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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
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) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 1 | |
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) | est un(e) (attribut) | Developmental malformation of branchial arch (disorder) | true | Inferred relationship | Some | ||
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) | localisation d'une constatation (attribut) | Branchial arch structure | true | Inferred relationship | Some | 1 | |
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)