ENPP1 def cause autosom recess hypophosphate rickets type 2

This code identifies a rare genetic disorder characterized by impaired renal phosphate reabsorption and defective bone mineralization, leading to rickets or osteomalacia. It specifically points to the underlying cause as a deficiency in the ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) enzyme, resulting in an autosomal recessive inheritance pattern.

Use this code for patients diagnosed with hypophosphatemic rickets where genetic testing or clinical evaluation confirms an ENPP1 deficiency. Documentation should clearly state the diagnosis of autosomal recessive hypophosphatemic rickets type 2 (ARHR2) or explicitly mention ENPP1 deficiency as the etiology.

• Ensure documentation specifies "type 2" or "ENPP1 deficiency" to differentiate from other forms of hypophosphatemic rickets.
• Do not confuse with X-linked hypophosphatemic rickets (XLH) or other genetic causes of hypophosphatemia.
• Consider co-reporting with codes for associated manifestations such as bone deformities, short stature, or dental abnormalities.