Classic Congenital Adrenal Hyperplasia

Preferred Label : Classic Congenital Adrenal Hyperplasia;

Alternative definition : NICHD: A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement.;

NCI Metathesaurus CUI : CL514274;

Details

Origin ID

C131423;

UMLS CUI

C4329672;

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]
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]

Keyword's position in hierarchy(ies) :

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