Hereditary erythropoietic porphyria
- E80.0 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.
- The 2025 edition of ICD-10-CM E80.0 became effective on October 1, 2024.
- This is the American ICD-10-CM version of E80.0 – other international versions of ICD-10 E80.0 may differ.
Applicable To
- Congenital erythropoietic porphyria
- Erythropoietic protoporphyria
The following code(s) above E80.0 contain annotation back-references
that may be applicable to E80.0:
- E00-E89 Endocrine, nutritional and metabolic diseases
- E70-E88 Metabolic disorders
- E80 Disorders of porphyrin and bilirubin metabolism
Approximate Synonyms
- Congenital erythropoietic porphyria
Clinical Information
- A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. It is caused by deficiency of the enzyme ferrochelatase. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.
- A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. It is caused by deficiency of the enzyme uroporphyrinogen iii cosynthetase. It results in cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas.
- An autosomal dominant porphyria that is due to a deficiency of ferrochelatase (heme synthetase) in both the liver and the bone marrow, the last enzyme in the 8-enzyme biosynthetic pathway of heme. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and coproporphyrins in the feces.
- An autosomal recessive porphyria that is due to a deficiency of uroporphyrinogen iii synthase in the bone marrow; also known as congenital erythropoietic porphyria. This disease is characterized by splenomegaly; anemia; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of uroporphyrins and coproporphyrins.
- Autosomal dominant disorder due to partial deficiency of ferrochelatase, characterized by an excess of protoporphyrin and a wide variety of photosensitive skin changes.
- Autosomal recessive porphyria characterized by splenomegaly, photosensitivity, hemolytic anemia, and the appearance of red urine in early infancy; results from increased synthesis of uroporphyrinogen i relative to uroporphyrinogen iii in bone marrow normoblasts.
ICD-10-CM E80.0 is grouped within Diagnostic Related Group(s) (MS-DRG v42.0):
- 642 Inborn and other disorders of metabolism
Convert E80.0 to ICD-9-CMCode History
- 2016 (effective 10/1/2015): New code (first year of non-draft ICD-10-CM)
- 2017 (effective 10/1/2016): No change
- 2018 (effective 10/1/2017): No change
- 2019 (effective 10/1/2018): No change
- 2020 (effective 10/1/2019): No change
- 2021 (effective 10/1/2020): No change
- 2022 (effective 10/1/2021): No change
- 2023 (effective 10/1/2022): No change
- 2024 (effective 10/1/2023): No change
- 2025 (effective 10/1/2024): No change
Code annotations containing back-references to E80.0:
- Type 1 Excludes: Q82
Diagnosis Index entries containing back-references to E80.0:
- Porphyria (South African) E80.20
- erythropoietic E80.0 (congenital) (hereditary)
- Protoporphyria, erythropoietic E80.0