Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3303689011 | Lissencephaly type 1 due to doublecortin gene mutation (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3303690019 | Lissencephaly type 1 due to doublecortin gene mutation | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3303691015 | X-linked lissencephaly type 1 | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 4611838012 | A semi-dominant X-linked disease with intellectual deficiency and seizures that is more severe in male patients. Boys presenting with lissencephaly show an abnormally thick cortex with very few gyri (pachygyria) or even none (agyria). Clinical manifestations include swallowing and feeding difficulties, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe malformation referred to as doublecortex or subcortical laminar heterotopia and present with clinical signs of variable severity ranging from mild epilepsy to refractory epileptic seizures and severe intellectual deficiency. The condition is caused by doublecortin (DCX, located at Xq22.3-q23) gene mutations. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Lissencephaly type 1 due to doublecortin gene mutation | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| Lissencephaly type 1 due to doublecortin gene mutation | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Lissencephaly type 1 due to doublecortin gene mutation | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Lissencephaly type 1 due to doublecortin gene mutation | Is a | X-linked hereditary disease | true | Inferred relationship | Some | ||
| Lissencephaly type 1 due to doublecortin gene mutation | Is a | Type 1 lissencephaly | true | Inferred relationship | Some | ||
| Lissencephaly type 1 due to doublecortin gene mutation | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Lissencephaly type 1 due to doublecortin gene mutation | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 2 | |
| Lissencephaly type 1 due to doublecortin gene mutation | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Lissencephaly type 1 due to doublecortin gene mutation | Finding site | Structure of central nervous system | false | Inferred relationship | Some | 2 | |
| Lissencephaly type 1 due to doublecortin gene mutation | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 3 | |
| Lissencephaly type 1 due to doublecortin gene mutation | Finding site | Brain structure | false | Inferred relationship | Some | 3 | |
| Lissencephaly type 1 due to doublecortin gene mutation | Finding site | Brain structure | true | Inferred relationship | Some | 1 | |
| Lissencephaly type 1 due to doublecortin gene mutation | Occurrence | Congenital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR