Balanced autosomal rearrangement in abnormal individual

This code signifies a chromosomal abnormality where an individual possesses a balanced autosomal rearrangement, meaning there is no net gain or loss of genetic material, but the arrangement of chromosomes is abnormal. Despite the balanced nature, this rearrangement is associated with an abnormal phenotype, often involving developmental delays, intellectual disability, or congenital anomalies.

Use this code when documentation confirms a balanced autosomal rearrangement identified through cytogenetic studies (e.g., karyotyping, FISH) in a patient presenting with clinical abnormalities. This typically applies to individuals where the rearrangement is determined to be the underlying cause or a significant contributing factor to their clinical presentation.

• Ensure documentation explicitly states "balanced" and "autosomal rearrangement" along with the presence of an "abnormal individual" or associated clinical findings.
• Do not use this code for balanced rearrangements found in phenotypically normal individuals (carriers), as a different code applies for such cases.
• Consider sequencing this code as the primary diagnosis when the rearrangement is the definitive cause of the patient's condition, followed by codes for specific associated clinical manifestations.