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    v1.0.28
    OpenPayerBilling CodesChromosomal abnormalities, not elsewhere classifiedICD-10-CM q96-turners-syndrome
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    ICD-10-CM Code For Turner's Syndrome: Group Overview

    The International Classification of Diseases, Tenth Revision, Clinical Modification (ICD-10-CM) code group Q96 includes diagnoses for Turner's syndrome and its chromosomal variants, covering monosomy X and related karyotype abnormalities that affect growth, gonadal development, and multisystem complications. These ICD-10-CM diagnosis codes are used to document clinical encounters where genetic testing, endocrine dysfunction, cardiac anomalies, or developmental concerns related to Turner's syndrome are evaluated and managed, capturing disease severity and organ system involvement. Accurate coding within the ICD-10-CM Q96 group supports complete clinical documentation and appropriate reimbursement.

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    ICD-10-CM Q96: Turner's Syndrome Overview

    The ICD-10-CM Q96 code group represents congenital chromosomal abnormalities specifically associated with Turner's syndrome, a condition resulting from partial or complete monosomy X. These diagnoses target genetic and developmental disorders affecting growth, reproductive organs, and multiple organ systems. Accurate coding is important to reflect the complexity of care and support appropriate reimbursement for services related to genetic, endocrine, and cardiovascular management.

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    When to Use

    Use a code from this group when Turner's syndrome is confirmed by chromosomal analysis or when clinical documentation specifies Turner's syndrome as the diagnosis. These codes apply to encounters for evaluation, management, or treatment of growth issues, ovarian insufficiency, congenital cardiac defects, or other complications attributable to Turner's syndrome.

    ICD-10-CM Codes

    7 rows

    ICD-10-CM CodeDescription
    Q96.0Karyotype 45, X
    Q96.1Karyotype 46, X iso (Xq)
    Q96.2Karyotype 46, X with abnormal sex chromosome, except iso (Xq)
    Q96.3Mosaicism, 45, X/46, XX or XY
    Q96.4Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome
    Q96.8Other variants of Turner's syndrome
    Q96.9Turner's syndrome, 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 female is evaluated in the neonatal unit for lymphedema of the hands and feet, a webbed neck, and aortic coarctation detected on newborn exam and echocardiography. Genetic testing confirms monosomy X consistent with the congenital chromosomal abnormality; the diagnosis is assigned to capture the underlying chromosomal condition present at birth. Typical codes: Q96.0, Q96.9
    • An adolescent girl presents to pediatric endocrinology for short stature and delayed puberty; karyotype and clinical features (streak ovaries, lack of secondary sexual development) confirm the chromosomal disorder causing ovarian insufficiency. The diagnosis from this group is used to document the underlying cause of her endocrine and growth concerns and guide long-term surveillance. Typical codes: Q96.1, Q96.3
    • An adult woman with known mosaic form of the chromosomal abnormality is seen in cardiology for new hypertension and evaluation of an aortic aneurysm; her past medical history includes infertility and recurrent ear infections related to the chromosomal condition. The diagnosis is recorded as a comorbidity influencing cardiovascular risk assessment and management decisions. Typical codes: Q96.2, Q96.8

    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

    Q97-OTHER-SEX-CHROMOSOME-ABNORMALITIES-FEMALE-PHENOTYPE

    ICD-10-CM Code For Other Sex Chromosome Abnormalities Female Phenotype Not Elsewhere Classified: 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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