Status: current, Primitive. 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 | Case insensitive | SNOMED CT core |
3424225010 | Familial acute necrotizing encephalopathy | en | Synonym | Active | Case insensitive | SNOMED CT core |
3424226011 | Familial acute necrotising encephalopathy | en | Synonym | Active | Case insensitive | SNOMED CT core |
3424227019 | Recurrent acute necrotizing encephalopathy | en | Synonym | Active | Case insensitive | SNOMED CT core |
3424228012 | Recurrent acute necrotising encephalopathy | en | Synonym | Active | Case insensitive | 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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Familial acute necrotising encephalopathy | Is a | Lesion of brain | true | Inferred relationship | Some | ||
Familial acute necrotising encephalopathy | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Familial acute necrotising encephalopathy | Is a | Non-specific brain syndrome | false | Inferred relationship | Some | ||
Familial acute necrotising encephalopathy | Is a | Familial disease | true | Inferred relationship | Some | ||
Familial acute necrotising encephalopathy | Is a | Traumatic or nontraumatic brain injury | true | Inferred relationship | Some | ||
Familial acute necrotising encephalopathy | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Familial acute necrotising encephalopathy | Is a | Necrosis of anatomical site | true | Inferred relationship | Some | ||
Familial acute necrotising encephalopathy | Associated morphology | Acute necrosis | true | Inferred relationship | Some | 1 | |
Familial acute necrotising encephalopathy | Finding site | Brain structure | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set