Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4603877012 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | en | Synonym | Active | Case insensitive | SNOMED CT core |
4603878019 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
4603879010 | A rare genetic neurodegenerative disease with characteristics of childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | Is a | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | Is a | Extrapyramidal disease | true | Inferred relationship | Some | ||
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | Clinical course | Progressive | true | Inferred relationship | Some | 3 | |
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | Interprets | Movement | true | Inferred relationship | Some | 4 | |
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | Occurrence | Childhood | true | Inferred relationship | Some | 1 | |
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | Finding site | Brain structure | true | Inferred relationship | Some | 1 | |
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | Occurrence | Childhood | true | Inferred relationship | Some | 2 | |
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | Finding site | Extrapyramidal system structure | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set