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Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency (MONDO:0008729)

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.

Overview

Category

reproductive system disorder

endocrine system disorder

Ontology ID

MONDO:0008729

Internal:10002

Synonyms

CAH due to 11-beta-hydroxylase deficiency

CYP11B1 deficiency

adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency

11-Beta-Hydroxylase deficiency

P450C11B1 deficiency

adrenal hyperplasia 4

adrenal hyperplasia IV

adrenal hyperplasia hypertensive form

adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency

adrenal hyperplasia, hypertensive form

steroid 11-Beta-Hydroxylase deficiency

Mapped terms

GARD:0005658

ICD9:277.6

MEDGEN:82783

MESH:C535978

MedDRA:10000002

NANDO:1200400

NANDO:2200372

NCIT:C131085

OMIM:202010

Orphanet:90795

SCTID:124214007

UMLS:C0268292

icd11.foundation:791376680

Child terms

Unknown children.

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