Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2026. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 6156422017 | Coenzyme Q7, hydroxylase gene related distal hereditary motor neuropathy | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 6156423010 | COQ7 gene related distal hereditary motor neuropathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6156424016 | Coenzyme Q7, hydroxylase gene related distal hereditary motor neuropathy (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 6156425015 | A rare autosomal recessive distal hereditary motor neuropathy characterised by severe, slowly progressive, symmetric distal muscle weakness and atrophy of the limbs predominantly due to length-dependent peripheral motor neuropathy. Both the lower and upper limbs are affected, with a lower-limb predominance at onset. Patients present with walking difficulties and frequent falls. Pes cavus may also be present. Sensory abnormalities are usually absent, or mild when present. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6156426019 | A rare autosomal recessive distal hereditary motor neuropathy characterized by severe, slowly progressive, symmetric distal muscle weakness and atrophy of the limbs predominantly due to length-dependent peripheral motor neuropathy. Both the lower and upper limbs are affected, with a lower-limb predominance at onset. Patients present with walking difficulties and frequent falls. Pes cavus may also be present. Sensory abnormalities are usually absent, or mild when present. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| COQ7 gene related distal hereditary motor neuropathy | Is a | Autosomal recessive distal hereditary motor neuropathy (disorder) | true | Inferred relationship | Some | ||
| COQ7 gene related distal hereditary motor neuropathy | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| COQ7 gene related distal hereditary motor neuropathy | Is a | Chronic nervous system disorder (disorder) | true | Inferred relationship | Some | ||
| COQ7 gene related distal hereditary motor neuropathy | Is a | Chronic metabolic disorder | true | Inferred relationship | Some | ||
| COQ7 gene related distal hereditary motor neuropathy | Is a | Coenzyme Q10 deficiency (disorder) | true | Inferred relationship | Some | ||
| COQ7 gene related distal hereditary motor neuropathy | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 | |
| COQ7 gene related distal hereditary motor neuropathy | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| COQ7 gene related distal hereditary motor neuropathy | Finding site | Nerve structure | true | Inferred relationship | Some | 3 | |
| COQ7 gene related distal hereditary motor neuropathy | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR