ICD10 code of Shwachman Diamond Syndrome and ICD9 code

Shwachman-Diamond Syndrome is primarily classified under the ICD-10 code D72.89 (other specified disorders of white blood cells) or K86.89 (other specified diseases of the pancreas), as there is no single, unique code dedicated exclusively to this condition. Under the older ICD-9-CM classification system, Shwachman-Diamond Syndrome was typically indexed under 279.8 (other specified disorders involving the immune mechanism) or 577.8 (other specified diseases of pancreas).

What is Shwachman-Diamond Syndrome?

Shwachman-Diamond Syndrome is a rare, multisystem genetic disorder characterized by exocrine pancreatic insufficiency, hematologic dysfunction, and skeletal abnormalities. Because Shwachman-Diamond Syndrome is complex, medical coding can vary depending on which organ system is the primary focus of a specific clinical encounter, such as bone marrow failure or malabsorption issues.

How is Shwachman-Diamond Syndrome diagnosed?

Diagnosis of Shwachman-Diamond Syndrome is confirmed through a combination of clinical assessment and genetic testing. Clinicians look for the following hallmark features:

• Pancreatic insufficiency: Often manifesting as steatorrhea or failure to thrive in infancy.


• Hematologic abnormalities: Including neutropenia (the most common hematologic finding), anemia, or thrombocytopenia.


• Genetic mutations: Pathogenic variants in the SBDS gene are present in approximately 90% of individuals with Shwachman-Diamond Syndrome.


• Skeletal findings: Metaphyseal dysostosis, particularly affecting the hips and knees.

Is Shwachman-Diamond Syndrome hereditary?

Yes, Shwachman-Diamond Syndrome follows an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the mutated gene—one from each parent—to manifest Shwachman-Diamond Syndrome. Genetic counseling is highly recommended for families to understand the 25% recurrence risk for each pregnancy.

How does the DiseaseMaps community support those with this condition?

Living with a rare diagnosis can feel isolating, but you are not alone. Currently, 14 people with Shwachman-Diamond Syndrome are active on DiseaseMaps.org, sharing their personal experiences and management strategies to help others navigate life with this condition.

Next steps

• Consult with a hematologist or a pediatric gastroenterologist who specializes in Shwachman-Diamond Syndrome.


• Connect with the 14 members on DiseaseMaps.org to share insights and build a support network.


• Review the Shwachman-Diamond Syndrome Registry to see if you qualify for current research or clinical trials.

Medical disclaimer: This information is for educational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician regarding any medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Shwachman-Diamond Syndrome.


• Orphanet: Shwachman-Diamond Syndrome (ORPHA:802).


• OMIM (Online Mendelian Inheritance in Man): Entry #260400 (SBDS).


• Shwachman-Diamond Syndrome Foundation (SDSF).