Adrenal Gland Hyperplasia II

Preferred Label : Adrenal Gland Hyperplasia II;

NCIt synonyms : Adrenal Gland Hyperplasia, Congenital, due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency; HSDB; 3-Beta-Hydroxysteroid Dehydrogenase Deficiency;

NCIt definition : Decreased activity of the enzyme 3-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD3B2 gene. The lack of activity of this enzyme produces a type of congenital adrenal hyperplasia.;

Details

Origin ID

C129301;

UMLS CUI

C4284917;

Has associated anatomic sites
- Adrenal Gland [NCIt concept]
- Peritoneum and Retroperitoneum [NCIt concept]
- Retroperitoneum [NCIt concept]
See also inter- (CISMeF)
- 3 beta-Hydroxysteroid dehydrogenase deficiency (disorder) [SNOMED CT concept]
- 3 beta-hydroxysteroid dehydrogenase deficiency [SNOMED Notion]
- Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency [OMIM Phenotype]
- Deficiency of 3beta-hydroxysteroid dehydrogenase (disorder) [SNOMED CT concept]
- adrenal hyperplasia 2 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Adrenal Gland [NCIt concept]
- Peritoneum and Retroperitoneum [NCIt concept]
- Retroperitoneum [NCIt concept]
disease_mapped_to_gene
- HSD3B2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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