Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3763690018 | Familial infantile myoclonus epilepsy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3763691019 | FIME - familial infantile myoclonic epilepsy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3763692014 | Familial infantile myoclonic epilepsy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3763693016 | Familial infantile myoclonic epilepsy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3763694010 | A rare genetic infantile epilepsy syndrome disease with characteristics of neonatal to infancy onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Familial infantile myoclonic epilepsy | Is a | Myoclonic seizure | false | Inferred relationship | Some | ||
Familial infantile myoclonic epilepsy | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Familial infantile myoclonic epilepsy | Finding site | Cerebrum | true | Inferred relationship | Some | 1 | |
Familial infantile myoclonic epilepsy | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Familial infantile myoclonic epilepsy | Occurrence | Infancy | true | Inferred relationship | Some | 1 | |
Familial infantile myoclonic epilepsy | Is a | Familial disease | true | Inferred relationship | Some | ||
Familial infantile myoclonic epilepsy | Interprets | Movement | false | Inferred relationship | Some | 2 | |
Familial infantile myoclonic epilepsy | Is a | Generalized epilepsy | false | Inferred relationship | Some | ||
Familial infantile myoclonic epilepsy | Is a | Epilepsy | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets