Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5401644016 | A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401645015 | A rare infantile onset neurometabolic disease characterised by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3324411010 | Brain dopamine-serotonin vesicular transport disease (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3324412015 | Brain dopamine-serotonin vesicular transport disease | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
999811000172115 | déficit du transport vésiculaire cérébral de la dopamine et de la sérotonine | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
2355151000195119 | Krankheit des zerebralen vesikulären Dopamin-Serotonin-Transportes | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3422291001000118 | Störung des zerebralen vesikulären Dopamin-Serotonin-Transportes | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. | Is a | Dystonia | true | Inferred relationship | Some | ||
A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. | Is a | Metabolic disorder of transport | true | Inferred relationship | Some | ||
A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. | Finding site | Extrapyramidal system structure (body structure) | true | Inferred relationship | Some | 1 | |
A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. | Interprets | mouvement | false | Inferred relationship | Some | 2 | |
A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. | Interprets | Movement observable | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)