Adrenal Gland Hyperplasia III

Preferred Label : Adrenal Gland Hyperplasia III;

NCIt synonyms : CYP21 Deficiency; 21-Hydroxylase Deficieny; CAH1; Adrenal Gland Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency; Congenital Adrenal Hyperplasia 1;

NCIt definition : Decreased activity of the enzyme 21-hydroxylase, associated with mutation(s) in the CYP21A2 gene. The lack of activity of this enzyme produces a type of congenital adrenal hyperplasia (CAH) and is the cause of approximately 95% of CAH.;

Details

Origin ID

C129302;

UMLS CUI

C2936858;

Automatic exact mappings (from CISMeF team)
- cytochrome P450 family 21 subfamily A member 2 [ORDO Gene]
Currated CISMeF NLP mapping
- Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency [OMIM Phenotype]
- Congenital adrenal hyperplasia due to 21 hydroxylase deficiency [MeSH concept]
- congenital adrenal hyperplasia due to 21 hydroxylase deficiency [MeSH Supplementary Concept]
Has associated anatomic sites
- Adrenal Gland [NCIt concept]
- Peritoneum and Retroperitoneum [NCIt concept]
- Retroperitoneum [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency [OMIM Phenotype]
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ORDO Disease]
- Congenital adrenal hyperplasia due to 21 hydroxylase deficiency [MeSH concept]
- Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ORDO Disease]
- congenital adrenal hyperplasia due to 21 hydroxylase deficiency [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ORDO Disease]
- Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ORDO Disease]
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
- CYP21A2 Gene [NCIt concept]

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