Individual with autosomal fragile site

This code identifies an individual diagnosed with an autosomal fragile site, which is a specific location on a non-sex chromosome that is prone to breaking or forming gaps under certain laboratory conditions. These sites are typically inherited and can be associated with various genetic disorders or predispositions, though many individuals with fragile sites remain asymptomatic.

Use this code when documentation confirms the presence of an autosomal fragile site, often identified through cytogenetic studies. This may be found during genetic counseling for developmental delays, intellectual disability, or a family history of genetic conditions. Supporting documentation includes laboratory reports detailing the identification of the fragile site.

• Do not confuse with codes for specific syndromes or disorders that may be associated with fragile sites; this code is for the presence of the site itself.
• Always review the medical record for any associated clinical manifestations or genetic syndromes that may require additional coding.
• Ensure the documentation clearly specifies "autosomal" to differentiate from X-linked fragile sites (e.g., Fragile X syndrome).