Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3465159010 | Coenzyme A synthase protein associated neurodegeneration (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3465160017 | Coenzyme A synthase protein associated neurodegeneration | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3465161018 | COASY protein-associated neurodegeneration | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3465162013 | CoPAN - coenzyme A synthase protein associated neurodegeneration | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3465163015 | Neurodegeneration with brain iron accumulation due to COASY mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3465164014 | A very rare slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) with characteristics of classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder. The disease is caused by homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Coenzyme A synthase protein associated neurodegeneration (disorder) | Is a | Iron overload (disorder) | true | Inferred relationship | Some | ||
| Coenzyme A synthase protein associated neurodegeneration (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Coenzyme A synthase protein associated neurodegeneration (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Coenzyme A synthase protein associated neurodegeneration (disorder) | Causative agent | Iron AND/OR iron compound | false | Inferred relationship | Some | 1 | |
| Coenzyme A synthase protein associated neurodegeneration (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| Coenzyme A synthase protein associated neurodegeneration (disorder) | Causative agent | Iron and/or iron compound | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR