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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3308908016 Obesity due to melanocortin 4 receptor deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401549016 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401550016 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308907014 Obesity due to melanocortin 4 receptor deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3308907014 Obesity due to melanocortin 4 receptor deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308908016 Obesity due to melanocortin 4 receptor deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3308908016 Obesity due to melanocortin 4 receptor deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5401549016 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401550016 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3423131001000117 Adipositas durch Melanokortin-4 Rezeptor-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
907781000172110 obésité par déficit du récepteur de la mélanocortine 4 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
986181000172112 déficit en MC4R (melanocortin 4 receptor) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
907781000172110 obésité par déficit du récepteur de la mélanocortine 4 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
986181000172112 déficit en MC4R (melanocortin 4 receptor) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3423131001000117 Adipositas durch Melanokortin-4 Rezeptor-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Obesity due to melanocortin 4 receptor deficiency (disorder) Is a Hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Obesity due to melanocortin 4 receptor deficiency (disorder) Is a Obesity true Inferred relationship Existential restriction modifier (core metadata concept)
Obesity due to melanocortin 4 receptor deficiency (disorder) Has definitional manifestation Obese false Inferred relationship Existential restriction modifier (core metadata concept)
Obesity due to melanocortin 4 receptor deficiency (disorder) Interprets Measured body weight (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Obesity due to melanocortin 4 receptor deficiency (disorder) Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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