Salt-Wasting 21-Hydroxylase Deficiency

Preferred Label : Salt-Wasting 21-Hydroxylase Deficiency;

NCIt synonyms : Salt-wasting 21-OHD;

NCIt definition : A classic form of congenital adrenal hyperplasia characterized by complete absence of 21-hydroxylase activity resulting in deficiency of glucocorticoids and mineralocorticoids accompanied by androgen excess causing virilization in female infants. Mineralocorticoid deficiency results in renal salt-wasting, and if untreated, hyponatremia, hyperkalemia, and shock.;

Alternative definition : NICHD: A classic form of congenital adrenal hyperplasia characterized by complete absence of 21-hydroxylase activity, resulting in deficiency of glucocorticoids and mineralocorticoids accompanied by androgen excess, causing virilization in female infants. Mineralocorticoid deficiency results in renal salt-wasting, and, if untreated, hyponatremia, hyperkalemia, and shock.;

NCI Metathesaurus CUI : CL514183;

Details

Origin ID

C131134;

UMLS CUI

C4331270;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
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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