Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4675715014 | Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4675716010 | Autosomal recessive spinocerebellar ataxia type 21 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4675717018 | Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5399678011 | A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399679015 | A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterised by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) | Is a | Spinocerebellar ataxia | true | Inferred relationship | Some | ||
| Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) | Is a | Acute hepatic failure (disorder) | true | Inferred relationship | Some | ||
| Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) | Is a | Hereditary peripheral neuropathy | true | Inferred relationship | Some | ||
| Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 4 | |
| Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) | Occurrence | Infancy | true | Inferred relationship | Some | 3 | |
| Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) | Finding site | Structure of parenchyma of liver | true | Inferred relationship | Some | 3 | |
| Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) | Finding site | Cerebellar structure | true | Inferred relationship | Some | 1 | |
| Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
| Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) | Finding site | Spinal cord structure | true | Inferred relationship | Some | 2 | |
| Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 2 | |
| Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) | Is a | Acute nervous system disorder | false | Inferred relationship | Some | ||
| Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) | Clinical course | Sudden onset AND/OR short duration (qualifier value) | true | Inferred relationship | Some | 5 | |
| Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder) | Is a | Acute myelopathy (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR