ABCC6 deficiency causing gen arterial calcifcn of infancy

This code identifies a rare genetic disorder characterized by the deficiency of the ABCC6 protein, leading to widespread calcification of arteries throughout the body, typically presenting in infancy. This condition is a severe form of generalized arterial calcification of infancy (GACI) type 2, impacting cardiovascular function due to mineral deposition in arterial walls.

Apply this code when documentation explicitly states a diagnosis of ABCC6 deficiency causing generalized arterial calcification of infancy, or GACI type 2. This diagnosis is typically confirmed through genetic testing identifying mutations in the ABCC6 gene and clinical findings of arterial calcification in an infant.

• Ensure documentation specifies ABCC6 deficiency as the cause of the arterial calcification, differentiating it from other genetic causes of GACI.
• Do not use this code for other forms of generalized arterial calcification of infancy (e.g., due to ENPP1 deficiency).
• Consider sequencing this code as the primary diagnosis when it is the main reason for the encounter, followed by codes for specific manifestations or complications.