Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3315136017 | X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3315137014 | X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 753561000241113 | syndrome de déficience intellectuelle liée à l'X-agénésie du corps calleux-quadriparésie spastique (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 929601000172114 | syndrome de déficience intellectuelle liée à l'X-agénésie du corps calleux-quadriparésie spastique | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3315138016 | This syndrome has characteristics of intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive. | 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 with corpus callosum agenesis and spastic quadriparesis syndrome (disorder) | localisation d'une constatation (attribut) | Entire corpus callosum | false | Inferred relationship | Some | 1 | |
| X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 1 | |
| X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome (disorder) | morphologie associée (attribut) | Agenesis (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome (disorder) | est un(e) (attribut) | agénésie du corps calleux (trouble) | false | Inferred relationship | Some | ||
| X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome (disorder) | est un(e) (attribut) | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome (disorder) | est un(e) (attribut) | tétraparésie spastique | false | Inferred relationship | Some | ||
| X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome (disorder) | localisation d'une constatation (attribut) | structure d'un membre | false | Inferred relationship | Some | 2 | |
| X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome (disorder) | morphologie associée (attribut) | Congenital absence | false | Inferred relationship | Some | 2 | |
| X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 2 | |
| X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome (disorder) | localisation d'une constatation (attribut) | Entire corpus callosum | false | Inferred relationship | Some | 2 | |
| X-linked intellectual disability with corpus callosum agenesis and spastic quadriparesis syndrome (disorder) | est un(e) (attribut) | Intellectual disability | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR