Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3662719015 | Short stature due to GHSR (growth hormone secretagogue receptor) deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3662720014 | Short stature due to growth hormone secretagogue receptor deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3662721013 | Short stature due to growth hormone secretagogue receptor deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3662722018 | Short stature due to GHSR deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3662723011 | Ghrelin receptor deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5404669017 | Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404670016 | Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterised by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Short stature due to growth hormone secretagogue receptor deficiency | Due to | Hypopituitarism | true | Inferred relationship | Some | 2 | |
| Short stature due to growth hormone secretagogue receptor deficiency | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Short stature due to growth hormone secretagogue receptor deficiency | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Short stature due to growth hormone secretagogue receptor deficiency | Is a | Short stature co-occurrent and due to endocrine disorder (disorder) | true | Inferred relationship | Some | ||
| Short stature due to growth hormone secretagogue receptor deficiency | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
| Short stature due to growth hormone secretagogue receptor deficiency | Finding site | Structure of endocrine system (body structure) | true | Inferred relationship | Some | 1 | |
| Short stature due to growth hormone secretagogue receptor deficiency | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Short stature due to growth hormone secretagogue receptor deficiency | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Short stature due to growth hormone secretagogue receptor deficiency | Interprets | Height / growth measure | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR