Glucocorticoid Resistance

Preferred Label : Glucocorticoid Resistance;

NCIt related terms : Generalized Glucocorticoid Resistance; Chrousos Syndrome;

NCIt definition : An autosomal dominant condition due to mutation(s) in the NR3C1 gene, encoding the glucocorticoid receptor, resulting in decreased receptor affinity to glucocorticoids. Compensatory activation of the hypothalamic- pituitary-adrenal (HPA) axis results in increased mineralocorticoid and androgen production; clinical manifestations of glucocorticoid deficiency are rare.;

Alternative definition : NICHD: An autosomal dominant condition due to mutation(s) in the NR3C1 gene, encoding the glucocorticoid receptor, resulting in decreased receptor affinity to glucocorticoids. Compensatory activation of the hypothalamic- pituitary-adrenal (HPA) axis, resulting in increased mineralocorticoid and androgen production; clinical manifestations of glucocorticoid deficiency are rare.;

Details

Origin ID

C126809;

UMLS CUI

C1841972;

Automatic exact mappings (from CISMeF team)
- Generalized glucocorticoid resistance syndrome [ORDO Disease]
- Glucocorticoid resistance [ICD-11 Sub-sub category]
- Glucocorticoid resistance, generalized [OMIM Phenotype]
- glucocorticoid receptor deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Generalized glucocorticoid resistance syndrome [ORDO Disease]
- Glucocorticoid resistance, generalized [OMIM Phenotype]
- glucocorticoid receptor deficiency [MeSH Supplementary Concept]
- glucocorticoid receptor deficiency [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
related_to_genetic_biomarker
- NR3C1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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