Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3047530010 | Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3047531014 | Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3047532019 | KBG syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder) | est un(e) (attribut) | Congenital malformation syndromes associated with short stature | true | Inferred relationship | Some | ||
| Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 2 | |
| Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder) | est un(e) (attribut) | Congenital malformation | false | Inferred relationship | Some | ||
| Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 1 | |
| Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder) | est un(e) (attribut) | Multisystem disorder (disorder) | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR