Autosomal recessive hereditary disorder	Disorder of cortisol-cortisone shuttle	Hereditary disorder of endocrine system	Hereditary metabolic disease
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Syndrome of apparent mineralocorticoid excess (disorder)
	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.
	syndroom van schijnbare mineralocorticoïdovermaat
	11βHSD type 2-deficiëntie AME-syndroom 'apparent mineralocorticoid excess'-syndroom deficiëntie van 11-bèta-hydroxysteroïddehydrogenase type 2

Id	237770005
Status	Primitive

Finding site

Adrenal structure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	E26.1
Rule	TRUE
Advice	ALWAYS E26.1
Correlation	SNOMED CT source code to target map code correlation not specified