21-Hydroxylase Deficiency

Preferred Label : 21-Hydroxylase Deficiency;

NCIt related terms : 21-OHD;

NCIt definition : A classic form of congenital adrenal hyperplasia that is characterized by severe 21-hydroxylase deficiency, resulting in glucocorticoid and mineralocorticoid deficiency, without clinically significant salt wasting, and androgen excess, which causes virilization in female infants.;

Alternative definition : NICHD: Congenital adrenal hyperplasia caused by loss-of-function mutations in the CYP21A2 gene associated with decreased or absent activity of the 21-hydroxylase enzyme, resulting in inefficient steroidogenesis of glucocorticoids and mineralocorticoids. The clinical manifestations of the deficiency are dependent on the degree of reduction of enzymatic activity.;

Details

Origin ID

C131087;

UMLS CUI

C0852654;

Automatic exact mappings (from CISMeF team)
- Congenital adrenogenital disorders associated with enzyme deficiency [ICD-10 Sub-category]
- Deficiency of steroid 21-monooxygenase (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 21-hydroxylase deficiency [MedDRA Preferred Term]
- Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency [OMIM Phenotype]
- congenital adrenal hyperplasia due to 21 hydroxylase deficiency [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ORDO Disease]
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) [SNOMED CT concept]
- Congenital adrenal hyperplasia due to 21 hydroxylase deficiency [MeSH concept]
- Congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 21-hydroxylase deficiency [MedDRA Preferred Term]
Validated automatic mappings to BTNT
- steroid 21-monooxygenase deficiency, simple virilizing type [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- CYP21A2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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