obesitas door melanocortine-4-receptordeficiëntie (aandoening)
obesitas door melanocortine-4-receptordeficiëntie
obesitas door MC4-receptordeficiëntie
obesitas door MC4R-deficiëntie
Obesity due to melanocortin 4 receptor deficiency
Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterized by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinemia, in the presence of preserved reproductive function. MC4R is a G protein-coupled receptor involved in the hypothalamic leptin-melanocortin signalling pathway. Activation of the MC4R plays a key role in the maintenance of energy homeostasis and is associated with suppression of food intake.
SNOMED CT to Orphanet simple map71529
SNOMED CT to ICD-10 extended map
AdviceALWAYS E66.8
CorrelationSNOMED CT source code to target map code correlation not specified