Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3643102014 | Short stature, wormian bones, dextrocardia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3643103016 | Short stature, wormian bones, dextrocardia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3643104010 | Stratton Parker syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3643101019 | A multiple congenital anomalies syndrome with characteristics of wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge and microstomia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4189021000052118 | syndrom med kortvuxenhet, suturben och dextrokardi | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Short stature, wormian bones, dextrocardia syndrome | Due to | Growth hormone deficiency (disorder) | true | Inferred relationship | Some | 2 | |
Short stature, wormian bones, dextrocardia syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Short stature, wormian bones, dextrocardia syndrome | Is a | Short stature disorder | true | Inferred relationship | Some | ||
Short stature, wormian bones, dextrocardia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Short stature, wormian bones, dextrocardia syndrome | Associated morphology | utvecklingsabnormitet | false | Inferred relationship | Some | 1 | |
Short stature, wormian bones, dextrocardia syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Short stature, wormian bones, dextrocardia syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Short stature, wormian bones, dextrocardia syndrome | Interprets | Height / growth measure | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets