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 | Reference Sets |
| 315601014 | Congenital malformation syndromes associated with short stature | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core | GB English: Preferred (foundation metadata concept) |
| 591227011 | Congenital malformation syndromes associated with short stature (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core | GB English: Preferred (foundation metadata concept) |
| 1166131000052119 | medfödda missbildningssyndrom i samband med kortväxthet | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) | Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital malformation syndromes associated with short stature | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Congenital malformation syndromes associated with short stature | Is a | Congenital malformation syndrome (disorder) | 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 | medfödd missbildning | false | 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 anomaly (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| Congenital malformation syndromes associated with short stature | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Congenital malformation syndromes associated with short stature | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital malformation syndromes associated with short stature | Interprets | Height / growth measure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| 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 | |
| Aarskog syndrome | Is a | True | Congenital malformation syndromes associated with short stature | Inferred relationship | Some | |
| Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) | Is a | True | 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 | |
| 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 (disorder) | 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 (disorder) | Is a | True | Congenital malformation syndromes associated with short stature | Inferred relationship | Some | |
| Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder) | 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 |
This concept is not in any reference sets
FHIR