Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3644780016 | Pachygyria, intellectual disability, epilepsy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3644781017 | Pachygyria, intellectual disability, epilepsy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3644782012 | Kuzniecky syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5404240017 | A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5404241018 | A rare, genetic neurological disorder characterised by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalised tonic-clonic) and, on occasion, headache are also associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Is a | Macrogyria | true | Inferred relationship | Some | ||
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Is a | Arachnoid cyst | true | Inferred relationship | Some | ||
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Is a | Seizure disorder | true | Inferred relationship | Some | ||
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Finding site | Arachnoid structure | true | Inferred relationship | Some | 2 | |
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Associated morphology | Congenital enlargement | false | Inferred relationship | Some | 2 | |
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Finding site | Structure of cerebral gyrus (body structure) | false | Inferred relationship | Some | 2 | |
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Associated morphology | Cyst | false | Inferred relationship | Some | 1 | |
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Finding site | Arachnoid structure | false | Inferred relationship | Some | 1 | |
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Finding site | Structure of cerebral gyrus (body structure) | true | Inferred relationship | Some | 1 | |
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Is a | Congenital malformation of the meninges | true | Inferred relationship | Some | ||
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Associated morphology | Arachnoid cyst | true | Inferred relationship | Some | 2 | |
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Associated morphology | Enlargement (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
Pachygyria, intellectual disability, epilepsy syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)