Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3686021011 | Hypermanganesemia with dystonia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3686022016 | Hypermanganesemia with dystonia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3686023014 | Familial manganese-induced neurotoxicity | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3686024015 | HMNDYT - hypermanganesemia with dystonia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3686027010 | An inherited disorder characterised by hypermanganesemia. Manganese accumulates in the region of the brain responsible for the coordination of movement causing dystonia and other uncontrolled movements. Two types of hypermanganesemia with dystonia have been identified; hypermanganesemia with dystonia, polycythaemia, and cirrhosis (HMDPC) and hypermanganesemia with dystonia 2 and they are distinguished by genetic cause and features. Inherited in an autosomal recessive pattern. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3686028017 | An inherited disorder characterized by hypermanganesemia. Manganese accumulates in the region of the brain responsible for the coordination of movement causing dystonia and other uncontrolled movements. Two types of hypermanganesemia with dystonia have been identified; hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC) and hypermanganesemia with dystonia 2 and they are distinguished by genetic cause and features. Inherited in an autosomal recessive pattern. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hypermanganesemia with dystonia (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Hypermanganesemia with dystonia (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hypermanganesemia with dystonia (disorder) | Is a | Disorder of manganese metabolism | true | Inferred relationship | Some | ||
| Hypermanganesemia with dystonia (disorder) | Finding site | Extrapyramidal system structure | true | Inferred relationship | Some | 1 | |
| Hypermanganesemia with dystonia (disorder) | Is a | Dystonia | true | Inferred relationship | Some | ||
| Hypermanganesemia with dystonia (disorder) | Interprets | Movement | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Hypermanganesemia with dystonia, polycythaemia, and cirrhosis | Is a | True | Hypermanganesemia with dystonia (disorder) | Inferred relationship | Some | |
| Hypermanganesemia with dystonia 2 (disorder) | Is a | True | Hypermanganesemia with dystonia (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR