717269008: Obesity due to melanocortin 4 receptor deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of observation of patient\Body measurement finding\Weight finding\High body weight\Obese\Obesity\Obesity due to melanocortin 4 receptor deficiency
• \Disease\Genetic disease\Hereditary disease\Obesity due to melanocortin 4 receptor deficiency
• \Disease\Obesity\Obesity due to melanocortin 4 receptor deficiency

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3308907014	Obesity due to melanocortin 4 receptor deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3308908016	Obesity due to melanocortin 4 receptor deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3308909012	Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency 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. 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.	en	Definition	Active	Case sensitive	SNOMED CT core
3308910019	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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