Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3736359010 | Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3736360017 | KCNQ2-related neonatal epileptic encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3736361018 | KCNQ2-NEE - potassium voltage-gated channel subfamily Q member 2-related neonatal epileptic encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3736362013 | KCNQ2-related epileptic encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3736363015 | Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3736364014 | A severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. Caused by heterozygous mutation in the KCNQ2 gene on chromosome 20q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3736365010 | A severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behaviour, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. Caused by heterozygous mutation in the KCNQ2 gene on chromosome 20q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) | Occurrence | Neonatal | true | Inferred relationship | Some | 1 | |
| Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) | Finding site | Cerebrum | true | Inferred relationship | Some | 1 | |
| Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) | Is a | Epileptic encephalopathy (disorder) | true | Inferred relationship | Some | ||
| Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) | Is a | Neonatal disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR