Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3498458015 | Lambert syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3498459011 | Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498460018 | Branchial dysplasia, intellectual disability, inguinal hernia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3499928011 | A very rare syndrome described in four siblings of one French family and with characteristics of branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal hernia and cholestasis due to paucity of interlobular bile ducts and intellectual deficit. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3956191000052116 | syndrom med gälbågsdysplasi, intellektuell funktionsnedsättning och ljumskbråck | 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 |
| Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) | Is a | mental retardation | false | Inferred relationship | Some | ||
| Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) | Is a | Developmental malformation of branchial arch (disorder) | true | Inferred relationship | Some | ||
| Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 1 | |
| Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) | Finding site | Branchial arch structure | true | Inferred relationship | Some | 1 | |
| Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR