mineralocorticoid excess syndrome, apparent

Preferred Label : mineralocorticoid excess syndrome, apparent;

MeSH definition : A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS.;

MeSH synonym : apparent mineralocorticoid excess syndrome; Cortisol 11-beta-Ketoreductase Deficiency; 11-beta-Ketoreductase Deficiency, Cortisol; Cortisol 11 beta Ketoreductase Deficiency; Cortisol 11-beta-Ketoreductase Deficiencies; Deficiency, Cortisol 11-beta-Ketoreductase;

Wikipedia automatic translation : Same;

Wikipedia link : https://en.wikipedia.org/wiki/Same;

Details

Origin ID

D043204;

UMLS CUI

C0342488;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Apparent mineralocorticoid excess [MedDRA Preferred Term]
- Apparent mineralocorticoid excess [ICD-11 More detail]
- Apparent mineralocorticoid excess [ORDO Disease]
- Apparent mineralocorticoid excess [OMIM Phenotype]
- Apparent mineralocorticoid excess (disorder) [SNOMED CT concept]
CISMeF manual mappings
- Syndrome of apparent mineralocorticoid excess (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Apparent mineralocorticoid excess syndrome [PASCAL descriptor]
- Syndrome of Apparent Mineralocorticoid Excess [NCIt concept]
- apparent mineralocorticoid excess syndrome [DO Concept]
DO Cross reference
- apparent mineralocorticoid excess syndrome [DO Concept]
Manual NTBT mappings (CISMeF)
- Rare adrenal disease [ORDO Disease]
- Rare cause of hypertension [ORDO Disease]
- Rare genetic adrenal disease [ORDO Disease]
- Rare genetic cause of hypertension [ORDO Disease]
MeSH Descriptor(s) used for indexing
- 11-beta-Hydroxysteroid dehydrogenase type 2 [MeSH Descriptor]
ORDO relation(s)
- Apparent mineralocorticoid excess [ORDO Disease]
Record concept(s)
- mineralocorticoid excess syndrome, apparent [MeSH concept]
Related MeSH Supplementary Concept(s)
- apparent mineralocorticoid excess [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- mineralocorticoids [MeSH Descriptor]
See also inter- (CISMeF)
- 11 Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Apparent mineralocorticoid excess [OMIM Phenotype]
- Apparent mineralocorticoid excess [MedDRA Preferred Term]
- Apparent mineralocorticoid excess (disorder) [SNOMED CT concept]
- Apparent mineralocorticoid excess syndrome [PASCAL descriptor]
- Syndrome of Apparent Mineralocorticoid Excess [NCIt concept]
- Syndrome of apparent mineralocorticoid excess (disorder) [SNOMED CT concept]
- apparent mineralocorticoid excess syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

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