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Congenital Erythropoietic Porphyria - Medical Condition Information

Congenital Erythropoietic Porphyria

Guenther PorphyriaGunther Disease
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📋Overview

Congenital erythropoietic porphyria (CEP), also known as Günther disease, is a rare inherited disorder characterized by a deficiency of the enzyme uroporphyrinogen III synthase. This enzyme defect leads to accumulation of porphyrins, causing photosensitivity and damage to skin and other tissues. CEP is classified among the porphyrias, a group of disorders involving abnormalities in heme biosynthesis.

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Medical codes (for reference)

UMLS CUI: C5886774
ICD-10-CM
E80.0
MeSH
D017092
SNOMED CT (US)
22935002190913009

Codes are provided for reference and interoperability. They are not a diagnosis.

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