Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3763701017 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 3763702012 | Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation (disorder) | en | Fully specified name | Active | Only initial character case insensitive | SNOMED CT core module |
| 3763703019 | Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation | Associated morphology | Hypoplasia | true | Inferred relationship | Existential restriction modifier | 2 | |
| Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 3 | |
| Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Existential restriction modifier | ||
| Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 3 | |
| Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
| Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation | Finding site | Cerebellar structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
| Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation | Is a | Cortical dysplasia | true | Inferred relationship | Existential restriction modifier | ||
| Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation | Is a | Congenital pontocerebellar hypoplasia | true | Inferred relationship | Existential restriction modifier | ||
| Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation | Associated morphology | Hypoplasia | true | Inferred relationship | Existential restriction modifier | 3 | |
| Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation | Associated morphology | Dysplasia | true | Inferred relationship | Existential restriction modifier | 1 | |
| Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation | Finding site | Structure of cerebral cortex | true | Inferred relationship | Existential restriction modifier | 1 | |
| Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation | Finding site | Pontine structure | true | Inferred relationship | Existential restriction modifier | 3 | |
| Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR