Find comprehensive information on Down syndrome (Trisomy 21) diagnosis, including clinical features, diagnostic criteria, and medical coding guidelines. Learn about the genetic basis of Trisomy 21, associated health conditions, and healthcare management strategies. This resource supports accurate clinical documentation and appropriate medical coding for Down syndrome.
Also known as
Down syndrome
Chromosomal abnormality causing intellectual disability and physical characteristics.
Chromosomal abnormalities, not elsewhere classified
Conditions caused by changes in chromosome number or structure.
Intellectual disabilities
Significant limitations in both intellectual functioning and adaptive behavior.
Follow this step-by-step guide to choose the correct ICD-10 code.
Is the diagnosis confirmed as Down Syndrome?
Yes
Are there any associated congenital heart defects?
No
Do not code as Down syndrome. Code the suspected or confirmed diagnosis.
When to use each related code
| Description |
|---|
| Genetic disorder causing developmental delays. |
| Extra X chromosome in males causing infertility. |
| Absence of one X chromosome in females. |
Using only D codes lacks Down Syndrome type/severity detail required for accurate reimbursement and quality reporting. Consider Q90 for congenital.
Mongolism is offensive and obsolete. Use Trisomy 21 or Down Syndrome for proper documentation and coding compliance.
Down Syndrome often presents with other conditions (e.g., heart defects, CHD). Ensure complete documentation for accurate risk adjustment.
Q: What are the most reliable diagnostic tests for Down Syndrome during pregnancy, and how do their sensitivities and specificities compare?
A: Several diagnostic tests can confirm Down Syndrome during pregnancy, each with varying sensitivities and specificities. Chorionic villus sampling (CVS), typically performed between 10 and 13 weeks, offers a high sensitivity (around 98-99%) and specificity (around 99%) for detecting trisomy 21. Amniocentesis, performed between 15 and 20 weeks, also exhibits a high sensitivity (around 99%) and specificity (approaching 100%). Non-invasive prenatal screening (NIPS), using cell-free fetal DNA from the mother's blood, is a highly sensitive screening option (over 99% for Down Syndrome) but is not diagnostic. A positive NIPS result requires confirmation by CVS or amniocentesis. Consider implementing a stepped approach to prenatal screening and diagnosis, starting with NIPS and proceeding to invasive testing when indicated. Explore how different prenatal testing options align with patient preferences and risk factors.
Q: Beyond the characteristic physical features, what subtle clinical manifestations of Down Syndrome should clinicians be vigilant for in newborns and infants?
A: While the characteristic physical features of Down syndrome, such as epicanthic folds, a flat nasal bridge, and a single palmar crease, often facilitate early diagnosis, clinicians should also be aware of more subtle manifestations. In newborns, hypotonia (low muscle tone), feeding difficulties, and congenital heart defects (particularly atrioventricular septal defects) are important clinical indicators. Infants with Down syndrome may also present with duodenal atresia, hypothyroidism, and an increased risk of infections. Early detection and intervention for these conditions are crucial for optimizing developmental outcomes. Learn more about specific cardiac screening recommendations and early intervention programs for infants with Down syndrome.
Patient presents with clinical features consistent with a diagnosis of Down syndrome (Trisomy 21), a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. Physical examination findings include characteristic facial features such as upslanting palpebral fissures, epicanthic folds, a flat nasal bridge, and a single palmar crease. Developmental milestones may be delayed, with varying degrees of intellectual disability. The patient's karyotype analysis confirmed the presence of Trisomy 21, establishing the definitive diagnosis. Medical history reveals no significant comorbidities at this time. The plan of care includes referral to early intervention services, including developmental pediatrics, speech therapy, occupational therapy, and physical therapy. Genetic counseling will be provided to the family to discuss the implications of the diagnosis, recurrence risks, and available support resources. Regular monitoring for common Down syndrome associated conditions, such as congenital heart defects, hearing loss, hypothyroidism, and leukemia, will be implemented. ICD-10 code Q90.9 will be used for Down syndrome, unspecified. Continued assessment and individualized management will be provided to address the patient's specific needs and optimize developmental outcomes.