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 |
| 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 |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Obesity due to melanocortin 4 receptor deficiency (disorder) | Is a | Hereditary disease | true | Inferred relationship | Some | ||
| Obesity due to melanocortin 4 receptor deficiency (disorder) | Is a | Obesity (disorder) | true | Inferred relationship | Some | ||
| Obesity due to melanocortin 4 receptor deficiency (disorder) | Has definitional manifestation | Obese (finding) | false | Inferred relationship | Some | ||
| Obesity due to melanocortin 4 receptor deficiency (disorder) | Interprets | Body weight measure | true | Inferred relationship | Some | 1 | |
| Obesity due to melanocortin 4 receptor deficiency (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR