Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3704553011 | Cortical dysplasia with focal epilepsy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3704554017 | CDFE (cortical dysplasia focal epilepsy) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3704555016 | Cortical dysplasia with focal epilepsy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6708211000146112 | syndroom van corticale dysplasie en focale epilepsie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6708221000146119 | syndroom van corticale dysplasie en focale epilepsie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6708231000146117 | syndroom van corticale dysplasie en lokalisatiegebonden epilepsie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3704556015 | A rare genetic epilepsy characterized by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioral abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behavior, autistic features) and intellectual disability later in life. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3704557012 | A rare genetic epilepsy characterised by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioural abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behaviour, autistic features) and intellectual disability later in life. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| syndroom van corticale dysplasie en focale epilepsie | Finding site | Structure of cerebral cortex (body structure) | false | Inferred relationship | Some | 1 | |
| syndroom van corticale dysplasie en focale epilepsie | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| syndroom van corticale dysplasie en focale epilepsie | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
| syndroom van corticale dysplasie en focale epilepsie | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| syndroom van corticale dysplasie en focale epilepsie | Is a | Focal epilepsy | false | Inferred relationship | Some | ||
| syndroom van corticale dysplasie en focale epilepsie | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| syndroom van corticale dysplasie en focale epilepsie | Is a | Cortical dysplasia | false | Inferred relationship | Some | ||
| syndroom van corticale dysplasie en focale epilepsie | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| syndroom van corticale dysplasie en focale epilepsie | Associated morphology | Dysplasia | false | Inferred relationship | Some | 1 | |
| syndroom van corticale dysplasie en focale epilepsie | Is a | Developmental hereditary disorder | 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