Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3304470010 | Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3304471014 | Goniodysgenesis with intellectual disability and short stature syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3304472019 | GMS syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3304473012 | Goniodysgenesis with mental deficiency and short stature | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5401210018 | GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Is a | Goniodysgenesis | true | Inferred relationship | Some | ||
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 2 | |
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Finding site | Structure of iridocorneal angle | false | Inferred relationship | Some | 2 | |
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Finding site | Anterior chamber of eye structure | false | Inferred relationship | Some | 3 | |
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Finding site | Anterior chamber of eye structure | false | Inferred relationship | Some | 1 | |
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Finding site | Structure of iridocorneal angle | true | Inferred relationship | Some | 1 | |
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 2 | |
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| Goniodysgenesis with intellectual disability and short stature syndrome (disorder) | Has interpretation | Impaired | 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