Familial glucocorticoid deficiency

Preferred Label : Familial glucocorticoid deficiency;

ICD-11 definition : Familial Glucocorticoid Deficiency (FGD) syndrome is a genetic adrenal insufficiency without mineralocorticoid deficiency presenting with recurrent hypoglycemia (triggered, for example, by infectious episodes) that may lead to convulsions or even coma, chronic asthenia, frequent infections, susceptibility to allergies, and usually skin pigmentation.;

ICD-11 synonym : ACTH - [adrenocorticotropic hormone] resistance; ACTH resistance; Hereditary glucocorticoid deficiency;

Details

Origin ID

861297039;

Automatic exact mappings (from CISMeF team)
- Familial glucocorticoid deficiency [MedDRA Preferred Term]
- adrenocorticotropic hormone [MeSH Descriptor]
- familial glucocorticoid deficiency [DO Concept]
Currated CISMeF NLP mapping
- Familial glucocorticoid deficiency [ORDO Disease]
- Familial glucocorticoid deficiency (disorder) [SNOMED CT concept]
- Glucocorticoid deficiency 1 [OMIM Phenotype]
- Isolated Glucocorticoid Deficiency [NCIt concept]
- familial glucocorticoid deficiency [Disease (Nov.)]
- familial glucocorticoid deficiency 1 [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Corticotropin [LOINC component]

Keyword's position in hierarchy(ies) :

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