Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3766863017 | A rare genetic lissencephaly with cerebellar hypoplasia subtype with characteristics of the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3766860019 | Lissencephaly with cerebellar hypoplasia type E | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3766864011 | Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3766865012 | Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
A rare genetic lissencephaly with cerebellar hypoplasia subtype with characteristics of the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis. | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 1 | |
A rare genetic lissencephaly with cerebellar hypoplasia subtype with characteristics of the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
A rare genetic lissencephaly with cerebellar hypoplasia subtype with characteristics of the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis. | Is a | Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder) | true | Inferred relationship | Some | ||
A rare genetic lissencephaly with cerebellar hypoplasia subtype with characteristics of the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
A rare genetic lissencephaly with cerebellar hypoplasia subtype with characteristics of the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis. | Is a | Genetic disease | false | Inferred relationship | Some | ||
A rare genetic lissencephaly with cerebellar hypoplasia subtype with characteristics of the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis. | Finding site | Cerebellar structure | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets