Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2015. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3047531014 | Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3047532019 | KBG syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 5155227012 | Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 5155228019 | Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome | Is a | Congenital malformation | false | Inferred relationship | Existential restriction modifier | ||
| Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Existential restriction modifier | 1 | |
| Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome | Is a | Multisystem disorder | false | Inferred relationship | Existential restriction modifier | ||
| Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome | Is a | Congenital malformation syndromes associated with short stature | true | Inferred relationship | Existential restriction modifier | ||
| Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome | Interprets | Height / growth measure | true | Inferred relationship | Existential restriction modifier | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR