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    v1.0.28
    OpenPayerBilling CodesChromosomal abnormalities, not elsewhere classifiedICD-10-CM q97-other-sex-chromosome-abnormalities-female-phenotype
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    ICD-10-CM Code For Other Sex Chromosome Abnormalities Female Phenotype Not Elsewhere Classified: Group Overview

    The International Classification of Diseases, Tenth Revision, Clinical Modification (ICD-10-CM) code group Q97 includes congenital sex chromosome abnormalities in individuals with a female phenotype that are not classified elsewhere, such as mosaicisms and structural abnormalities involving X and Y chromosomes. These ICD-10-CM diagnosis codes are used to document chromosomal conditions that affect development, reproductive anatomy, and associated clinical complications, capturing disease severity and clinical complexity. Accurate coding within the ICD-10-CM Q97 group supports proper claim adjudication, complete clinical documentation, and appropriate reimbursement.

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    ICD-10-CM Q97: Other Sex Chromosome Abnormalities, Female Phenotype, Not Elsewhere Classified Overview

    This code group represents congenital sex chromosome anomalies in individuals with a female phenotype that are not classified elsewhere. It targets chromosomal disorders affecting development and reproductive systems and may have multisystem implications. Accurate coding matters for appropriate claim processing and reimbursement because it ensures the clinical complexity and resource use are documented.

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    When to Use

    Use a code from this group when a confirmed chromosomal abnormality involving sex chromosomes is identified in a patient with a female phenotype and no more specific ICD-10-CM code applies. Assign these codes to reflect the clinical diagnosis when documenting genetic testing results, phenotypic findings, and related care needs.

    ICD-10-CM Codes

    6 rows

    ICD-10-CM CodeDescription
    Q97.0Karyotype 47, XXX
    Q97.1Female with more than three X chromosomes
    Q97.2Mosaicism, lines with various numbers of X chromosomes
    Q97.3Female with 46, XY karyotype
    Q97.8Other specified sex chromosome abnormalities, female phenotype
    Q97.9Sex chromosome abnormality, female phenotype, unspecified

    DRG Codes

    4 rows

    DRG CodeDescription
    742Uterine and Adnexa Procedures for Non-Malignancy with CC/MCC
    743Uterine and Adnexa Procedures for Non-Malignancy without CC/MCC
    760Menstrual and Other Female Reproductive System Disorders with CC/MCC
    761Menstrual and Other Female Reproductive System Disorders without CC/MCC

    Typical Clinical Scenarios

    • A newborn delivered at term is noted on physical exam to have ambiguous external genitalia with predominantly female phenotype features and mild clitoromegaly; prenatal screening was not definitive, and chromosomal analysis (karyotype and microarray) is performed to clarify sex chromosome complement and guide endocrine evaluation. A diagnosis from this group is assigned when sex chromosome analysis reveals an atypical mosaic or structural abnormality involving sex chromosomes in a patient with a female phenotype. Typical codes: Q97.2, Q97.3
    • A teenage female presents to adolescent medicine with short stature, primary amenorrhea, and sparse secondary sexual development; prior pediatric records suggest a diagnosis of a sex chromosome abnormality identified in childhood but without further specification in the problem list. Further workup and counseling are sought for pubertal induction and fertility implications, and a code from this group is used to document the underlying chromosomal etiology contributing to the chronic endocrine and developmental concerns. Typical codes: Q97.1, Q97.9
    • An adult female undergoing preconception counseling is found incidentally on genetic testing to have a mosaic sex chromosome abnormality (different cell lines) after recurrent early pregnancy losses; she presents to maternal-fetal medicine for risk assessment and management planning for future pregnancies. A diagnosis from this group is assigned to capture the chromosomal abnormality as a comorbidity influencing reproductive risk and need for targeted prenatal surveillance. Typical codes: Q97.0, Q97.8

    Related Codes

    Q90-DOWN-SYNDROME

    ICD-10-CM Code For Down Syndrome: Group Overview

    Q91-TRISOMY-18-AND-TRISOMY-13

    ICD-10-CM Code For Trisomy 18 And Trisomy 13: Group Overview

    Q92-OTHER-TRISOMIES-AND-PARTIAL-TRISOMIES

    ICD-10-CM Code For Other Trisomies And Partial Trisomies Of The Autosomes Not Elsewhere Classified: Group Overview

    Q93-MONOSOMIES-AND-DELETIONS

    ICD-10-CM Code For Monosomies And Deletions From The Autosomes Not Elsewhere Classified: Group Overview

    Q95-BALANCED-REARRANGEMENTS-AND-STRUCTURAL-MARKERS

    ICD-10-CM Code For Balanced Rearrangements And Structural Markers Not Elsewhere Classified: Group Overview

    Q96-TURNERS-SYNDROME

    ICD-10-CM Code For Turner's Syndrome: Group Overview

    Q98-OTHER-SEX-CHROMOSOME-ABNORMALITIES-MALE-PHENOTYPE

    ICD-10-CM Code For Other Sex Chromosome Abnormalities Male Phenotype Not Elsewhere Classified: Group Overview

    Q99-OTHER-CHROMOSOME-ABNORMALITIES-NOT-ELSEWHERE-CLASSIFIED

    ICD-10-CM Code For Other Chromosome Abnormalities, Not Elsewhere Classified: Group Overview

    Frequently Asked Questions

    References

    1. 1.CPT® Codes and Descriptions. AAPC. Retrieved Aug 11, 2026.Maintains the CPT code set's official descriptions and guidelines, licensed from the American Medical Association, used as the definitional source for CPT codes on this page.
    2. 2.HCPCS Quarterly Update. Centers for Medicare & Medicaid Services (CMS). Retrieved Aug 11, 2026.CMS's quarterly release of HCPCS Level II codes and short/long descriptors, the source for HCPCS code definitions and update history.
    3. 3.ICD-10-CM Full Code List. Centers for Medicare & Medicaid Services (CMS). Retrieved Aug 11, 2026.CMS's complete ICD-10-CM diagnosis code list, used to cross-reference diagnosis codes associated with this procedure or service.
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