Hereditary erythropoietic porphyria

This code identifies congenital erythropoietic porphyria (CEP), also known as Günther's disease, a rare autosomal recessive metabolic disorder. It results from a deficiency in uroporphyrinogen III synthase, leading to the accumulation of porphyrin precursors in red blood cells, plasma, and urine. Clinically, it manifests with severe photosensitivity, hemolytic anemia, and reddish-brown urine.

Assign this code for patients diagnosed with hereditary erythropoietic porphyria based on clinical presentation and laboratory confirmation of enzyme deficiency or elevated porphyrin levels. Documentation should clearly indicate the diagnosis of CEP, often noting characteristic symptoms like severe blistering, hypertrichosis, and erythrodontia.

• Differentiate from other porphyrias; this code is specific to the erythropoietic type.
• Ensure documentation specifies "hereditary" or "congenital" to support this diagnosis.
• Consider additional codes for associated manifestations such as hemolytic anemia (e.g., D55.0) or skin lesions (e.g., L56.0 for drug-induced photosensitivity, if applicable, or other L codes for specific skin conditions).