5C58.12 Erythropoietic porphyrias
International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01
Erythropoietic porphyrias are associated clinically with photosensitivity and biochemically with abnormal accumulation of porphyrins in erythrocytes. They include erythropoietic protoporphyria and the very rare congenital erythropoietic porphyria.
synonyms
- Erythropoietic porphyrias
- Erythropoietic protoporphyria
- Ferrochelatase deficiency
- Heme synthetase deficiency
- EPP - [erythropoietic protoporphyria]
- Erythropoietic protoporphyria due to ferrochelatase deficiency
- EPP due to ferrochelatase deficiency
- FECH-deficient EPP
- Erythropoietic protoporphyria due to gain of function of erythroid-specific aminolevulinic acid synthase 2
- EPP due to gain of function of erythroid-specific aminolevulinic acid synthase 3
- X-linked dominant protoporphyria
- X-linked protoporphyria
- XLDPP - [X-linked dominant protoporphyria]
- XLP - [X-linked protoporphyria]
- Congenital erythropoietic porphyria
- Günther disease
- Hereditary erythropoietic porphyria
- Uroporphyrinogen III synthase deficiency
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