2024 ICD-10-CM Diagnosis Code Q96.2

Karyotype 46, X with abnormal sex chromosome, except iso (Xq)

ICD-10-CM Code:
Short Description:
Karyotype 46, X w abnormal sex chromosome, except iso (Xq)
Is Billable?
Yes - Valid for Submission
Chronic Condition Indicator: [1]
Code Navigator:

Code Classification

  • Congenital malformations, deformations and chromosomal abnormalities
    • Chromosomal abnormalities, not elsewhere classified
      • Turner's syndrome

Q96.2 is a billable diagnosis code used to specify a medical diagnosis of karyotype 46, x with abnormal sex chromosome, except iso (xq). The code is valid during the current fiscal year for the submission of HIPAA-covered transactions from October 01, 2023 through September 30, 2024. The code is exempt from present on admission (POA) reporting for inpatient admissions to general acute care hospitals.

This code is applicable to female patients only. It is clinically and virtually impossible to use this code on a non-female patient.

Approximate Synonyms

The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:

  • Karyotype 46, X with abnormal sex chromosome except iso
  • Turner syndrome

Clinical Classification

Clinical Information

  • Noonan Syndrome

    a genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, cryptorchidism, multiple cardiac abnormalities (most commonly including pulmonary valve stenosis), and some degree of intellectual disability. the phenotype bears similarities to that of turner syndrome that occurs only in females and has its basis in a 45, x karyotype abnormality. noonan syndrome occurs in both males and females with a normal karyotype (46,xx and 46,xy). mutations in a several genes (ptpn11, kras, sos1, nf1 and raf1) have been associated the ns phenotype. mutations in ptpn11 are the most common. leopard syndrome, a disorder that has clinical features overlapping those of noonan syndrome, is also due to mutations in ptpn11. in addition, there is overlap with the syndrome called neurofibromatosis-noonan syndrome due to mutations in nf1.
  • Turner Syndrome

    a syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,x (or 45,xo). patients generally are of short stature with undifferentiated gonads (streak gonads), sexual infantilism, hypogonadism, webbing of the neck, cubitus valgus, elevated gonadotropins, decreased estradiol level in blood, and congenital heart defects. noonan syndrome (also called pseudo-turner syndrome and male turner syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.

Tabular List of Diseases and Injuries

The following annotation back-references are applicable to this diagnosis code. The Tabular List of Diseases and Injuries is a list of ICD-10-CM codes, organized "head to toe" into chapters and sections with coding notes and guidance for inclusions, exclusions, descriptions and more.

Inclusion Terms

Inclusion Terms
These terms are the conditions for which that code is to be used. The terms may be synonyms of the code title, or, in the case of "other specified" codes, the terms are a list of the various conditions assigned to that code. The inclusion terms are not necessarily exhaustive. Additional terms found only in the Alphabetic Index may also be assigned to a code.
  • Karyotype 46, X with abnormal sex chromosome, except isochromosome Xq

Index to Diseases and Injuries References

The following annotation back-references for this diagnosis code are found in the injuries and diseases index. The Index to Diseases and Injuries is an alphabetical listing of medical terms, with each term mapped to one or more ICD-10-CM code(s).

Code Edits

The Medicare Code Editor (MCE) detects and reports errors in the coding of claims data. The following ICD-10-CM Code Edits are applicable to this code:

  • Diagnoses for females only - The Medicare Code Editor detects inconsistencies between a patient’s sex and any diagnosis on the patient’s record, these edits apply to FEMALES only .

Present on Admission (POA)

Q96.2 is exempt from POA reporting - The Present on Admission (POA) indicator is used for diagnosis codes included in claims involving inpatient admissions to general acute care hospitals. POA indicators must be reported to CMS on each claim to facilitate the grouping of diagnoses codes into the proper Diagnostic Related Groups (DRG). CMS publishes a listing of specific diagnosis codes that are exempt from the POA reporting requirement. Review other POA exempt codes here.

CMS POA Indicator Options and Definitions

POA IndicatorReason for CodeCMS will pay the CC/MCC DRG?
YDiagnosis was present at time of inpatient admission.YES
NDiagnosis was not present at time of inpatient admission.NO
UDocumentation insufficient to determine if the condition was present at the time of inpatient admission.NO
WClinically undetermined - unable to clinically determine whether the condition was present at the time of inpatient admission.YES
1Unreported/Not used - Exempt from POA reporting. NO

Convert Q96.2 to ICD-9-CM

  • ICD-9-CM Code: 758.6 - Gonadal dysgenesis
    Approximate Flag - The approximate mapping means there is not an exact match between the ICD-10 and ICD-9 codes and the mapped code is not a precise representation of the original code.

