Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3759339016 | A rare genetic form of obesity characterised by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinaemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behaviour. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3759340019 | A rare genetic form of obesity characterized by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behavior. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3759336011 | Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3759337019 | Severe early-onset obesity insulin resistance syndrome due to SH2B1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3759338012 | Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare genetic form of obesity characterised by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinaemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behaviour. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| A rare genetic form of obesity characterised by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinaemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behaviour. | Is a | Body mass index at or above 95th percentile as compared to children of the same age and sex | false | Inferred relationship | Some | ||
| A rare genetic form of obesity characterised by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinaemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behaviour. | Is a | Severe obesity | true | Inferred relationship | Some | ||
| A rare genetic form of obesity characterised by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinaemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behaviour. | Interprets | Body weight measure | true | Inferred relationship | Some | 2 | |
| A rare genetic form of obesity characterised by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinaemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behaviour. | Occurrence | Childhood | true | Inferred relationship | Some | 1 | |
| A rare genetic form of obesity characterised by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinaemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behaviour. | Has interpretation | Above reference range (qualifier value) | true | Inferred relationship | Some | 2 | |
| A rare genetic form of obesity characterised by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinaemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behaviour. | Is a | A rare genetic disease characterized by 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. | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR