Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3706376010 | Young adult-onset distal hereditary motor neuropathy | en | Synonym | Active | Case insensitive | SNOMED CT core |
3706377018 | Autosomal recessive distal spinal muscular atrophy type 5 | en | Synonym | Active | Case insensitive | SNOMED CT core |
3706378011 | Young adult-onset distal hereditary motor neuropathy (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3706379015 | A rare autosomal recessive distal hereditary motor neuropathy with characteristics of slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared. There is evidence this disease is caused by homozygous mutation in the DNAJB2 gene on chromosome 2q35. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Young adult-onset distal hereditary motor neuropathy | Is a | Distal spinal muscular atrophy | false | Inferred relationship | Some | ||
Young adult-onset distal hereditary motor neuropathy | Clinical course | Progressive | true | Inferred relationship | Some | 2 | |
Young adult-onset distal hereditary motor neuropathy | Finding site | Structure of nervous system | false | Inferred relationship | Some | 1 | |
Young adult-onset distal hereditary motor neuropathy | Occurrence | Adulthood | true | Inferred relationship | Some | 1 | |
Young adult-onset distal hereditary motor neuropathy | Is a | Chronic nervous system disorder | true | Inferred relationship | Some | ||
Young adult-onset distal hereditary motor neuropathy | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
Young adult-onset distal hereditary motor neuropathy | Finding site | Nerve structure | true | Inferred relationship | Some | 3 | |
Young adult-onset distal hereditary motor neuropathy | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 1 | |
Young adult-onset distal hereditary motor neuropathy | Is a | Autosomal recessive distal hereditary motor neuropathy | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set