Edwards' syndrome

This code represents Edwards' syndrome, a severe chromosomal disorder caused by the presence of an extra copy of chromosome 18 (trisomy 18). It is characterized by multiple congenital anomalies, including severe intellectual disability, growth retardation, and various organ malformations, often leading to early mortality.

Use this code for patients diagnosed with Edwards' syndrome based on genetic testing (karyotype) confirming trisomy 18. This diagnosis is typically made prenatally or shortly after birth due to the characteristic physical findings and severe developmental issues. Documentation should clearly state the diagnosis of Edwards' syndrome or trisomy 18.

• Always confirm the diagnosis through genetic testing results documented in the patient record.
• Code all associated congenital anomalies and organ malformations separately, as they are integral to the clinical picture.
• This code is typically a primary diagnosis for infants with the condition, but may be a secondary diagnosis if another acute condition is the reason for the encounter.