Familial Glucocorticoid Deficiency Type 1

Preferred Label : Familial Glucocorticoid Deficiency Type 1;

NCIt related terms : GCCD1; ACTH Receptor Defect;

NCIt definition : Familial glucocorticoid deficiency caused by mutation(s) in the MC2R gene encoding the adrenocorticotropin (ACTH) receptor, also known as the melanocortin-2 receptor.;

Alternative definition : NICHD: A subtype of familial glucocorticoid deficiency caused by mutation(s) in the MC2R gene encoding the adrenocorticotropin (ACTH) receptor, also known as the melanocortin-2 receptor.;

Details

Origin ID

C123727;

UMLS CUI

C4049650;

Automatic exact mappings (from CISMeF team)
- Adrenocorticotropin receptor defect [HPO term]
- Glucocorticoid deficiency 1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glucocorticoid deficiency 1 [OMIM Phenotype]
- familial glucocorticoid deficiency [Disease (Nov.)]
- familial glucocorticoid deficiency 1 [MeSH Supplementary Concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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