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 |
5401911013 | X-linked intellectual disability, Wilson type is characterized by 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 localized to the 11p region of the X chromosome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401912018 | X-linked intellectual disability, Wilson type is characterised by 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 localised to the 11p region of the X chromosome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
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 |
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 |
5401911013 | X-linked intellectual disability, Wilson type is characterized by 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 localized to the 11p region of the X chromosome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401912018 | X-linked intellectual disability, Wilson type is characterised by 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 localised to the 11p region of the X chromosome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3408991001000117 | Intelligenzminderung, X-chromosomale, Typ Wilson | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
922811000172116 | déficience intellectuelle liée à l'X type Wilson | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
922811000172116 | déficience intellectuelle liée à l'X type Wilson | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3408991001000117 | Intelligenzminderung, X-chromosomale, Typ Wilson | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)