syndroom van schijnbare mineralocorticoïdovermaat (aandoening)
syndroom van schijnbare mineralocorticoïdovermaat
11βHSD type 2-deficiëntie
'apparent mineralocorticoid excess'-syndroom
deficiëntie van 11-bèta-hydroxysteroïddehydrogenase type 2
Syndrome of apparent mineralocorticoid excess
Apparent mineralocorticoid excess
AME - apparent mineralocorticoid excess
11-beta-hydroxysteroid dehydrogenase deficiency type 2
Ulick syndrome
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.
referentieset met complexe 'mapping' naar ICD-10
AdviceALWAYS E26.1
CorrelationSNOMED CT source code to target map code correlation not specified