AHA Coding Clinic® for ICD-10-CM and ICD-10-PCS - 2023 Issue 4; New/Revised ICD-10-CM Codes
Shwachman-Diamond Syndrome
A new code was created to identify Shwachman-Diamond syndrome (D61.02). Shwachman-Diamond syndrome (SDS) is a rare, genetic condition with bone marrow failure, characterized by poor growth due to difficulty absorbing food, a low number of white blood cells, and in some cases, skeletal abnormalities. Symptoms in infants born with SDS typically appear by four to six months of age. Children with SDS have a higher chance of developing blood disorders such as leukemia or myelodysplastic syndrome. Nearly five percent of children with SDS will develop leukemia, with the risk growing to 25 percent by adulthood. In addition...
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Article Overview
This article explains the clinical background of Shwachman-Diamond syndrome and notes that a new diagnosis code was created for it. It covers the disorder’s major signs, affected organ systems, associated blood and growth issues, genetic basis, and the types of specialist care often involved. The piece is useful for coders, CDI staff, and clinicians who need a high-level understanding of the condition and its documentation context.
Why This Topic Matters
Accurate recognition and documentation of rare genetic conditions supports appropriate diagnosis coding, coordination of care, and communication across specialties. The article also helps readers understand why the condition may appear in records with multi-system findings and long-term monitoring needs.
What You Will Learn
- The general clinical picture of Shwachman-Diamond syndrome
- Which organ systems and symptoms are commonly associated with the condition
- Why the disorder may involve multiple medical specialties
- The hereditary and genetic basis of the syndrome
- The types of supportive care commonly described for affected patients
Who Should Read This
- Medical coders
- Clinical documentation improvement specialists
- Physicians
- Nurse practitioners
- Health information management professionals
Codes Discussed
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