11-Beta-Hydroxylase Deficiency

Preferred Label : 11-Beta-Hydroxylase Deficiency;

Alternative definition : NICHD: Decreased or absent activity of the enzyme 11-beta-hydroxylase caused by loss-of-function mutations in the CYP11B1 gene, resulting in congenital adrenal hyperplasia. Clinical manifestations of this condition include virilization in 46XX infants and hypertension.;

Details

Origin ID

C131085;

UMLS CUI

C3669121;

Currated CISMeF NLP mapping
- 11-Beta-hydroxylase deficiency [MeSH concept]
See also inter- (CISMeF)
- 11 beta hydroxylase deficiency [Disease (Nov.)]
- 11-beta-hydroxylase deficiency [MedDRA Preferred Term]
- Adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency [OMIM Phenotype]
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency [ORDO Disease]
- Deficiency of steroid 11-beta-monooxygenase (disorder) [SNOMED CT concept]
- congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency [MeSH Supplementary Concept]
- steroid 11 beta-monooxygenase deficiency [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 11-Beta-hydroxylase deficiency [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- CYP11B1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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