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 |
| 3759929016 | Obesity due to SIM bHLH transcription factor 1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3759930014 | Obesity due to SIM1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3759931013 | Obesity due to SIM bHLH transcription factor 1 deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3759932018 | A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioral disorder, including autistic spectrum behavior, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3759933011 | A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioural disorder, including autistic spectrum behaviour, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4888211000172110 | obesitas door 'single-minded homolog 1'-deficiëntie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4888221000172117 | obesitas door deficiëntie van 'SIM bHLH transcription factor 1' | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4888231000172119 | obesitas door SIM1-deficiëntie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Obesity due to SIM1 deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Obesity due to SIM1 deficiency | Is a | Obesity by age of onset | false | Inferred relationship | Some | ||
| Obesity due to SIM1 deficiency | Is a | Severe obesity | true | Inferred relationship | Some | ||
| Obesity due to SIM1 deficiency | Occurrence | Infancy | false | Inferred relationship | Some | 1 | |
| Obesity due to SIM1 deficiency | Interprets | Body weight | false | Inferred relationship | Some | 2 | |
| Obesity due to SIM1 deficiency | Interprets | Body weight measure | true | Inferred relationship | Some | 3 | |
| Obesity due to SIM1 deficiency | Has interpretation | Above reference range | true | Inferred relationship | Some | 3 | |
| Obesity due to SIM1 deficiency | Is a | Genetic non-syndromic obesity (disorder) | true | Inferred relationship | Some | ||
| Obesity due to SIM1 deficiency | Occurrence | Childhood | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR