Q96.4 - Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome

Version 2023
ICD-10:Q96.4
Short Description:Mosaic, 45, X/other cell line(s) w abnormal sex chromosome
Long Description:Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome
Status: Valid for Submission
Version:ICD-10-CM 2023
Code Classification:
  • Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
    • Chromosomal abnormalities, not elsewhere classified (Q90-Q99)
      • Turner's syndrome (Q96)

Q96.4 is a billable ICD-10 code used to specify a medical diagnosis of mosaicism, 45, x/other cell line(s) with abnormal sex chromosome. The code is valid during the fiscal year 2023 from October 01, 2022 through September 30, 2023 for the submission of HIPAA-covered transactions. 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:

Index to Diseases and Injuries References

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

Code Edits

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

Present on Admission (POA)

Q96.4 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 Indicator CodePOA Reason 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 to ICD-9 Code

Source ICD-10 CodeTarget ICD-9 Code
Q96.4758.6 - 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

Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X chromosome. Girls who have it are short, and their ovaries don't work properly.

Other physical features typical of Turner syndrome are:

Most women with Turner syndrome are infertile. They are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis, and thyroid problems.

Doctors diagnose Turner syndrome based on symptoms and a genetic test. Sometimes it is found in prenatal testing. There is no cure for Turner syndrome, but there are some treatments for the symptoms. Growth hormone often helps girls reach heights that are close to average. Hormone replacement can help start sexual development. Assisted reproduction techniques can help some women with Turner syndrome get pregnant.

NIH: National Institute of Child Health and Human Development


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Turner syndrome

Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common. The ovaries develop normally at first, but egg cells (oocytes) usually die prematurely and most ovarian tissue degenerates before birth. Many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive (infertile). A small percentage of females with Turner syndrome retain normal ovarian function through young adulthood.

About 30 percent of females 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 leaving the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta with the heart (the aortic valve). Complications associated with these heart defects can be life-threatening.

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


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Code History