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Home/Diagnosis/ICD-10 Coding for Down Syndrome

ICD-10 Coding for Down Syndrome

Q90.0
Q90.1
Q90.2

Complete ICD-10-CM coding and documentation guide for icd-10 coding for down syndrome includes clinical validation requirements, medical necessity guidelines, and coding policies.

Also Known as:
Trisomy 21
Mongolism
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Key Information: ICD-10 Coding for Down Syndrome

Essential facts and insights about ICD-10 Coding for Down Syndrome

Use ICD-10 code Q90.0 for trisomy 21, nonmosaicism, ensuring proper documentation in clinical notes.

Primary ICD-10-CM Codes

Trisomy 21, nonmosaicism

Billable Code
Q90.0
Billable

Diagnostic Criteria

  • • Confirmed nonmosaic trisomy 21 via karyotype.

Applicable To

  • • Nonmosaic Down syndrome

Important Notes

  • • Ensure genetic testing results are documented.

Trisomy 21, mosaicism

Billable Code
Q90.1
Billable

Diagnostic Criteria

  • • Mosaicism (e.g., 46,XX/47,XX,+21) with percentage of abnormal cells

Applicable To

  • • Mosaic Down syndrome

Important Notes

  • • Document mosaicism percentage and confirm with genetic testing.

Trisomy 21, translocation

Billable Code
Q90.2
Billable

Diagnostic Criteria

  • • FISH/cytogenetics showing Robertsonian translocation (e.g., 46,XY,t(14;21)(q10;q10))

Applicable To

  • • Translocation Down syndrome

Important Notes

  • • Document translocation details and confirm with genetic testing.

Down syndrome, unspecified

Billable Code
Q90.9
Billable

Diagnostic Criteria

  • • Used when genetic testing is pending or inconclusive.

Applicable To

  • • Unspecified Down syndrome

Important Notes

  • • Transition to a more specific code once genetic testing results are available.
Ancillary Codes

Additional codes that may be used with this diagnosis

F70

Mild intellectual disabilities

Use when intellectual disabilities are present.

Q21.2

Congenital heart defects

Use when congenital heart defects are present.

K40-K46

Gastrointestinal complications

Use when gastrointestinal complications are present.

F70-F79

Intellectual disabilities

Use when intellectual disabilities are present.

Frequently Asked Questions

What is the ICD-10 code for Down syndrome?

The ICD-10 code for Down syndrome varies based on type: Q90.0 for nonmosaic, Q90.1 for mosaic, and Q90.2 for translocation.

How do you code Down syndrome with heart defects?

Use Q90.0-Q90.2 for Down syndrome type and add Q21.2 for congenital heart defects.

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