Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
377040019 | Nodular heterotopia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
643875016 | Nodular heterotopia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
1614341000005113 | Nodulær heterotopi | da | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Danish module (core metadata concept) |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Subependymal nodular heterotopia (disorder) | Is a | True | Nodular heterotopia (disorder) | Inferred relationship | Some | |
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. | Is a | True | Nodular heterotopia (disorder) | Inferred relationship | Some | |
Subcortical nodular heterotopia (disorder) | Is a | True | Nodular heterotopia (disorder) | Inferred relationship | Some |
This concept is not in any reference sets