Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3314655012 | X-linked intellectual disability Wilson type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3314656013 | X-linked intellectual disability Wilson type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
753381000241110 | déficience intellectuelle liée à l'X type Wilson (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
922811000172116 | déficience intellectuelle liée à l'X type Wilson | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3314657016 | This syndrome has characteristics of severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been located to the 11p region of the X chromosome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
X-linked intellectual disability Wilson type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
X-linked intellectual disability Wilson type (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
X-linked intellectual disability Wilson type (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
X-linked intellectual disability Wilson type (disorder) | est un(e) (attribut) | X-linked hereditary disease | true | Inferred relationship | Some | ||
X-linked intellectual disability Wilson type (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets