Status: current, Primitive. Date: 31-Dec 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5159417014 | Genetic non-syndromic obesity (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 5159418016 | Genetic non-syndromic obesity | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5159419012 | A rare genetic disease with characteristics of early-onset severe obesity due to mutations in single genes acting on the development and function of the hypothalamus or the leptin-melanocortin pathway, leading to disruption of energy homeostasis and endocrine dysfunction. Patients present with a body mass index over three standard deviations above normal at less than five years of age, accompanied by a variety of signs and symptoms according to the mutated gene, including hyperphagia, insulin resistance, reduced basal metabolic rate or hypogonadism among others. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Genetic non-syndromic obesity | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Genetic non-syndromic obesity | Interprets | Body weight measure | true | Inferred relationship | Some | 1 | |
| Genetic non-syndromic obesity | Has interpretation | Above reference range | true | Inferred relationship | Some | 1 | |
| Genetic non-syndromic obesity | Is a | Childhood obesity | true | Inferred relationship | Some | ||
| Genetic non-syndromic obesity | Occurrence | Childhood | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Congenital leptin deficiency | Is a | True | Genetic non-syndromic obesity | Inferred relationship | Some | |
| Obesity due to CEP19 deficiency | Is a | True | Genetic non-syndromic obesity | Inferred relationship | Some | |
| Severe early-onset obesity insulin resistance syndrome due to SH2B1 deficiency | Is a | True | Genetic non-syndromic obesity | Inferred relationship | Some | |
| Obesity due to SIM1 deficiency | Is a | True | Genetic non-syndromic obesity | Inferred relationship | Some |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR