Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3424224014 | Familial acute necrotizing encephalopathy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424225010 | Familial acute necrotizing encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424226011 | Familial acute necrotising encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424227019 | Recurrent acute necrotizing encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424228012 | Recurrent acute necrotising encephalopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424229016 | A potentially fatal neurological disease with characteristics of neuropathological lesions principally involving the brainstem, thalamus and putamen. It has been described in 11 members of one family. Onset occurs during early childhood, typically a few days after a febrile illness. Manifestations include vomiting, seizures, spasticity, language regression, rigidity and abnormal posturing of the head. Residual neurologic impairment (muscle weakness, speech disturbance, intellectual deficit and mood disorders) persists in some patients. The disease is chronic in one out of two cases. The mode of transmission appears to be autosomal dominant with incomplete penetrance. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Familial acute necrotizing encephalopathy (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Familial acute necrotizing encephalopathy (disorder) | Is a | Non-specific brain syndrome | false | Inferred relationship | Some | ||
| Familial acute necrotizing encephalopathy (disorder) | Is a | Familial disease | true | Inferred relationship | Some | ||
| Familial acute necrotizing encephalopathy (disorder) | Is a | Traumatic or nontraumatic brain injury | true | Inferred relationship | Some | ||
| Familial acute necrotizing encephalopathy (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Familial acute necrotizing encephalopathy (disorder) | Is a | Necrosis of anatomical site | true | Inferred relationship | Some | ||
| Familial acute necrotizing encephalopathy (disorder) | Associated morphology | Acute necrosis | true | Inferred relationship | Some | 1 | |
| Familial acute necrotizing encephalopathy (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 1 | |
| Familial acute necrotizing encephalopathy (disorder) | Is a | Lesion of brain | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR