Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2023. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5239383014 | Dystonia 28 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5239384015 | DYT28 - dystonia 28 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5239385019 | Dystonia 28 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5239386018 | KMT2B-related dystonia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5239387010 | Lysine methyltransferase 2B-related dystonia | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 14403651000146116 | dystonie 28 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 14403661000146118 | dystonie 28 (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 14403671000146112 | DYT28 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 5239388017 | A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face and neck. Variable developmental delay and intellectual disability, along with mild microcephaly, short stature, abnormal eye movements and slightly dysmorphic facial features have been reported in association. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5239389013 | A rare persistent combined dystonia characterised by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalised dystonia with involvement of the upper limbs, trunk, face and neck. Variable developmental delay and intellectual disability, along with mild microcephaly, short stature, abnormal eye movements and slightly dysmorphic facial features have been reported in association. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Dystonia 28 | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Dystonia 28 | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Dystonia 28 | Is a | Generalized dystonia (disorder) | true | Inferred relationship | Some | ||
| Dystonia 28 | Is a | Chronic brain syndrome | true | Inferred relationship | Some | ||
| Dystonia 28 | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 1 | |
| Dystonia 28 | Interprets | Movement | true | Inferred relationship | Some | 3 | |
| Dystonia 28 | Finding site | Extrapyramidal system structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set
FHIR