Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3850118012 | Periventricular nodular heterotopia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3850119016 | Periventricular nodular heterotopia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3850120010 | PVNH - periventricular nodular heterotopia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3850121014 | A brain malformation due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical periventricular nodular heterotopia is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Periventricular nodular heterotopia | Is a | Nodular heterotopia | true | Inferred relationship | Some | ||
Periventricular nodular heterotopia | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Periventricular nodular heterotopia | Finding site | Brain tissue structure | false | Inferred relationship | Some | 1 | |
Periventricular nodular heterotopia | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Periventricular nodular heterotopia | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Periventricular nodular heterotopia | Associated morphology | Neuronal heterotopia (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Periventricular nodular heterotopia | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Periventricular nodular heterotopia | Finding site | Brain structure | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets