Preferred Label : Congenital adrenal hyperplasia due to 17-alpha-hydroxylase 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 17-alpha-hydroxylase
deficiency.;
Origin ID : 587903316;
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 17-alpha-hydroxylase
deficiency.
