Status: current, Primitive. 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 | Initial character case insensitive | SNOMED CT core |
| 3736360017 | KCNQ2-related neonatal epileptic encephalopathy | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3736361018 | KCNQ2-NEE - potassium voltage-gated channel subfamily Q member 2-related neonatal epileptic encephalopathy | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3736362013 | KCNQ2-related epileptic encephalopathy | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3736363015 | Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy | en | Synonym | Active | Initial character case insensitive | 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 | Case sensitive | 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 | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| KCNQ2-related neonatal epileptic encephalopathy | Occurrence | Neonatal | true | Inferred relationship | Some | 1 | |
| KCNQ2-related neonatal epileptic encephalopathy | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| KCNQ2-related neonatal epileptic encephalopathy | Finding site | Structure of cerebrum | true | Inferred relationship | Some | 1 | |
| KCNQ2-related neonatal epileptic encephalopathy | Is a | Epileptic encephalopathy | true | Inferred relationship | Some | ||
| KCNQ2-related neonatal epileptic encephalopathy | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| KCNQ2-related neonatal epileptic encephalopathy | Is a | Neonatal disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Queensland allied health clinical finding reference set
Queensland allied health indicator for intervention reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR