Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 128959018 | Multiple malformation syndrome, moderate short stature, facial | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 128960011 | Multiple malformation syndrome, moderate short stature, facial with or without genital features, NOS | en | Synonym (core metadata concept) | Inactive | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 128961010 | Multiple malformation syndrome, moderate short stature, facial with or without genital features | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 818561014 | Multiple malformation syndrome, moderate short stature, facial (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Multiple malformation syndrome, moderate short stature, facial | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Multiple malformation syndrome, moderate short stature, facial | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Multiple malformation syndrome, moderate short stature, facial | Associated morphology | Congenital malformation | false | Inferred relationship | Some | ||
| Multiple malformation syndrome, moderate short stature, facial | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome, moderate short stature, facial | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome, moderate short stature, facial | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Multiple malformation syndrome, moderate short stature, facial | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Brachycephalic dwarfism | Is a | False | Multiple malformation syndrome, moderate short stature, facial | Inferred relationship | Some | |
| Aarskog syndrome | Is a | True | Multiple malformation syndrome, moderate short stature, facial | Inferred relationship | Some | |
| Dolichocephalic dwarfism | Is a | True | Multiple malformation syndrome, moderate short stature, facial | Inferred relationship | Some | |
| Smith-Lemli-Opitz syndrome | Is a | True | Multiple malformation syndrome, moderate short stature, facial | Inferred relationship | Some | |
| Williams syndrome | Is a | False | Multiple malformation syndrome, moderate short stature, facial | Inferred relationship | Some | |
| Robinow syndrome | Is a | False | Multiple malformation syndrome, moderate short stature, facial | Inferred relationship | Some | |
| Opitz-Frias syndrome | Is a | True | Multiple malformation syndrome, moderate short stature, facial | Inferred relationship | Some | |
| Noonan syndrome | Is a | False | Multiple malformation syndrome, moderate short stature, facial | Inferred relationship | Some | |
| Bovine achondroplasia | Is a | False | Multiple malformation syndrome, moderate short stature, facial | Inferred relationship | Some | |
| Noonan's syndrome | Is a | True | Multiple malformation syndrome, moderate short stature, facial | Inferred relationship | Some | |
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | Is a | True | Multiple malformation syndrome, moderate short stature, facial | Inferred relationship | Some | |
| Short stature with valvular heart disease and characteristic facies syndrome (disorder) | Is a | True | Multiple malformation syndrome, moderate short stature, facial | Inferred relationship | Some | |
| Robinow-like syndrome | Is a | False | Multiple malformation syndrome, moderate short stature, facial | Inferred relationship | Some | |
| Noonan syndrome-like disorder with loose anagen hair (disorder) | Is a | True | Multiple malformation syndrome, moderate short stature, facial | Inferred relationship | Some |
This concept is not in any reference sets
FHIR