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 |
| 3642768011 | Autosomal recessive distal spinal muscular atrophy type 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3642769015 | Distal hereditary motor neuropathy Jerash type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3642770019 | Distal hereditary motor neuropathy Jerash type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3642771015 | A rare genetic neuromuscular disease characterised by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammertoes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilises. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3642772010 | A rare genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammertoes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Distal hereditary motor neuropathy Jerash type | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Distal hereditary motor neuropathy Jerash type | Is a | Distal spinal muscular atrophy | false | Inferred relationship | Some | ||
| Distal hereditary motor neuropathy Jerash type | Finding site | Structure of nervous system (body structure) | false | Inferred relationship | Some | 1 | |
| Distal hereditary motor neuropathy Jerash type | Is a | Autosomal recessive distal hereditary motor neuropathy (disorder) | true | Inferred relationship | Some | ||
| Distal hereditary motor neuropathy Jerash type | Finding site | Nerve structure | true | Inferred relationship | Some | 2 | |
| Distal hereditary motor neuropathy Jerash type | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR