Disorders of porphyrin and bilirubin metabolism (E80)

• ICD-10 Index

  • Endocrine, nutritional and metabolic diseases (E00–E90)

    • Metabolic disorders (E70-E88)

      • Disorders of porphyrin and bilirubin metabolism (E80)

        • E80 - Disorders of porphyrin and bilirubin metabolism NON-BILLABLE CODE
        • E80.0 - Hereditary erythropoietic porphyria BILLABLE CODE
        • E80.1 - Porphyria cutanea tarda BILLABLE CODE
        • E80.2 - Other and unspecified porphyria NON-BILLABLE CODE
        • E80.20 - Unspecified porphyria BILLABLE CODE
        • E80.21 - Acute intermittent (hepatic) porphyria BILLABLE CODE
        • E80.29 - Other porphyria BILLABLE CODE
        • E80.3 - Defects of catalase and peroxidase BILLABLE CODE
        • E80.4 - Gilbert syndrome BILLABLE CODE
        • E80.5 - Crigler-Najjar syndrome BILLABLE CODE
        • E80.6 - Other disorders of bilirubin metabolism BILLABLE CODE
        • E80.7 - Disorder of bilirubin metabolism, unspecified BILLABLE CODE

Clinical Information for Disorders of porphyrin and bilirubin metabolism (E80)

Porphyria Cutanea Tarda - An autosomal dominant or acquired porphyria due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in the LIVER. It is characterized by photosensitivity and cutaneous lesions with little or no neurologic symptoms. Type I is the acquired form and is strongly associated with liver diseases and hepatic toxicities caused by alcohol or estrogenic steroids. Type II is the familial form.

Gilbert Disease - A benign familial disorder, transmitted as an autosomal dominant trait. It is characterized by low-grade chronic hyperbilirubinemia with considerable daily fluctuations of the bilirubin level.

Hyperbilirubinemia - A condition characterized by an abnormal increase of BILIRUBIN in the blood, which may result in JAUNDICE. Bilirubin, a breakdown product of HEME, is normally excreted in the BILE or further catabolized before excretion in the urine.

Hyperbilirubinemia, Hereditary - Inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating blood, either because of increased bilirubin production or because of delayed clearance of bilirubin from the blood.

Hyperbilirubinemia, Neonatal - Accumulation of BILIRUBIN, a breakdown product of HEME PROTEINS, in the BLOOD during the first weeks of life. This may lead to NEONATAL JAUNDICE. The excess bilirubin may exist in the unconjugated (indirect) or the conjugated (direct) form. The condition may be self-limiting (PHYSIOLOGICAL NEONATAL JAUNDICE) or pathological with toxic levels of bilirubin.

Jaundice, Chronic Idiopathic - A benign, autosomally recessive inherited hyperbilirubinemia characterized by the presence of a dark pigment in the centrilobular region of the liver cells. There is a functional defect in biliary excretion of bilirubin, cholephilic dyes, and porphyrins. Affected persons may be asymptomatic or have vague constitutional or gastrointestinal symptoms. The liver may be slightly enlarged, and oral and intravenous cholangiography fails to visualize the biliary tract.

Instructional Notations

Includes Includes
This note appears immediately under a three character code title to further define, or give examples of, the content of the category.

• defects of catalase and peroxidase