congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency

Preferred Label : congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency;

CISMeF synonym : 11-Beta-hydroxylase deficiency;

MeSH synonym : adrenal hyperplasia 4; congenital adrenal hyperplasia type 4; hypertensive form of adrenal hyperplasia; adrenal hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency; adrenal hyperplasia, congenital, due to steroid 11-Beta-Hydroxylase deficiency; adrenal hyperplasia iv; adrenal hyperplasia, hypertensive form; CYP11B1 deficiency congenital; congenital CYP11B1 deficiency;

MeSH Hyperonym : 11B Hydroxylase Deficiency; 11 Beta Hydroxylase Deficiency; Steroid 11 Beta Hydroxylase Deficiency; P450C11B1 deficiency; Steroid 11-Beta-Hydroxylase Deficiency;

Details

Origin ID

C535978;

UMLS CUI

C0268292;

Automatic exact mappings (from CISMeF team)
- 3 beta-Hydroxysteroid dehydrogenase deficiency (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 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 [ICD-11 More detail]
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency [ORDO Disease]
- Deficiency of steroid 11-beta-monooxygenase (disorder) [SNOMED CT concept]
- steroid 11 beta-monooxygenase deficiency [SNOMED Notion]
MeSH term(s) associated for indexing
- adrenal hyperplasia, congenital [MeSH Descriptor]
ORDO relation(s)
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency [ORDO Disease]
Record concept(s)
- 11-Beta-hydroxylase deficiency [MeSH concept]
- Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency [MeSH concept]
- Increased urinary 11-deoxytetrahydrocorticosterone level [MeSH concept]
See also (suggested by CISMeF)
- steroid 11-beta-hydroxylase [MeSH Descriptor]
See also inter- (CISMeF)
- 11-Beta-Hydroxylase Deficiency [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 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 4 [Disease (Nov.)]
- steroid 11 beta-monooxygenase deficiency [SNOMED Notion]
Validated automatic mappings to BTNT
- congenital adrenal hyperplasia 4 [Disease (Nov.)]

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