lipoid congenital adrenal hyperplasia

Preferred Label : lipoid congenital adrenal hyperplasia;

MeSH synonym : lipoid hyperplasia, congenital, of adrenal cortex with male pseudohermaphroditism; adrenal hyperplasia 1; adrenal hyperplasia I;

Details

Origin ID

C537027;

UMLS CUI

C0342474;

Automatic exact mappings (from CISMeF team)
- Cholesterol monooxygenase (side-chain cleaving) deficiency (disorder) [SNOMED CT concept]
- Congenital Lipoid Adrenal Hyperplasia [NCIt concept]
- congenital adrenal hyperplasia [DO Concept]
Currated CISMeF NLP mapping
- Congenital lipoid adrenal hyperplasia due to STAR deficency [ORDO Disease]
- Lipoid congenital adrenal hyperplasia [OMIM Phenotype]
- congenital lipoid adrenal hyperplasia [Disease (Nov.)]
MeSH term(s) associated for indexing
- Disorder of Sex Development, 46,XY [MeSH Descriptor]
- adrenal hyperplasia, congenital [MeSH Descriptor]
ORDO relation(s)
- Congenital lipoid adrenal hyperplasia due to STAR deficency [ORDO Disease]
Record concept(s)
- Lipoid congenital adrenal hyperplasia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 20,22-desmolase deficiency [MedDRA Preferred Term]
- Cholesterol monooxygenase (side-chain cleaving) deficiency (disorder) [SNOMED CT concept]
- Congenital Lipoid Adrenal Hyperplasia [NCIt concept]
- Congenital lipoid adrenal hyperplasia due to STAR deficency [ORDO Disease]
- Lipoid congenital adrenal hyperplasia [OMIM Phenotype]
- cholesterol monooxygenase (side-chain cleaving) deficiency [SNOMED Notion]
- congenital lipoid adrenal hyperplasia [Disease (Nov.)]

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