Congenital Lipoid Adrenal Hyperplasia

Preferred Label : Congenital Lipoid Adrenal Hyperplasia;

NCIt related terms : CLAH;

Alternative definition : NICHD: Congenital adrenal hyperplasia resulting from the deposition of lipid in the adrenal glands due to a defect of intracellular cholesterol transport or metabolism. The condition is characterized by deficiencies of glucocorticoids, mineralocorticoids, and sex steroids: 46,XY infants are undervirilized, whereas 46,XX infants have no genital manifestations.;

Details

Origin ID

C131426;

UMLS CUI

C0342474;

Automatic exact mappings (from CISMeF team)
- Congenital lipoid adrenal hyperplasia due to STAR deficency [ORDO Disease]
- Lipoid congenital adrenal hyperplasia [OMIM Phenotype]
- Lipoid congenital adrenal hyperplasia [MeSH concept]
- congenital adrenal hyperplasia [DO Concept]
- lipoid congenital adrenal hyperplasia [MeSH Supplementary Concept]
Has associated anatomic sites
- Adrenal Gland [NCIt concept]
- Peritoneum and Retroperitoneum [NCIt concept]
- Retroperitoneum [NCIt 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 due to STAR deficency [ORDO Disease]
- Lipoid congenital adrenal hyperplasia [OMIM Phenotype]
- Lipoid congenital adrenal hyperplasia [MeSH concept]
- cholesterol monooxygenase (side-chain cleaving) deficiency [SNOMED Notion]
- congenital lipoid adrenal hyperplasia [Disease (Nov.)]
- lipoid congenital adrenal hyperplasia [MeSH Supplementary Concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Adrenal Gland [NCIt concept]
- Peritoneum and Retroperitoneum [NCIt concept]
- Retroperitoneum [NCIt concept]

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