Preferred Label : Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency;
ICD-11 definition : This refers to any of several autosomal recessive diseases resulting from mutations
of genes for enzymes mediating the biochemical steps of production of cortisol from
cholesterol by the adrenal glands (steroidogenesis). This diagnosis is due to cytochrome
P450 oxidoreductase deficiency.;
ICD-11 synonym : Congenital adrenal hyperplasia due to cytochrome POR deficiency;
Origin ID : 497412536;
Currated CISMeF NLP mapping
This refers to any of several autosomal recessive diseases resulting from mutations
of genes for enzymes mediating the biochemical steps of production of cortisol from
cholesterol by the adrenal glands (steroidogenesis). This diagnosis is due to cytochrome
P450 oxidoreductase deficiency.
