MeSH Browser

MeSH Supplementary: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Unique ID: C535979
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535979
Entry Term(s): 21 alpha hydroxylase deficiency; 21 hydroxylase deficiency; 21-Hydroxylase Deficiency; Adrenal hyperplasia III; Attenuated congenital adrenal hyperplasia; CYP21 deficiency; Congenital adrenal hyperplasia 1; LOCAH; Late-onset congenital adrenal hyperplasia; NCCAH; Non classic congenital adrenal hyperplasia
Registry Number: 0
Heading Mapped to: *Adrenal Hyperplasia, Congenital
Frequency: 418
Note: Congenital adrenal hyperplasia that results from a deficiency in one or another of the enzymes of CORTISOL biosynthesis. In most cases, 21-hydroxylation is impaired in the ZONA FASCICULATA of the ADRENAL CORTEX so that 17-HYDROXYPROGESTERONE (17-OHP) is not converted to 11-DEOXYCORTISOL. This causes excessive production of ANDROGENS and VIRILIZATION. Caused by germline mutations in the CYP21A2 gene. OMIM: 201910
Date of Entry: 2010/08/25
Revision Date: 2016/09/29

Concept UI: M0532338
Registry Number: 0
Terms: Late-onset congenital adrenal hyperplasia Preferred Term
Term UI T744048
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Attenuated congenital adrenal hyperplasia
Term UI T744052
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); NCCAH
Term UI T744051
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); LOCAH
Term UI T744049
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Non classic congenital adrenal hyperplasia
Term UI T744050
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010)

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency MeSH Supplementary Concept Data 2023