Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

Definition

Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.

Also known as adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, CAH due to 11-beta-hydroxylase deficiency, CYP11B1 deficiency — per MONDO

Also identified as

• ICD9 277.6 per MONDO
• MESH C535978 per MONDO
• NCIT C131085 per MONDO
• OMIM 202010 per MONDO
• Orphanet 90795 per MONDO
• SCTID 124214007 per MONDO
• UMLS C0268292 per MONDO

Affected Organs