The ICD Code Roadmap Guide was published to help patient advocacy organizations, researchers, clinicians, and industry partners understand how to create or revise ICD-10-CM diagnosis codes.
Accurate ICD diagnosis codes are foundational to improving care, research, reimbursement, and public health tracking – especially for rare diseases. Many rare diseases either lack specific diagnosis codes or are grouped under broad categories, making it difficult to measure prevalence, track outcomes, conduct research, or ensure patients receive appropriate care and insurance coverage.
Frequently Asked Questions About ICD Codes
ICD Codes are a diagnostic and procedure coding system endorsed by the World Health Organization (WHO).
Learn more about ICD Codes
ICD Code Roadmap Acknowledgements
Special thanks to the rare disease community and ICD Code Roadmap sponsors.
Creators
- Project Director: Annie Kennedy, Chief Mission Officer, RARE Foundation
- Principal Architects, Researchers and Authors of the ICD Code Roadmap Project: K. Kimberly McCleary and Samantha Mayberry, The Kith Collective
- ICD Code Roadmap Video Concept, Illustration and Production: Tom Benthin
- Graphic Design and Layout for the ICD Code Roadmap Guide: Julie Rathjens, Hello Brand | Design Creative
Contributors
With sincere appreciation to the following individuals who were interviewed and/or helped to review drafts of materials developed as part of the ICD Code Roadmap:
- Diane Berry, PhD, Senior Vice President, Global Health Policy, Government and Patient Affairs, Sarepta Therapeutics
- Tara Britt, Founder and President, Rare Disease Innovations Institute, Inc.; Associate Chair, North Carolina Rare Disease Advisory Council and Network
- David Eckstein, PhD, Program Director for Strategic Partnerships and Policy Development, Office of Clinical Research, National Institutes of Health
- David Fajgenbaum, MD, MBA, MSc, FCPP, Co-Founder and Executive Director, Castleman Disease Collaborative Network; Assistant Professor of Medicine, Translational Medicine & Human Genetics, University of Pennsylvania; Associate Director, Patient Impact, Penn Orphan Disease Center
- Lisa Feng, DrPH, Senior Director, Health Policy, Alexion Pharmaceuticals
- Patty Fritz, MS, Vice President, U.S. Corporate Affairs, UCB Pharma; Jed Perry, MPA, Head, U.S. Public Policy, UCB Pharma; and Allyson Funk, MA, Head, U.S. Communications and Public Affairs, UCB Pharma
- Stephen Groft, PharmD, Senior Advisor, National Center for Advancing Translational Sciences, National Institutes of Health
- Linda Holtzman, MHA, RHIA, CCS, CCS-P, CPC, COC, President, Clarity Coding Inc.
- Janet Maynard, MD, MHS, Director, Office of Orphan Products Development, US Food and Drug Administration
- Paul Melmeyer, MPP, Vice President, Public Policy & Advocacy, Muscular Dystrophy Association
- Mary Anne Meskis, Executive Director, Dravet Syndrome Foundation
- Anne Pariser, MD, Director, Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health
- Emily Phillips, Executive Director, Reimbursement Strategy & Patient Access, Pharming Healthcare and Phillipe Adams, MBA, Vice President, Market Access, Pharming Healthcare
- Catherine Riley, MD, Team Lead, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control; Natalie Street, MS, CGC, Health Scientist, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control; and Rodolfo Valdez, PhD, Deputy Director for Non-Infectious Diseases, National Center on Birth Defects and Developmental Disabilities, Division of Birth Defects and Infant Disorders, Centers for Disease Control
- Hans Schlecht, MD, MMSs, Science & Medicine Lead, SYNGAP Research Fund
- Jennifer Shumsky, RN, BSN, CHCO, Director, Payer Relations, Little Hercules Foundation
- Susan Walther, MS, CGC, Director of Patient Engagement, Friedreich’s Ataxia Research Alliance (FARA)
Sponsors
The ICD Code Roadmap was made possible through unrestricted educational grants provided to the RARE Foundation by the following life science companies:
