Q90-Q99
Medium Complexity

Chromosomal abnormalities, not elsewhere classified

Primary Specialty: Genetics
Last Updated: 2025-09-10

ICD-10 Codes (76)

67 billable
2 category headers
Q91
Trisomy 18 and Trisomy 13
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Q91.0
Billable
Trisomy 18, nonmosaicism (meiotic nondisjunction)
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Q91.1
Billable
Trisomy 18, mosaicism (mitotic nondisjunction)
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Q91.2
Billable
Trisomy 18, translocation
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Q91.3
Billable
Trisomy 18, unspecified
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Q91.4
Billable
Trisomy 13, nonmosaicism (meiotic nondisjunction)
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Q91.5
Billable
Trisomy 13, mosaicism (mitotic nondisjunction)
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Q91.6
Billable
Trisomy 13, translocation
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Q91.7
Billable
Trisomy 13, unspecified
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Q92
Billable
Other trisomies and partial trisomies of the autosomes, not elsewhere classified
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Q92.0
Billable
Whole chromosome trisomy, nonmosaicism (meiotic nondisjunction)
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Q92.1
Billable
Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
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Q92.2
Billable
Partial trisomy
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Q92.5
Billable
Duplications with other complex rearrangements
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Q92.6
Billable
Marker chromosomes
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Q92.61
Billable
Marker chromosomes in normal individual
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Q92.62
Billable
Marker chromosomes in abnormal individual
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Q92.7
Billable
Triploidy and polyploidy
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Q92.8
Billable
Other specified trisomies and partial trisomies of autosomes
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Q92.9
Billable
Trisomy and partial trisomy of autosomes, unspecified
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Q93
Monosomies and deletions from the autosomes, not elsewhere classified
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Q93.0
Billable
Whole chromosome monosomy, nonmosaicism (meiotic nondisjunction)
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Q93.1
Billable
Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
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Q93.2
Billable
Chromosome replaced with ring, dicentric or isochromosome
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Q93.3
Billable
Deletion of short arm of chromosome 4
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Q93.4
Billable
Deletion of short arm of chromosome 5
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Q93.5
Other deletions of part of a chromosome
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Q93.51
Billable
Angelman syndrome
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Q93.52
Billable
Phelan-McDermid syndrome
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Q93.59
Billable
Other deletions of part of a chromosome
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Q93.7
Billable
Deletions with other complex rearrangements
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Q93.8
Other deletions from the autosomes
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Q93.81
Billable
Velo-cardio-facial syndrome
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Q93.82
Billable
Williams syndrome
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Q93.88
Billable
Other microdeletions
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Q93.89
Billable
Other deletions from the autosomes
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Q93.9
Billable
Deletion from autosomes, unspecified
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Q95
Balanced rearrangements and structural markers, not elsewhere classified
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Q95.0
Billable
Balanced translocation and insertion in normal individual
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Q95.1
Billable
Chromosome inversion in normal individual
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Q95.2
Billable
Balanced autosomal rearrangement in abnormal individual
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Q95.3
Billable
Balanced sex/autosomal rearrangement in abnormal individual
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Q95.5
Billable
Individual with autosomal fragile site
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Q95.8
Billable
Other balanced rearrangements and structural markers
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Q95.9
Billable
Balanced rearrangement and structural marker, unspecified
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Q96
Turner's syndrome
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Q96.0
Billable
Karyotype 45, X
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Q96.1
Billable
Karyotype 46, X iso (Xq)
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Q96.2
Billable
Karyotype 46, X with abnormal sex chromosome, except iso (Xq)
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Q96.3
Billable
Mosaicism, 45, X/46, XX or XY
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Q96.4
Billable
Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome
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Q96.8
Billable
Other variants of Turner's syndrome
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Q96.9
Billable
Turner's syndrome, unspecified
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Q97
Other sex chromosome abnormalities, female phenotype, not elsewhere classified
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Q97.0
Billable
Karyotype 47, XXX
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Q97.1
Billable
Female with more than three X chromosomes
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Q97.2
Billable
Mosaicism, lines with various numbers of X chromosomes
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Q97.3
Billable
Female with 46, XY karyotype
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Q97.8
Billable
Other specified sex chromosome abnormalities, female phenotype
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Q97.9
Billable
Sex chromosome abnormality, female phenotype, unspecified
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Q98
Other sex chromosome abnormalities, male phenotype, not elsewhere classified
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Q98.0
Billable
Klinefelter syndrome karyotype 47, XXY
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Q98.1
Billable
Klinefelter syndrome, male with more than two X chromosomes
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Q98.3
Billable
Other male with 46, XX karyotype
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Q98.4
Billable
Klinefelter syndrome, unspecified
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Q98.5
Billable
Karyotype 47, XYY
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Q98.6
Billable
Male with structurally abnormal sex chromosome
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Q98.7
Billable
Male with sex chromosome mosaicism
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Q98.8
Billable
Other specified sex chromosome abnormalities, male phenotype
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Q98.9
Billable
Sex chromosome abnormality, male phenotype, unspecified
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Q99
Other chromosome abnormalities, not elsewhere classified
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Q99.0
Billable
Chimera 46, XX/46, XY
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Q99.1
Billable
46, XX true hermaphrodite
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Q99.2
Billable
Fragile X chromosome
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Q99.8
Billable
Other specified chromosome abnormalities
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Q99.9
Billable
Chromosomal abnormality, unspecified
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Updates & Changes

FY 2026 Updates

Current Year

New Codes (1)

Q23.4
Hypoplastic left heart syndrome with mitral atresia

Revised Codes (1)

Q21.0
Ventricular septal defect - updated to include hemodynamic significance when known

Deleted Codes

No codes deleted in this range for FY 2026

Historical Changes

  • •FY 2025: Routine maintenance updates with minor terminology clarifications
  • •FY 2024: Enhanced specificity requirements for certain code ranges
  • •FY 2023: Updated documentation guidelines for improved clarity

Upcoming Changes

  • •Proposed updates pending review by Coordination and Maintenance Committee
  • •Under consideration: Enhanced digital health integration codes

Implementation Guidance

  • •Review all FY 2026 updates for Q90-Q99 codes before implementation
  • •Always verify the most current codes in the ICD-10-CM manual
  • •Ensure clinical documentation supports the selected diagnosis codes
  • +3 more guidance items...

Range Overview

high priority

The ICD-10 code range Q90-Q99 is dedicated to chromosomal abnormalities that are not classified elsewhere. These codes cover a broad spectrum of genetic disorders, from Down syndrome (Q90) to other chromosomal abnormalities, not elsewhere classified (Q99). These codes are used to document diagnoses related to chromosomal abnormalities, which can manifest as various physical and cognitive impairments, and are often identified through genetic testing.

Key Usage Points:

  • •Always code the manifestation of the chromosomal abnormality, if known and applicable.
  • •Use additional codes to identify any associated physical or mental disabilities.
  • •For congenital malformations, deformations, and chromosomal abnormalities, use codes from Chapter 17 (Q00-Q99).
  • •If the patient has a well-documented chromosomal abnormality but no specific manifestations, code the abnormality itself.
  • •Always verify the code in the Tabular List before assigning it.

Coding Guidelines

When to Use:

  • ✓When a patient has a confirmed diagnosis of a chromosomal abnormality.
  • ✓When a patient presents with symptoms or conditions typically associated with a chromosomal abnormality.
  • ✓When a patient has undergone genetic testing that confirms a chromosomal abnormality.
  • ✓When a patient's family history includes chromosomal abnormalities.

When NOT to Use:

  • ✗When the patient's condition is due to an acquired genetic mutation, not a chromosomal abnormality.
  • ✗When the patient's condition is better represented by another code.
  • ✗When the patient's chromosomal abnormality is not confirmed by genetic testing or clinical diagnosis.
  • ✗When the patient's condition is due to an environmental factor, not a chromosomal abnormality.

Code Exclusions

Always verify exclusions in the Tabular List before assigning a code.

Documentation Requirements

Documentation for chromosomal abnormalities should be thorough and precise, including specific diagnoses, manifestations, and results of genetic testing. It should also include the patient's history and any associated conditions.

Clinical Information:

  • •Specific diagnosis of the chromosomal abnormality
  • •Results of genetic testing
  • •Manifestations of the chromosomal abnormality
  • •Patient's history and associated conditions
  • •Any physical or mental disabilities associated with the abnormality

Supporting Evidence:

  • •Genetic test results
  • •Clinical notes
  • •Imaging studies
  • •Laboratory test results
Good Documentation Example:

Patient diagnosed with Down syndrome (Q90.9) with moderate intellectual disabilities (F71). Genetic testing confirmed trisomy 21.

Poor Documentation Example:

Patient has Down syndrome.

Common Documentation Errors:

  • âš Not specifying the type of chromosomal abnormality
  • âš Not documenting associated conditions or disabilities
  • âš Not including results of genetic testing
  • âš Not verifying the code in the Tabular List

Range Statistics

9
Total Codes
67
Billable
Complexity:
Medium
Primary Use:Clinical Documentation
Chapter:17

Coding Complexity

Medium
Complexity Rating

Coding for chromosomal abnormalities requires a solid understanding of genetics and the ability to interpret complex genetic test results. It also requires familiarity with the ICD-10 coding system and the ability to accurately code associated conditions and manifestations.

Key Factors:
  • â–¸Knowledge of genetics and chromosomal abnormalities
  • â–¸Understanding of associated conditions and manifestations
  • â–¸Ability to interpret genetic test results
  • â–¸Familiarity with the ICD-10 coding system and guidelines

Specialty Focus

These codes are primarily used by geneticists, pediatricians, and other specialists who diagnose and treat chromosomal abnormalities.

Primary Specialties:
Genetics
40%
Pediatrics
30%
Obstetrics and Gynecology
20%
Clinical Scenarios:
  • • A newborn diagnosed with Down syndrome and associated heart defects.
  • • A pregnant woman undergoing prenatal testing that reveals a chromosomal abnormality in the fetus.
  • • A child with developmental delays diagnosed with a chromosomal abnormality.
  • • An adult with a family history of chromosomal abnormalities undergoing genetic testing.

Resources & References

Several resources are available for coding chromosomal abnormalities, including the ICD-10 coding manual, official coding guidelines, and clinical reference materials.

Official Guidelines:

  • ICD-10-CM Official Guidelines for Coding and Reporting
  • American Health Information Management Association (AHIMA) Coding Guidelines
  • Centers for Disease Control and Prevention (CDC) ICD-10 Resources

Clinical References:

  • Genetics Home Reference
  • National Human Genome Research Institute (NHGRI)

Educational Materials:

  • AHIMA ICD-10 Training Materials
  • CDC ICD-10 Training Webinars

Frequently Asked Questions

How do I code for a chromosomal abnormality with multiple manifestations?

Use a code for the chromosomal abnormality, and additional codes for each manifestation, if applicable. Always verify the codes in the Tabular List.