Simple Virilizing 21-Hydroxylase Deficiency

Preferred Label : Simple Virilizing 21-Hydroxylase Deficiency;

NCIt related terms : Simple Virilizing 21-OHD;

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

NCI Metathesaurus CUI : CL521137;

Details

Origin ID

C132096;

UMLS CUI

C3838669;

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]

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