Version 2024

2024 ICD-10-CM Diagnosis Code Q96

Turner's syndrome

ICD-10-CM Code:
Q96
ICD-10 Code for:
Turner's syndrome
Is Billable?
Not Valid for Submission
Code Navigator:

Code Classification

  • Congenital malformations, deformations and chromosomal abnormalities
    (Q00-Q99)
    • Chromosomal abnormalities, not elsewhere classified
      (Q90-Q99)
      • Turner's syndrome
        (Q96)

Q96 is a non-specific and non-billable diagnosis code code, consider using a code with a higher level of specificity for a diagnosis of turner's syndrome. The code is not specific and is NOT valid for the year 2024 for the submission of HIPAA-covered transactions. Category or Header define the heading of a category of codes that may be further subdivided by the use of 4th, 5th, 6th or 7th characters.

Specific Coding Applicable to Turner's syndrome

Non-specific codes like Q96 require more digits to indicate the appropriate level of specificity. Consider using any of the following ICD-10-CM codes with a higher level of specificity when coding for turner's syndrome:

  • Use Q96.0 for Karyotype 45, X - BILLABLE CODE

  • Use Q96.1 for Karyotype 46, X iso (Xq) - BILLABLE CODE

  • Use Q96.2 for Karyotype 46, X with abnormal sex chromosome, except iso (Xq) - BILLABLE CODE

  • Use Q96.3 for Mosaicism, 45, X/46, XX or XY - BILLABLE CODE

  • Use Q96.4 for Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome - BILLABLE CODE

  • Use Q96.8 for Other variants of Turner's syndrome - BILLABLE CODE

  • Use Q96.9 for Turner's syndrome, unspecified - BILLABLE CODE

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.


Type 1 Excludes

Type 1 Excludes
A type 1 excludes note is a pure excludes note. It means "NOT CODED HERE!" An Excludes1 note indicates that the code excluded should never be used at the same time as the code above the Excludes1 note. An Excludes1 is used when two conditions cannot occur together, such as a congenital form versus an acquired form of the same condition.

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.