Q98.4 - Klinefelter syndrome, unspecified

Version 2023

ICD-10:	Q98.4
Short Description:	Klinefelter syndrome, unspecified
Long Description:	Klinefelter syndrome, unspecified
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) Oth sex chromosome abnormalities, male phenotype, NEC (Q98)

1. Approximate Synonyms
2. Clinical Information
3. Tabular List of Diseases and Injuries
4. Index to Diseases and Injuries References
5. Code Edits
6. Diagnostic Related Groups - MS-DRG Mapping
7. Present on Admission (POA)
8. Convert to ICD-9 Code
9. Patient Education
10. Related Codes Browser
11. Code History

Q98.4 is a billable ICD-10 code used to specify a medical diagnosis of klinefelter syndrome, unspecified. 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 male patients only. It is clinically and virtually impossible to use this code on a non-male patient.

Unspecified diagnosis codes like Q98.4 are acceptable when clinical information is unknown or not available about a particular condition. Although a more specific code is preferable, unspecified codes should be used when such codes most accurately reflect what is known about a patient's condition. Specific diagnosis codes should not be used if not supported by the patient's medical record.

Approximate Synonyms

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

Klinefelter syndrome

Clinical Information

Klinefelter Syndrome-. a form of male hypogonadism, characterized by the presence of an extra x chromosome, small testes, seminiferous tubule dysgenesis, elevated levels of gonadotropins, low serum testosterone, underdeveloped secondary sex characteristics, and male infertility (infertility, male). patients tend to have long legs and a slim, tall stature. gynecomastia is present in many of the patients. the classic form has the karyotype 47,xxy. several karyotype variants include 48,xxyy; 48,xxxy; 49,xxxxy, and mosaic patterns ( 46,xy/47,xxy; 47,xxy/48,xxxy, etc.).

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:

- Anomaly, anomalous (congenital) (unspecified type) - Q89.9
- - chromosomes, chromosomal - Q99.9
  - - sex
    - - Klinefelter's - Q98.4

- Klinefelter's syndrome - Q98.4

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 males only - The Medicare Code Editor detects inconsistencies between a patient’s sex and any diagnosis on the patient’s record, these edits apply to MALES only .

Diagnostic Related Groups - MS-DRG Mapping

The is diagnosis code is grouped in the following groups for version MS-DRG V40.0 What are Diagnostic Related Groups?
The Diagnostic Related Groups (DRGs) are a patient classification scheme which provides a means of relating the type of patients a hospital treats. The DRGs divides all possible principal diagnoses into mutually exclusive principal diagnosis areas referred to as Major Diagnostic Categories (MDC). applicable from 10/01/2022 through 09/30/2023.

MS-DRG	MS-DRG Title	MCD	Relative Weight
729	OTHER MALE REPRODUCTIVE SYSTEM DIAGNOSES WITH CC/MCC	12	1.0778
730	OTHER MALE REPRODUCTIVE SYSTEM DIAGNOSES WITHOUT CC/MCC	12	0.6558

The relative weight of a diagnostic related group determines the reimbursement rate based on the severity of a patient's illness and the associated cost of care during hospitalization.

Present on Admission (POA)

Q98.4 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 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
Q98.4		758.7 - Klinefelter's syndrome
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

Klinefelter Syndrome

Klinefelter syndrome (KS) is a condition that occurs in men who have an extra X chromosome. The syndrome can affect different stages of physical, language, and social development.

The most common symptom is infertility. Boys may be taller than other boys their age, with more fat around the belly. After puberty, KS boys may have:

Smaller testes and penis
Breast growth
Less facial and body hair
Reduced muscle tone
Narrower shoulders and wider hips
Weaker bones
Decreased sexual interest
Lower energy

KS males may have learning or language problems. They may be quiet and shy and have trouble fitting in.

A genetic test can diagnose KS. There is no cure, but treatments are available. It is important to start treatment as early as possible. With treatment, most boys grow up to have normal lives.

Treatments include testosterone replacement therapy and breast reduction surgery. If needed, physical, speech, language, and occupational therapy may also help.

NIH: National Institute of Child Health and Human Development

[Learn More in MedlinePlus]

Klinefelter syndrome

Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Most commonly, affected individuals are taller than average are unable to father biological children (infertile); however the signs and symptoms of Klinefelter syndrome vary among boys and men with this condition. In some cases, the features of the condition are so mild that the condition is not diagnosed until puberty or adulthood, and researchers believe that up to 75 percent of affected men and boys are never diagnosed.

Boys and men with Klinefelter syndrome typically have small testes that produce a reduced amount of testosterone (primary testicular insufficiency). Testosterone is the hormone that directs male sexual development before birth and during puberty. Without treatment, the shortage of testosterone can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), decreased muscle mass, decreased bone density, and a reduced amount of facial and body hair. As a result of the small testes and decreased hormone production, affected males are infertile but may benefit from assisted reproductive technologies. Some affected individuals also have differences in their genitalia, including undescended testes (cryptorchidism), the opening of the urethra on the underside of the penis (hypospadias), or an unusually small penis (micropenis).

Other physical changes associated with Klinefelter syndrome are usually subtle. Older children and adults with the condition tend to be somewhat taller than their peers. Other differences can include abnormal fusion of certain bones in the forearm (radioulnar synostosis), curved pinky fingers (fifth finger clinodactyly), and flat feet (pes planus).

Children with Klinefelter syndrome may have low muscle tone (hypotonia) and problems with coordination that may delay the development of motor skills, such as sitting, standing, and walking. Affected boys often have learning disabilities, resulting in mild delays in speech and language development and problems with reading. Boys and men with Klinefelter syndrome tend to have better receptive language skills (the ability to understand speech) than expressive language skills (vocabulary and the production of speech) and may have difficulty communicating and expressing themselves.

Individuals with Klinefelter syndrome tend to have anxiety, depression, impaired social skills, behavioral problems such as emotional immaturity and impulsivity, attention-deficit/hyperactivity disorder (ADHD), and limited problem-solving skills (executive functioning). About 10 percent of boys and men with Klinefelter syndrome have autism spectrum disorder.

Nearly half of all men with Klinefelter syndrome develop metabolic syndrome, which is a group of conditions that include type 2 diabetes, high blood pressure (hypertension), increased belly fat, high levels of fats (lipids) such as cholesterol and triglycerides in the blood. Compared with unaffected men, adults with Klinefelter syndrome also have an increased risk of developing involuntary trembling (tremors), breast cancer (if gynecomastia develops), thinning and weakening of the bones (osteoporosis), and autoimmune disorders such as systemic lupus erythematosus and rheumatoid arthritis. (Autoimmune disorders are a large group of conditions that occur when the immune system attacks the body's own tissues and organs.)