Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3303690019 | Lissencephaly type 1 due to doublecortin gene mutation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3303691015 | X-linked lissencephaly type 1 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6138311000146119 | lissencefalie type 1 door DCX-mutatie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6138321000146112 | X-gebonden lissencefalie type 1 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6677151000146119 | lissencefalie type 1 door mutatie van 'doublecortin'-gen | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6677161000146116 | lissencefalie type 1 door mutatie van 'doublecortin'-gen (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Lissencephaly type 1 due to doublecortin gene mutation (disorder) | Is a | X-linked hereditary disease | true | Inferred relationship | Some | ||
| Lissencephaly type 1 due to doublecortin gene mutation (disorder) | Is a | Type 1 lissencephaly | true | Inferred relationship | Some | ||
| Lissencephaly type 1 due to doublecortin gene mutation (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Lissencephaly type 1 due to doublecortin gene mutation (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 2 | |
| Lissencephaly type 1 due to doublecortin gene mutation (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Lissencephaly type 1 due to doublecortin gene mutation (disorder) | Finding site | Structure of central nervous system (body structure) | false | Inferred relationship | Some | 2 | |
| Lissencephaly type 1 due to doublecortin gene mutation (disorder) | Associated morphology | congenitale anomalie (afwijkende morfologie) | false | Inferred relationship | Some | 3 | |
| Lissencephaly type 1 due to doublecortin gene mutation (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 3 | |
| Lissencephaly type 1 due to doublecortin gene mutation (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 1 | |
| Lissencephaly type 1 due to doublecortin gene mutation (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Lissencephaly type 1 due to doublecortin gene mutation (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Lissencephaly type 1 due to doublecortin gene mutation (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Lissencephaly type 1 due to doublecortin gene mutation (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR