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 |
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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403010017 | Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterized by neuropathological lesions principally involving the brainstem, thalamus and putamen. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403011018 | Familial acute necrotising encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Familial acute necrotising encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Familial acute necrotising encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen. | Is a | Uspecifikt hjernesyndrom | false | Inferred relationship | Some | ||
Familial acute necrotising encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen. | Is a | Familial disease (disorder) | true | Inferred relationship | Some | ||
Familial acute necrotising encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen. | Is a | Traumatic or nontraumatic brain injury | true | Inferred relationship | Some | ||
Familial acute necrotising encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen. | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Familial acute necrotising encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen. | Is a | Necrosis of anatomical site | true | Inferred relationship | Some | ||
Familial acute necrotising encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen. | Associated morphology | Acute necrosis | true | Inferred relationship | Some | 1 | |
Familial acute necrotising encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen. | Finding site | Brain structure | true | Inferred relationship | Some | 1 | |
Familial acute necrotising encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen. | Is a | Lesion of brain | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)