2020 ICD-10-CM Diagnosis Code E80.0

Hereditary erythropoietic porphyria

    2016 2017 2018 2019 2020 Billable/Specific Code
  • E80.0 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.
  • The 2020 edition of ICD-10-CM E80.0 became effective on October 1, 2019.
  • 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
Annotation Back-References
In this context, annotation back-references refer to codes that contain:
  • Applicable To annotations, or
  • Code Also annotations, or
  • Code First annotations, or
  • Excludes1 annotations, or
  • Excludes2 annotations, or
  • Includes annotations, or
  • Note annotations, or
  • Use Additional annotations
that may be applicable to E80.0:
  • E00-E89
    2020 ICD-10-CM Range E00-E89

    Endocrine, nutritional and metabolic diseases

    Note
    • All neoplasms, whether functionally active or not, are classified in Chapter 2. Appropriate codes in this chapter (i.e. E05.8, E07.0, E16-E31, E34.-) may be used as additional codes to indicate either functional activity by neoplasms and ectopic endocrine tissue or hyperfunction and hypofunction of endocrine glands associated with neoplasms and other conditions classified elsewhere.
    Type 1 Excludes
    • transitory endocrine and metabolic disorders specific to newborn (P70-P74)
    Endocrine, nutritional and metabolic diseases
  • E70-E88
    2020 ICD-10-CM Range E70-E88

    Metabolic disorders

    Type 1 Excludes
    • androgen insensitivity syndrome (E34.5-)
    • congenital adrenal hyperplasia (E25.0)
    • Ehlers-Danlos syndrome (Q79.6-)
    • hemolytic anemias attributable to enzyme disorders (D55.-)
    • Marfan's syndrome (Q87.4)
    • 5-alpha-reductase deficiency (E29.1)
    Metabolic disorders
  • E80
    ICD-10-CM Diagnosis Code E80

    Disorders of porphyrin and bilirubin metabolism

      2016 2017 2018 2019 2020 Non-Billable/Non-Specific Code
    Includes
    • defects of catalase and peroxidase
    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 v37.0):
  • 642 Inborn and other disorders of metabolism

Convert E80.0 to ICD-9-CM

Code 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
Code annotations containing back-references to E80.0:
  • Type 1 Excludes: Q82
    ICD-10-CM Diagnosis Code Q82

    Other congenital malformations of skin

      2016 2017 2018 2019 2020 Non-Billable/Non-Specific Code
    Type 1 Excludes
    • acrodermatitis enteropathica (E83.2)
    • congenital erythropoietic porphyria (E80.0)
    • pilonidal cyst or sinus (L05.-)
    • Sturge-Weber (-Dimitri) syndrome (Q85.8)

Diagnosis Index entries containing back-references to E80.0:
  • Porphyria (South African) E80.20
    ICD-10-CM Diagnosis Code E80.20

    Unspecified porphyria

      2016 2017 2018 2019 2020 Billable/Specific Code
    Applicable To
    • Porphyria NOS
    • erythropoietic E80.0 (congenital) (hereditary)
  • Protoporphyria, erythropoietic E80.0

ICD-10-CM Codes Adjacent To E80.0
E78.81 Lipoid dermatoarthritis
E78.89 Other lipoprotein metabolism disorders
E78.9 Disorder of lipoprotein metabolism, unspecified
E79 Disorders of purine and pyrimidine metabolism
E79.0 Hyperuricemia without signs of inflammatory arthritis and tophaceous disease
E79.1 Lesch-Nyhan syndrome
E79.2 Myoadenylate deaminase deficiency
E79.8 Other disorders of purine and pyrimidine metabolism
E79.9 Disorder of purine and pyrimidine metabolism, unspecified
E80 Disorders of porphyrin and bilirubin metabolism
E80.0 Hereditary erythropoietic porphyria
E80.1 Porphyria cutanea tarda
E80.2 Other and unspecified porphyria
E80.20 Unspecified porphyria
E80.21 Acute intermittent (hepatic) porphyria
E80.29 Other porphyria
E80.3 Defects of catalase and peroxidase
E80.4 Gilbert syndrome
E80.5 Crigler-Najjar syndrome
E80.6 Other disorders of bilirubin metabolism
E80.7 Disorder of bilirubin metabolism, unspecified

Reimbursement claims with a date of service on or after October 1, 2015 require the use of ICD-10-CM codes.