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 |
| 3333387019 | Infantile dystonia parkinsonism (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3333388012 | Dopamine transporter deficiency syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3333389016 | Infantile dystonia parkinsonism | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3333390013 | Parkinsonism-dystonia infantile | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3333391012 | An extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal. The prevalence is unknown. The disease presents soon after birth with irritability and feeding difficulties, followed by progressive parkinsonism, dystonia, axial hypotonia, limb hypertonicity and pyramidal tract signs. Clinically it can resemble cerebral palsy. Caused by mutations in the SLC6A3 gene (5p15.33), which encodes a human dopamine transporter mediating the active reuptake of extracelluar dopamine. Mutations in this gene lead to a reduction in the level of mature dopamine transporter and therefore an impairment in dopaminergic neurotransmission. Inherited in an autosomal recessive manner. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 7773031000172115 | déficit du transport vésiculaire cérébral de la dopamine | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 7773041000172110 | IPD - infantile dystonia parkinsonism | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4854621000172119 | infantiele dystonie met parkinsonisme | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Infantile dystonia parkinsonism (disorder) | Is a | Dystonia | true | Inferred relationship | Some | ||
| Infantile dystonia parkinsonism (disorder) | Is a | Parkinsonism | true | Inferred relationship | Some | ||
| Infantile dystonia parkinsonism (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Infantile dystonia parkinsonism (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Infantile dystonia parkinsonism (disorder) | Occurrence | Infancy | true | Inferred relationship | Some | 1 | |
| Infantile dystonia parkinsonism (disorder) | Finding site | Basal ganglion structure (body structure) | true | Inferred relationship | Some | 1 | |
| Infantile dystonia parkinsonism (disorder) | Interprets | Movement | true | Inferred relationship | Some | 3 | |
| Infantile dystonia parkinsonism (disorder) | Has interpretation | Slow | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR