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 |
| 3757576010 | Short stature due to partial growth hormone receptor deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3757577018 | Short stature due to partial growth hormone receptor deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3757578011 | Short stature due to partial GHR (growth hormone receptor) deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3757579015 | A rare genetic endocrine disease with characteristics of idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone. There is evidence the disease is caused by heterozygous mutation in the growth hormone receptor gene (GHR) on chromosome 5p13-p12. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5256751000172111 | kleine lichaamslengte door partiële GH-receptordeficiëntie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 5256761000172113 | kleine gestalte door partiële groeihormoonreceptordeficiëntie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Short stature due to partial growth hormone receptor deficiency | Is a | Short stature co-occurrent and due to endocrine disorder (disorder) | true | Inferred relationship | Some | ||
| Short stature due to partial growth hormone receptor deficiency | Due to | Partial growth hormone deficiency | true | Inferred relationship | Some | 2 | |
| Short stature due to partial growth hormone receptor deficiency | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Short stature due to partial growth hormone receptor deficiency | Finding site | Structure of endocrine system (body structure) | true | Inferred relationship | Some | 1 | |
| Short stature due to partial growth hormone receptor deficiency | Interprets | Height / growth measure | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR