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.;
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.
Currated CISMeF NLP mapping