familial glucocorticoid deficiency 1

Preferred Label : familial glucocorticoid deficiency 1;

MeSH note : mutation in MC2R / ACTHR;

MeSH synonym : ACTH resistance; adrenal unresponsiveness to ACTH; glucocorticoid deficiency 1;

Details

Origin ID

C565974;

UMLS CUI

C4049650;

Automatic exact mappings (from CISMeF team)
- glucocorticoid deficiency 1 [DO Concept]
Currated CISMeF NLP mapping
- Familial glucocorticoid deficiency [ICD-11 More detail]
- Familial glucocorticoid deficiency [ORDO Disease]
- Glucocorticoid deficiency 1 [OMIM Phenotype]
- familial glucocorticoid deficiency [Disease (Nov.)]
MeSH term(s) associated for indexing
- adrenal insufficiency [MeSH Descriptor]
- steroid metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- familial glucocorticoid deficiency 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Glucocorticoid Deficiency Type 1 [NCIt concept]
- Glucocorticoid deficiency 1 [OMIM Phenotype]
- familial glucocorticoid deficiency [Disease (Nov.)]
Validated automatic mappings to NTBT
- Familial glucocorticoid deficiency (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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