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Shwachman-Diamond Syndrome Receives ICD-10 Code, Paving the Way for Improved Care and Therapies

Shwachman-Diamond Syndrome receives new ICD-10 Diagnostic Code, Paving the Way For Improved Patient Care and New Treatment Options. Code D61.02 goes into effect October 2023.

Woburn, MA (August 8th, 2023) — In a monumental leap forward for Shwachman-Diamond Syndrome research, treatment, and patient care, the Shwachman-Diamond Syndrome Alliance is thrilled to announce that the US version of the authoritative international diagnostic manual will soon include a unique diagnostic code for Shwachman-Diamond Syndrome — a rare genetic disorder with often devastating outcomes for patients, first described in 1964.

In its latest revision, the International Classification of Diseases, Clinical Modification (or ICD-10-CM) officially recognizes Shwachman-Diamond Syndrome as a distinct disease, with code D61.02 going live October 2023. This change could pave the way for improved treatments, novel therapies, and someday a cure.

Dr. Eszter Hars, Ph.D, President and CEO of SDS Alliance, elaborates: “This represents a major milestone for the SDS community; one that will be instrumental in future progress for better understanding and better treatments for SDS patients worldwide. By assigning this ICD-10-CM code, the CDC is formally recognizing SDS as a discrete and important disease worthy of tracking and coding in the ICD system, and that will make a life-altering difference for people affected by the condition.”

Previously, SDS was not coded as such in medical records. Instead, healthcare professionals resorted to using general ICD-10 codes, which encompass multiple conditions or individual symptoms but aren't custom tailored for SDS. While such codes may have sufficed for insurance purposes, they fell short when it came to tracking or understanding the journey of SDS patients within healthcare systems. SDS was essentially invisible.

Dr. Hars explains further, “This specific and unique code for SDS will help provide invaluable insights and data into the number of patients, the range and severity of symptoms, as well as the types and timing of treatments, testing, and services they receive, and the outcomes of those interventions. It will also help simplify and streamline the insurance reimbursement process for patients and make it easier to receive the most appropriate and beneficial medical care, tests, treatments, therapies, and services.”

Most importantly, Dr. Hars stresses, the change will help accelerate therapy development by capturing new data that is crucial for driving further investments in research.

“The newly approved ICD-10 code for Shwachman-Diamond Syndrome will improve patient care for individuals with SDS,” said Dr. Lisa McReynolds, of the National Cancer Institute, part of the National Institutes of Health. “Insurance approvals will be easier to process, and medical records will be standardized, facilitating research on this rare syndrome. This is a milestone achievement for the SDS Alliance that will benefit all SDS patients, including those enrolled in the NCI Inherited Bone Marrow Failure Syndrome study (NCT00027274).”

Shwachman-Diamond Syndrome: A Brief Overview

Shwachman-Diamond Syndrome is a distinct genetic condition characterized by the body's inability to produce adequate amounts of protein, which plays a pivotal role in every cellular and organ function and is fundamental to life. Consequently, many of the body's systems are adversely impacted in SDS patients.

To create new proteins, the body relies on sub-cellular structures called ribosomes to perform the complex assembly. Ribosomes work much like hands assembling LEGO towers, but instead of plastic blocks, they stack amino acids in specific patterns to build a variety of proteins. The specific sequence of amino acids, as determined by the genetic code found in DNA, is what dictates the proteins’ three-dimensional shape and, ultimately, their function.

A genetic anomaly found in SDS patients results in their cells being unable to form enough functional ribosomes, leading to an overall decline in protein synthesis. This deficiency manifests differently across patients and their respective organs, resulting in a range of symptoms.

Many individuals with SDS encounter digestive issues and pancreatic challenges that can lead to malnutrition, pain, and failure to thrive. Others face complications with their immune system, making them prone to frequent or severe infections and hospitalization. Additionally, some patients grapple with cognitive issues, which can cause learning and behavioral challenges.

Notably, by the age of 30, approximately one-third of those with SDS will confront grave complications related to their bone marrow, such as aplastic anemia and leukemia — the latter being particularly alarming due to its dire prognosis.

Diagnostic challenges can further complicate matters. A significant number of SDS patients face misdiagnoses or endure prolonged waiting periods before receiving an accurate diagnosis. Such delays can result in undue distress, unnecessary invasive procedures, ineffective treatments, and in grave cases, even death from leukemia and other associated complications.

The most reliable method for diagnosing SDS is genetic testing; specifically, identifying the presence of mutations in the SBDS or other genes responsible for the disorder. For the well-being and longevity of SDS patients, it's imperative that diagnosis is both swift and precise.

The Long, Arduous Path to ICD-10-CM Classification

The path to obtaining a new code for a previously unclassified disorder involves a long and challenging process.

In the US, the CDC’s ICD-10 Coordination and Maintenance Committee selects proposals for live presentations either at its headquarters in Baltimore or virtually twice a year. In December 2021, the SDS Alliance, aided by Medical Advisory Board member and NICER consortium director Dr. Kelly Jo Walkovich, University of Michigan, C.S. Mott Children's Hospital, along with collaborator Dr. Alison A. Bertuch, Texas Children's Hospital and Baylor College of Medicine, submitted a proposal for a new code. Their proposal was then selected for presentation at the March 2022 meeting. During the public comment period that followed, major organizations such as the NIH IBMF study, the American Society of Hematology, the Leukemia and Lymphoma Society, the Aplastic Anemia & MDS International Foundation, and The American Society of Pediatric Hematology/Oncology, submitted letters of support. The new code was officially accepted in July 2023 and will be active starting October 1st, 2023.

The SDS Alliance credits Dr. Terry Jo Bichell from COMBINEDBrain for her guidance and support throughout the effort.

Dr. Bichell explains, “Because rare genetic disorders like SDS will likely be treated based on their underlying genetics and molecular mechanism, unique ICD-10 codes for each genetic disorder are crucial to identify, track and treat patients. This new code will help patients with SDS get the medical care they need. We at COMBINEDBrain are proud of the SDS Alliance for their work on this, and we are grateful to the CDC committee for recognizing the necessity of a code for Shwachman-Diamond Syndrome.”

The International Classification of Disease

The ICD is a collaborative effort by the World Health Organization, the Centers for Medicare and Medicaid Services, and the Centers for Disease Control and Prevention. It is a global tool that allows medical professionals, insurers, and public health experts to categorize and code healthcare-related encounters. Launched by WHO in 1948, the ICD has seen multiple revisions. The 10th version was ratified in 1994, with US adoption following later. While the WHO approved the updated ICD-11 for introduction in 2022, US adoption will likewise lag by a few years. In the meantime, the US continues with ICD-10, ensuring the newly added SDS code remains active.

The Shwachman-Diamond Syndrome Alliance

The SDS Alliance is a 501(c)(3) nonprofit organization dedicated to building a world where all patients affected by Shwachman-Diamond Syndrome can live full lives. The SDS Alliance focuses on driving research and paving the path toward therapies and cures by funding and coordinating research, building research tools and infrastructure, and fostering advocacy, collaboration, and knowledge sharing. The SDS Alliance brings together patients, caregivers, researchers, clinicians, and other diverse stakeholders to better understand, diagnose, and treat this devastating genetic cancer predisposition disorder. The SDS Alliance was launched in 2020 by the parents of a child with SDS, both of whom are biomedical researchers and entrepreneurs. Learn more at

North American Immuno-Hematology Clinical Education & Research Consortium (NICER)

The mission of the NICER consortium is to provide a collaborative multidisciplinary environment to advance the education, clinical care, and research involving pediatric and adult patients with immuno-hematologic disorders. The target patient population encompasses all disorders within immuno-hematology including those with complex immune cytopenias, bone marrow failure, lymphoproliferative and histiocytic disorders, immune deficiencies, autoinflammatory disorders and immune dysregulatory syndromes along with emerging phenotypes of a similar nature. Given that institutional referral patterns and expertise vary, NICER is committed to being purposefully inclusive of pediatric and adult providers from multiple disciplines including, allergy/immunology, genetics, hematology/oncology, hematopoietic stem cell transplant, rheumatology, infectious disease, gastroenterology, endocrinology, etc. to enrich the educational environment and research goals of the consortium. Learn more at

NCI Inherited Bone Marrow Failure Syndrome Study (NCT00027274)

Inherited bone marrow failure syndromes are a group of rare disorders of the bone marrow that can result in a number of medical conditions, including a high risk of cancer. Over the past several decades, researchers and clinicians at the National Cancer Institute have studied individuals with these syndromes in order to better understand their genetic causes and medical complications. Their overall goal is to improve the health care for persons with these disorders. The NCI IBMFS Cohort Study enrolls families that have at least one member with an IBMFS, such as Shwachman-Diamond Syndrome. There have been many medical advances as a result of the study, including the identification of several new genetic causes of IBMFS. Learn more at


The Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders is a non-profit organization devoted to speeding the path to clinical treatments for people with rare genetic neurodevelopmental disorders by pooling efforts, studies and data.

More Information

Visit the ICD resource page of the SDS Alliance at

Media Contact

Eszter Hars, Ph.D.

President and CEO, Shwachman-Diamond Syndrome Alliance


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