Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 315601014 | Congenital malformation syndromes associated with short stature | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 591227011 | Congenital malformation syndromes associated with short stature (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital malformation syndromes associated with short stature | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| Congenital malformation syndromes associated with short stature | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital malformation syndromes associated with short stature | Interprets | Height / growth measure | true | Inferred relationship | Some | 2 | |
| Congenital malformation syndromes associated with short stature | Is a | Congenital malformation syndrome | true | Inferred relationship | Some | ||
| Congenital malformation syndromes associated with short stature | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Congenital malformation syndromes associated with short stature | Associated morphology | Congenital malformation | false | Inferred relationship | Some | ||
| Congenital malformation syndromes associated with short stature | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Congenital malformation syndromes associated with short stature | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital malformation syndromes associated with short stature | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Mesomelic dysplasia | Is a | True | Congenital malformation syndromes associated with short stature | Inferred relationship | Some | |
| Metaphyseal chondrodysplasia | Is a | True | Congenital malformation syndromes associated with short stature | Inferred relationship | Some | |
| Diastrophic dysplasia | Is a | False | Congenital malformation syndromes associated with short stature | Inferred relationship | Some | |
| Achondrogenesis | Is a | True | Congenital malformation syndromes associated with short stature | Inferred relationship | Some | |
| Hypochondroplasia | Is a | True | Congenital malformation syndromes associated with short stature | Inferred relationship | Some | |
| Metatropic dysplasia | Is a | True | Congenital malformation syndromes associated with short stature | Inferred relationship | Some | |
| Absent thumb with short stature and immunodeficiency syndrome | Is a | True | Congenital malformation syndromes associated with short stature | Inferred relationship | Some | |
| KBG syndrome | Is a | True | Congenital malformation syndromes associated with short stature | Inferred relationship | Some | |
| Brachyolmia | Is a | True | Congenital malformation syndromes associated with short stature | Inferred relationship | Some | |
| Aarskog syndrome | Is a | True | Congenital malformation syndromes associated with short stature | Inferred relationship | Some | |
| Multiple malformation syndrome, small stature, without skeletal dysplasia | Is a | True | Congenital malformation syndromes associated with short stature | Inferred relationship | Some | |
| Aarskog syndrome | Is a | False | Congenital malformation syndromes associated with short stature | Inferred relationship | Some | |
| Congenital malformation syndrome associated with short stature NOS | Is a | False | Congenital malformation syndromes associated with short stature | Inferred relationship | Some | |
| Kabuki make-up syndrome | Is a | True | Congenital malformation syndromes associated with short stature | Inferred relationship | Some |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR