adrenal hyperplasia, congenital, type 5

Preferred Label : adrenal hyperplasia, congenital, type 5;

MeSH synonym : adrenal hyperplasia, congenital due to 17-alpha-hydroxylase deficiency; 17-alpha-hydroxylase deficiency; adrenal hyperplasia V; adrenal hyperplasia, congenital, due to 17-Alpha-Hydroxylase deficiency;

Details

Origin ID

C538237;

UMLS CUI

C0268285;

CISMeF manual mappings
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency [ORDO Disease]
- congenital adrenal hyperplasia 5 [Disease (Nov.)]
Currated CISMeF NLP mapping
- 17-alpha-hydroxylase deficiency [MedDRA Preferred Term]
- Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency [OMIM Phenotype]
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency [ICD-11 More detail]
- Deficiency of steroid 17-alpha-monooxygenase (disorder) [SNOMED CT concept]
- congenital adrenal hyperplasia due to 17 alpha hydroxylase deficiency [Disease (Nov.)]
- steroid 17 alpha-monooxygenase deficiency [SNOMED Notion]
MeSH term(s) associated for indexing
- adrenal hyperplasia, congenital [MeSH Descriptor]
Record concept(s)
- Adrenal hyperplasia, congenital, type 5 [MeSH concept]
See also (suggested by CISMeF)
- steroid 17-alpha-hydroxylase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 17-alpha-hydroxylase deficiency [MedDRA Preferred Term]
- 46,XY disorder of sex development due to isolated 17,20-lyase deficiency [ORDO Disease]
- Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency [OMIM Phenotype]
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency [ORDO Disease]
- Deficiency of steroid 17-alpha-monooxygenase (disorder) [SNOMED CT concept]
- congenital adrenal hyperplasia 5 [Disease (Nov.)]
- congenital adrenal hyperplasia due to 17 alpha hydroxylase deficiency [Disease (Nov.)]
- steroid 17 alpha-monooxygenase deficiency [SNOMED Notion]

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