Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3431530019 | Lipodystrophy due to peptidic growth factors deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3431531015 | Lipodystrophy due to peptidic growth factors deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3431532010 | Combined insulin, insulin-like growth factor 1 and epidermal growth factor deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3431533017 | Hoepffner Dreyer Reimers syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3431534011 | Werner-like syndrome due to combined growth factor deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3431535012 | Syndrome that has characteristics of loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). The syndrome has been described in only one family with three affected siblings. Other clinical signs are joint contractures, reduced relative body weight, a bird-like facial appearance with a beaked nose, and micrognathia. One sibling also showed insulin-resistant diabetes mellitus. The syndrome is due to a combined decreased action of insulin, insulin-like growth factor I (IGF-1) and epidermal growth factor (EGF). The disease shows common clinical characteristics with Werner syndrome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Lipodystrophy due to peptidic growth factors deficiency (disorder) | Is a | Lipodystrophy | true | Inferred relationship | Some | ||
Lipodystrophy due to peptidic growth factors deficiency (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 2 | |
Lipodystrophy due to peptidic growth factors deficiency (disorder) | Finding site | Subcutaneous fatty tissue | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets