Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3706377018 | Autosomal recessive distal spinal muscular atrophy type 5 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3706378011 | Young adult-onset distal hereditary motor neuropathy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 906121000172112 | neuropathie motrice distale héréditaire de l'adulte jeune | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 1016711000172110 | amyotrophie spinale distale autosomique récessive type 5 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 876321000172113 | autosomaal recessieve distale spinale musculaire atrofie type 5 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 896561000172117 | distale erfelijke motorneuropathie met aanvang in vroege volwassenheid | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 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 (qualifier value) | true | Inferred relationship | Some | 2 | |
| Young adult-onset distal hereditary motor neuropathy | Finding site | Structure of nervous system (body structure) | 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 (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 (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR