" /> Homozygous hereditary coproporphyria - CISMeF





Preferred Label : Homozygous hereditary coproporphyria;

ICD-11 definition : This is a hereditary autosomal-dominant disorder of heme biosynthesis resulting from a partial deficiency of coproporphyrinogen oxidase. It is clinically characterized by neurologic dysfunction attacks and occasional photosensitivity. This disease is rare before puberty, and all reported early-onset cases have been in the homozygous or the compound heterozygous state.;

ICD-11 synonym : Homozygous HCP - [coproporphyrinogen oxidase deficiency]; Homozygous HCP; Homozygous coproporphyrinogen oxidase deficiency; coproporphyrinogen oxidase deficiency;

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This is a hereditary autosomal-dominant disorder of heme biosynthesis resulting from a partial deficiency of coproporphyrinogen oxidase. It is clinically characterized by neurologic dysfunction attacks and occasional photosensitivity. This disease is rare before puberty, and all reported early-onset cases have been in the homozygous or the compound heterozygous state.

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29/07/2025


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