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 |
| 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 |
| 3324413013 | An infantile-onset neurometabolic disease with characteristics of dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. The prevalence is unknown. It has been described in 8 patients from one Saudi Arabian family to date. Caused by a mutation in the SLC18A2 gene (10q25), encoding the vesicular monoamine transporter 2 (VMAT2) which is responsible for the transport of dopamine and serotonin into synaptic vesicles. Mutations in this gene lead to the impairment of VMAT2 and consequently to problems with motor control, autonomic functioning and mood regulation. It is inherited in an autosomal recessive manner. | en | Definition | Active | Entire term case sensitive (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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Brain dopamine-serotonin vesicular transport disease (disorder) | Is a | Dystonia | true | Inferred relationship | Some | ||
| Brain dopamine-serotonin vesicular transport disease (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Brain dopamine-serotonin vesicular transport disease (disorder) | Is a | Metabolic disorder of transport | true | Inferred relationship | Some | ||
| Brain dopamine-serotonin vesicular transport disease (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Brain dopamine-serotonin vesicular transport disease (disorder) | Finding site | Extrapyramidal system structure | true | Inferred relationship | Some | 1 | |
| Brain dopamine-serotonin vesicular transport disease (disorder) | Interprets | Movement | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR