Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4697288011 | Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4697289015 | Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5399768017 | A rare genetic endocrine disease characterized by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399769013 | A rare genetic endocrine disease characterised by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome | Is a | Diabetes mellitus associated with genetic syndrome | true | Inferred relationship | Some | ||
| Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome | Is a | Insulin resistance (disorder) | true | Inferred relationship | Some | ||
| Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome | Associated with | Genetic disease | true | Inferred relationship | Some | 3 | |
| Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome | Finding site | Structure of endocrine system (body structure) | true | Inferred relationship | Some | 2 | |
| Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome | Interprets | Body height measure (observable entity) | true | Inferred relationship | Some | 1 | |
| Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR