Preferred Label : Obesity due to melanocortin-4 receptor deficiency;
ICD-11 definition : Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity
identified so far, and is characterised 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 hyperinsulinaemia, in the presence
of preserved reproductive function.;
ICD-11 synonym : MC4R - [melanocortin-4 receptor] deficiency; MC4R deficiency;
Origin ID : 132077929;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity
identified so far, and is characterised 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 hyperinsulinaemia, in the presence
of preserved reproductive function.
