ICD-10 Coding for Down Syndrome(Q90.0, Q90.1, Q90.2, Q90.9)
Complete ICD-10-CM coding and documentation guide for Down Syndrome. Includes clinical validation requirements, documentation requirements, and coding pitfalls.
Also known as:
Related ICD-10 Code Ranges
Complete code families applicable to Down Syndrome
Q90.0-Q90.9Primary Range
Down syndrome and its variants
This range includes all types of Down syndrome, such as nonmosaic, mosaic, and translocation.
Code Comparison: When to Use Each Code
Compare key differences between these codes to ensure accurate selection
| Code | Description | When to Use | Key Documentation |
|---|---|---|---|
| Q90.0 | Trisomy 21, nonmosaicism | Use when genetic testing confirms nonmosaic trisomy 21. |
|
| Q90.1 | Trisomy 21, mosaicism | Use when genetic testing confirms mosaic trisomy 21. |
|
| Q90.2 | Trisomy 21, translocation | Use when genetic testing confirms translocation trisomy 21. |
|
| Q90.9 | Down syndrome, unspecified | Use when Down syndrome is suspected but not yet confirmed by genetic testing. |
|
Clinical Decision Support
Always review the patient's clinical documentation thoroughly. When in doubt, choose the more specific code and ensure documentation supports it.
Key Information: ICD-10 code for Down syndrome
Essential facts and insights about Down Syndrome
Primary ICD-10-CM Codes for down syndrome
Decision Criteria
clinical Criteria
- Confirmed nonmosaic trisomy 21 via karyotype.
Applicable To
- Nonmosaic Down syndrome
Clinical Validation Requirements
- Karyotype showing 47,XX,+21 or 47,XY,+21 in all cells
Code-Specific Risks
- Misclassification if genetic testing is not confirmed.
Coding Notes
- Ensure genetic testing results are documented.
Q90.1 - Trisomy 21, mosaicism
Use when genetic testing confirms mosaic trisomy 21.
Applicable To
- Mosaic Down syndrome
Excludes
- Nonmosaic Down syndrome (Q90.0)
- Translocation Down syndrome (Q90.2)
Clinical Validation Requirements
- Mosaicism (e.g., 46,XX/47,XX,+21) with percentage of abnormal cells
Coding Notes
Document mosaicism percentage and confirm with genetic testing.
Q90.2 - Trisomy 21, translocation
Use when genetic testing confirms translocation trisomy 21.
Applicable To
- Translocation Down syndrome
Excludes
- Nonmosaic Down syndrome (Q90.0)
- Mosaic Down syndrome (Q90.1)
Clinical Validation Requirements
- FISH/cytogenetics showing Robertsonian translocation (e.g., 46,XY,t(14;21)(q10;q10))
Coding Notes
Document translocation details and confirm with genetic testing.
Q90.9 - Down syndrome, unspecified
Use when Down syndrome is suspected but not yet confirmed by genetic testing.
Applicable To
- Unspecified Down syndrome
Excludes
- Nonmosaic Down syndrome (Q90.0)
- Mosaic Down syndrome (Q90.1)
- Translocation Down syndrome (Q90.2)
Clinical Validation Requirements
- Used when genetic testing is pending or inconclusive.
Coding Notes
Transition to a more specific code once genetic testing results are available.
Ancillary Codes
Additional codes that should be used in conjunction with the main diagnosis codes when applicable.
Mild intellectual disabilities
F70Congenital heart defects
Q21.2Gastrointestinal complications
K40-K46Intellectual disabilities
F70-F79Documentation & Coding Risks
Avoid these common documentation and coding issues when documenting Down Syndrome to ensure proper reimbursement, maintain compliance, and reduce audit risk. These guidelines are particularly important when using ICD-10 code Q90.0.
Impact
Clinical: May lead to inappropriate treatment plans., Regulatory: Non-compliance with coding standards., Financial: Potential loss of reimbursement due to incorrect DRG.
Mitigation Strategy
Regularly review genetic testing results., Update codes promptly upon confirmation.
Impact
Reimbursement: May lead to incorrect DRG assignment and reimbursement issues., Compliance: Non-compliance with coding guidelines., Data Quality: Impacts accuracy of patient records and data reporting.
Mitigation Strategy
Update to specific code (Q90.0, Q90.1, or Q90.2) once genetic testing confirms the type.
Impact
Lack of genetic testing documentation can lead to audit failures.
Mitigation Strategy
Ensure all genetic testing results are included in the patient's medical record.
Documentation errors, coding pitfalls, and audit risks are interconnected aspects of medical coding and billing. Addressing all three areas helps ensure accurate coding, optimal reimbursement, and regulatory compliance.
Frequently Asked Questions
Common questions about ICD-10 coding for Down Syndrome, with expert answers to help guide accurate code selection and documentation.
Documentation Templates for Down Syndrome
Use these documentation templates to ensure complete and accurate documentation for Down Syndrome. These templates include all required elements for proper coding and billing.
Newborn with confirmed Down syndrome
Specialty: PediatricsRequired Elements
- Genetic testing results
- Associated conditions
- Family history
Example Documentation
Examples: Poor vs. Good Documentation
Poor Documentation Example
Good Documentation Example
Explanation
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