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 |
| 748561000241117 | lissencéphalie type 1 due aux anomalies du gène double-cortine (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 941121000172110 | lissencéphalie type 1 liée à l'X | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 963871000172114 | lissencéphalie type 1 due aux anomalies du gène double-cortine | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation 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) | morphologie associée (attribut) | structure anormale sur le plan morphologique | 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) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Lissencephaly type 1 due to doublecortin gene mutation (disorder) | est un(e) (attribut) | X-linked hereditary disease | true | Inferred relationship | Some | ||
| Lissencephaly type 1 due to doublecortin gene mutation (disorder) | est un(e) (attribut) | Type 1 lissencephaly | true | Inferred relationship | Some | ||
| Lissencephaly type 1 due to doublecortin gene mutation (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Lissencephaly type 1 due to doublecortin gene mutation (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 2 | |
| Lissencephaly type 1 due to doublecortin gene mutation (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 2 | |
| Lissencephaly type 1 due to doublecortin gene mutation (disorder) | localisation d'une constatation (attribut) | Structure of central nervous system (body structure) | false | Inferred relationship | Some | 2 | |
| Lissencephaly type 1 due to doublecortin gene mutation (disorder) | morphologie associée (attribut) | Congenital anomaly | false | Inferred relationship | Some | 3 | |
| Lissencephaly type 1 due to doublecortin gene mutation (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 3 | |
| Lissencephaly type 1 due to doublecortin gene mutation (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | true | Inferred relationship | Some | 1 | |
| Lissencephaly type 1 due to doublecortin gene mutation (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR