2025 ICD-10-CM code Q90
(Active) Effective Date: N/A Revision Date: N/A Deletion Date: N/A Congenital malformations - Chromosomal abnormalities, not elsewhere classified Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99) Feed
Down syndrome, a chromosomal abnormality characterized by an extra copy of chromosome 21.
Modifiers may be applicable depending on the context and additional procedures performed. Consult your local coding guidelines for specifics.
Diagnosis of Down syndrome is medically necessary to guide appropriate medical management, including early intervention services, monitoring for associated conditions, and genetic counseling.Prenatal diagnosis is used to inform parental decision-making.
Diagnosis and management of Down syndrome, including monitoring for associated conditions, genetic counseling, and appropriate referrals to specialists.Ongoing assessment of developmental milestones and provision of appropriate interventions.
- Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
- Q90-Q99 (Chromosomal abnormalities, not elsewhere classified)
In simple words: Down syndrome is a condition caused by an extra chromosome, leading to developmental delays and characteristic physical features. People with Down syndrome may have varying degrees of intellectual disability and may experience health challenges like heart problems or hearing loss.The severity varies widely.
Down syndrome (Trisomy 21) is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.This leads to a range of physical and intellectual developmental delays.Characteristics can include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots, protruding tongue, small ears, short broad hands, clinodactyly of the fifth finger, simian crease, and varying degrees of intellectual disability.Associated conditions such as congenital heart defects (e.g., atrioventricular septal defect), gastrointestinal malformations, hearing loss, and increased susceptibility to certain medical complications are common. The severity of symptoms varies greatly among individuals.
Example 1: A newborn infant presents with hypotonia, characteristic facial features (upslanting palpebral fissures, flat facial profile), and a single palmar crease.Chromosomal analysis confirms trisomy 21.Code Q90 is assigned., A 5-year-old child with a history of Down syndrome is evaluated for developmental delays.Assessment shows mild intellectual disability, speech impairment, and moderate hypotonia. Code Q90 is used for the diagnosis of Down syndrome.Additional codes might be used to specify the level of intellectual disability and associated physical conditions., A pregnant woman receives prenatal genetic screening, which reveals a fetus with trisomy 21. The code Q90 is used to document this prenatal finding.
Prenatal genetic testing results (if applicable), physical examination findings documenting characteristic features, developmental assessment, echocardiogram (if cardiac involvement is suspected), hearing evaluation, and any other relevant specialist assessments.
** The severity of Down syndrome varies significantly.Always use additional codes to document associated anomalies and specify the severity of any co-morbidities.The use of Q90 does not imply a specific level of intellectual disability; additional codes from the F70-F79 range should be used to specify the level of impairment.
- Revenue Code:
- RVU:
- Global Days:
- Payment Status: Active
- Modifier TC rule: Not applicable.
- Fee Schedule:
- Specialties:Genetics, Pediatrics, Cardiology, Neonatology, Obstetrics
- Place of Service:Office, Inpatient Hospital, Outpatient Hospital, Birthing Center