Patient Education

Turner Syndrome

What is Turner syndrome?

Turner syndrome is a genetic disorder that affects a girl's development and appearance. It can also cause health problems such as infertility and heart problems.

What causes Turner syndrome?

Turner syndrome happens because of a problem with a chromosome. Chromosomes are tiny "packages" in your cells that contain your genes. Genes carry information, called DNA, that controls what you look like and how your body works. Normally, girls receive one X chromosome from each parent. Turner syndrome happens when one of the X chromosomes is partially or completely missing.

What are the symptoms of Turner syndrome?

Turner syndrome can cause many different symptoms. The symptoms may be mild for some people. But for others, Turner syndrome can cause serious health problems.

Some of the symptoms of Turner syndrome affect a person's appearance. Most people with Turner syndrome are shorter than average. They may also have physical features such as:

  • A neck that is short and has extra skin (a "webbed" neck)
  • A low hairline in the back
  • Low-set ears
  • Swollen hands and feet

People with Turner syndrome may be born with heart and kidney defects. They usually don't have typical sexual development and are infertile. They are also at risk for other health problems such as high blood pressure, type 2 diabetes, osteoporosis, and thyroid problems.

How is Turner syndrome diagnosed?

Health care providers diagnose Turner syndrome based on symptoms and a genetic blood test called a karyotype test. Sometimes it is found in prenatal testing.

What are the treatments for Turner syndrome?

There is no cure for Turner syndrome, but there are treatments for some of the symptoms:

  • If they are started in early childhood, hormone injections can often increase adult height by a few inches
  • Estrogen replacement therapy (ERT) can help start sexual development. It also protects against bone loss
  • Assisted reproduction technologies can help some women with Turner syndrome get pregnant

People who have Turner syndrome need regular health checks. It's also important for them to have a care team that includes specialists who can treat the health problems caused by Turner syndrome.

NIH: National Institute of Child Health and Human Development

[Learn More in MedlinePlus]

Turner syndrome

Turner syndrome is a chromosomal condition that affects development in people who are assigned female at birth. Females typically have two X chromosomes, but in individuals with Turner syndrome, one copy of the X chromosome is missing or altered.

The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. Reduced functioning of the ovaries, the female reproductive organs that produce egg cells (oocytes) and female sex hormones, is also very common. The ovaries develop normally at first, but egg cells usually die prematurely and most ovarian tissue breaks down before birth. 

Many affected individuals do not undergo puberty unless they receive hormone therapy, and most are unable to become pregnant naturally. A small percentage of people with Turner syndrome retain normal ovarian function through young adulthood.

About 30 percent of individuals with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems. One-third to one-half of individuals with Turner syndrome are born with a heart defect, such as a narrowing of the large artery that leaves the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta to the heart (the aortic valve). Complications associated with these heart defects can be life-threatening.

Most people with Turner syndrome have normal intelligence. Developmental delays, nonverbal learning disabilities, and behavioral problems are possible, although these characteristics vary among affected individuals.

[Learn More in MedlinePlus]

Code History

  • FY 2024 - No Change, effective from 10/1/2023 through 9/30/2024
  • FY 2023 - No Change, effective from 10/1/2022 through 9/30/2023
  • FY 2022 - No Change, effective from 10/1/2021 through 9/30/2022
  • FY 2021 - No Change, effective from 10/1/2020 through 9/30/2021
  • FY 2020 - No Change, effective from 10/1/2019 through 9/30/2020
  • FY 2019 - No Change, effective from 10/1/2018 through 9/30/2019
  • FY 2018 - No Change, effective from 10/1/2017 through 9/30/2018
  • FY 2017 - No Change, effective from 10/1/2016 through 9/30/2017
  • FY 2016 - New Code, effective from 10/1/2015 through 9/30/2016. This was the first year ICD-10-CM was implemented into the HIPAA code set.


[1] Chronic - a chronic condition code indicates a condition lasting 12 months or longer and its effect on the patient based on one or both of the following criteria:

  • The condition results in the need for ongoing intervention with medical products,treatment, services, and special equipment
  • The condition places limitations on self-care, independent living, and social interactions.