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 |
| 6956811000146113 | X-gebonden syndroom van mentale retardatie, agenesie van corpus callosum en spastische tetraparese | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7495731000146114 | X-gebonden syndroom van verstandelijke beperking, agenesie van corpus callosum en spastische tetraparese (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7719401000146119 | X-gebonden syndroom van verstandelijke beperking, agenesie van corpus callosum en spastische tetraparese | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7797251000146111 | X-gebonden syndroom van verstandelijke handicap, agenesie van corpus callosum en spastische quadriparese | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained 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-gebonden syndroom van verstandelijke beperking, agenesie van corpus callosum en spastische tetraparese (aandoening) | Is a | Agenesis of corpus callosum | false | Inferred relationship | Some | ||
| X-gebonden syndroom van verstandelijke beperking, agenesie van corpus callosum en spastische tetraparese (aandoening) | Is a | mentale retardatie | false | Inferred relationship | Some | ||
| X-gebonden syndroom van verstandelijke beperking, agenesie van corpus callosum en spastische tetraparese (aandoening) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-gebonden syndroom van verstandelijke beperking, agenesie van corpus callosum en spastische tetraparese (aandoening) | Is a | Spastic quadriparesis (disorder) | false | Inferred relationship | Some | ||
| X-gebonden syndroom van verstandelijke beperking, agenesie van corpus callosum en spastische tetraparese (aandoening) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| X-gebonden syndroom van verstandelijke beperking, agenesie van corpus callosum en spastische tetraparese (aandoening) | Finding site | Limb structure | false | Inferred relationship | Some | 2 | |
| X-gebonden syndroom van verstandelijke beperking, agenesie van corpus callosum en spastische tetraparese (aandoening) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
| X-gebonden syndroom van verstandelijke beperking, agenesie van corpus callosum en spastische tetraparese (aandoening) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| X-gebonden syndroom van verstandelijke beperking, agenesie van corpus callosum en spastische tetraparese (aandoening) | Finding site | Entire corpus callosum | false | Inferred relationship | Some | 2 | |
| X-gebonden syndroom van verstandelijke beperking, agenesie van corpus callosum en spastische tetraparese (aandoening) | Is a | Intellectual disability | false | Inferred relationship | Some | ||
| X-gebonden syndroom van verstandelijke beperking, agenesie van corpus callosum en spastische tetraparese (aandoening) | Finding site | Entire corpus callosum | false | Inferred relationship | Some | 1 | |
| X-gebonden syndroom van verstandelijke beperking, agenesie van corpus callosum en spastische tetraparese (aandoening) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| X-gebonden syndroom van verstandelijke beperking, agenesie van corpus callosum en spastische tetraparese (aandoening) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| X-gebonden syndroom van verstandelijke beperking, agenesie van corpus callosum en spastische tetraparese (aandoening) | Associated morphology | Agenesis (morphologic abnormality) | false | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR