peter Lanyon³, Trevor Cole⁴

Author Affiliations

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Not Applicable

Competing Interests

PCL is a recipient of a research grant from Vifor Pharma, paid to the University of Nottingham.

Keywords

rare diseases, diagnostic odyssey, outpatient diagnostic coding, Tuberous Sclerosis Complex, Bardet Biedl Syndrome, ANCA-associated Vasculitis, NCARDRS

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The Diagnostic Odyssey in rare diseases; a Task and Finish Group report for the Department of Health and Social Care

Report

The Diagnostic Odyssey in rare diseases; a Task and Finish Group report for the Department of Health and Social Care
[version 1; not peer reviewed]

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The Diagnostic Odyssey in rare diseases; a Task and Finish Group report for the Department of Health and Social Care

Report The Diagnostic Odyssey in rare diseases; a Task and Finish Group report for the Department of Health and Social Care [version 1; not peer reviewed]

Terms relating to user comments

Are you an NIHR-funded researcher?

Thank you!

Report

The Diagnostic Odyssey in rare diseases; a Task and Finish Group report for the Department of Health and Social Care
[version 1; not peer reviewed]