Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3768151015 | Obesity due to leptin receptor gene deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
3768152010 | Obesity due to leptin receptor gene deficiency (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
4304326012 | A rare genetic non-syndromic obesity disease with characteristics of severe early-onset obesity associated with major hyperphagia and endocrine abnormalities resulting from leptin receptor deficiency. Caused by homozygous mutation in the gene encoding the leptin receptor (LEPR) on chromosome 1p31. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Obesity due to leptin receptor gene deficiency | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
Obesity due to leptin receptor gene deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Obesity due to leptin receptor gene deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Obesity due to leptin receptor gene deficiency | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Obesity due to leptin receptor gene deficiency | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Obesity due to leptin receptor gene deficiency | Finding site | Structure of distal part of pituitary | true | Inferred relationship | Some | 2 | |
Obesity due to leptin receptor gene deficiency | Finding site | Gonadal endocrine structure | true | Inferred relationship | Some | 1 | |
Obesity due to leptin receptor gene deficiency | Is a | Hereditary disorder of endocrine system | true | Inferred relationship | Some | ||
Obesity due to leptin receptor gene deficiency | Is a | Congenital hypogonadotropic hypogonadism | true | Inferred relationship | Some | ||
Obesity due to leptin receptor gene deficiency | Is a | Severe obesity | true | Inferred relationship | Some | ||
Obesity due to leptin receptor gene deficiency | Interprets | Body weight measure | true | Inferred relationship | Some | 3 | |
Obesity due to leptin receptor gene deficiency | Has interpretation | Above reference range | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set