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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408822015 | A rare non-syndromic cerebral malformation due to abnormal neuronal migration characterized by clusters of disorganized neurons in abnormal locations such as periventricular and subcortical. The extent of the lesions ranges from isolated single to bilateral confluent nodules. Pediatric patients typically show variable degrees of developmental delay, intellectual disability, and intractable epilepsy, and concomitant cerebral and/or systemic malformations are frequent. Milder forms may present with onset of seizures in adulthood. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5408823013 | A rare non-syndromic cerebral malformation due to abnormal neuronal migration characterised by clusters of disorganised neurons in abnormal locations such as periventricular and subcortical. The extent of the lesions ranges from isolated single to bilateral confluent nodules. Paediatric patients typically show variable degrees of developmental delay, intellectual disability, and intractable epilepsy, and concomitant cerebral and/or systemic malformations are frequent. Milder forms may present with onset of seizures in adulthood. | 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR