Q97.3 - Female with 46, XY karyotype
| ICD-10: | Q97.3 |
| Short Description: | Female with 46, XY karyotype |
| Long Description: | Female with 46, XY karyotype |
| Status: | Valid for Submission |
| Version: | ICD-10-CM 2023 |
| Code Classification: |
Q97.3 is a billable ICD-10 code used to specify a medical diagnosis of female with 46, xy karyotype. 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:
- 46,XY disorder of sex development
- 46,XY disorder of sex development
- 46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency
- 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome
- 46,XY ovotesticular disorder of sex development
- Mixed sensory-motor polyneuropathy
- Motor polyneuropathy
- Sensory polyneuropathy
- Sex phenotype-karyotype dissociation syndrome
- XY females
- XY, female phenotype
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:
- 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)
Q97.3 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 Code | POA Reason for Code | CMS will pay the CC/MCC DRG? |
|---|---|---|
| Y | Diagnosis was present at time of inpatient admission. | YES |
| N | Diagnosis was not present at time of inpatient admission. | NO |
| U | Documentation insufficient to determine if the condition was present at the time of inpatient admission. | NO |
| W | Clinically undetermined - unable to clinically determine whether the condition was present at the time of inpatient admission. | YES |
| 1 | Unreported/Not used - Exempt from POA reporting. | NO |
Convert to ICD-9 Code
| Source ICD-10 Code | Target ICD-9 Code | |
|---|---|---|
| Q97.3 | 758.81 - Oth cond due to sex chrm | |
| 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
Genetic Disorders
Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs.
Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene's instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder.
You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime.
There are three types of genetic disorders:
- Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an example.
- Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed. Chromosomes are the structures that hold our genes. Down syndrome is a chromosomal disorder.
- Complex disorders, where there are mutations in two or more genes. Often your lifestyle and environment also play a role. Colon cancer is an example.
Genetic tests on blood and other tissue can identify genetic disorders.
NIH: National Library of Medicine
[Learn More in MedlinePlus]
Swyer syndrome
Swyer syndrome is a condition that affects sex development. Sex development usually follows a particular path based on an individual's chromosomes; however, in Swyer syndrome, sex development is not typical for the affected individual's chromosomal pattern.
Chromosomes contain the genetic instructions for how the body develops and functions. People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female reproductive structures. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men typically have one X chromosome and one Y chromosome (46,XY karyotype). In Swyer syndrome, individuals have one X chromosome and one Y chromosome in each cell, which is the pattern typically found in boys and men; however, they have female reproductive structures.
People with Swyer syndrome have female external genitalia and some female internal reproductive structures. These individuals usually have a uterus and fallopian tubes, but their gonads (ovaries or testes) are not functional. Instead, the gonads are small and underdeveloped and contain little gonadal tissue. These structures are called streak gonads. The streak gonadal tissue is at risk of developing cancer that is often hard-to-detect, so it is usually removed surgically. Swyer syndrome is also called 46,XY complete gonadal dysgenesis; the medical term “dysgenesis” means "abnormal development."
Because they appear female on the outside, babies with Swyer syndrome are usually raised as girls and develop a female gender identity, which is a person's sense of their gender (girl, boy, a combination, or neither). Swyer syndrome may be identified before birth, at birth, or later when a child does not go through puberty as usual. Because they do not have functional ovaries that produce hormones, affected individuals often begin hormone replacement therapy during early adolescence to start puberty, causing the breasts and uterus to grow, and eventually leading to menstruation. Hormone replacement therapy is also important for bone health and helps reduce the risk of low bone density (osteopenia) and fragile bones (osteoporosis). Women with Swyer syndrome do not produce eggs (ova), but if they have a uterus, they may be able to become pregnant with a donated egg or embryo.
[Learn More in MedlinePlus]
Code History
- 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 (First year ICD-10-CM implemented into the HIPAA code set)
