| syndroom van schijnbare mineralocorticoïdovermaat (aandoening) | | syndroom van schijnbare mineralocorticoïdovermaat | | 'apparent mineralocorticoid excess'-syndroom
deficiëntie van 11-bèta-hydroxysteroïddehydrogenase type 2
11βHSD type 2-deficiëntie
AME-syndroom
| | Syndrome of apparent mineralocorticoid excess | | AME - apparent mineralocorticoid excess
11-beta-hydroxysteroid dehydrogenase deficiency type 2
Ulick syndrome
Apparent mineralocorticoid excess
| | A rare form of pseudohyperaldosteronism with characteristics of very early-onset and severe hypertension associated with low renin levels and hypoaldosteronism. Caused by homozygous or compound heterozygous loss-of-function mutations or deletions in the HSD11B2 gene (16q22). In all cases, these mutations lead to abolition or a marked decrease in the activity of 11-beta-hydroxysteroid dehydrogenase type 2 (11-beta-HSD2), an enzyme involved in the conversion of cortisol to cortisone. Transmission is autosomal recessive. |
| | Id | 237770005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E26.1 | | Term | Secundair hyperaldosteronisme |
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| SNOMED CT to Orphanet simple map | 320 |
| SNOMED CT to ICD-10 extended map | | Target | E26.1 | | Rule | TRUE | | Advice | ALWAYS E26.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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