Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3763689010 | A rare genetic motor neuron disease with characteristics of late childhood or adolescent onset of slowly progressive severe distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation and absence of bulbar involvement. Leads to degeneration of motor neurons in the brain and spinal cord. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3763685016 | Amyotrophic lateral sclerosis type 4 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3763686015 | ALS4 - amyotrophic lateral sclerosis type 4 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3763687012 | dHMN (distal hereditary motor neuropathy) with upper motor neuron signs | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3763688019 | Amyotrophic lateral sclerosis type 4 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
A rare genetic motor neuron disease with characteristics of late childhood or adolescent onset of slowly progressive severe distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation and absence of bulbar involvement. Leads to degeneration of motor neurons in the brain and spinal cord. | Associated morphology | Degeneration | false | Inferred relationship | Some | 1 | |
A rare genetic motor neuron disease with characteristics of late childhood or adolescent onset of slowly progressive severe distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation and absence of bulbar involvement. Leads to degeneration of motor neurons in the brain and spinal cord. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
A rare genetic motor neuron disease with characteristics of late childhood or adolescent onset of slowly progressive severe distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation and absence of bulbar involvement. Leads to degeneration of motor neurons in the brain and spinal cord. | Is a | Amyotrophic lateral sclerosis | true | Inferred relationship | Some | ||
A rare genetic motor neuron disease with characteristics of late childhood or adolescent onset of slowly progressive severe distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation and absence of bulbar involvement. Leads to degeneration of motor neurons in the brain and spinal cord. | Finding site | Structure of central nervous system (body structure) | true | Inferred relationship | Some | 1 | |
A rare genetic motor neuron disease with characteristics of late childhood or adolescent onset of slowly progressive severe distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation and absence of bulbar involvement. Leads to degeneration of motor neurons in the brain and spinal cord. | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
A rare genetic motor neuron disease with characteristics of late childhood or adolescent onset of slowly progressive severe distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation and absence of bulbar involvement. Leads to degeneration of motor neurons in the brain and spinal cord. | Is a | Degenerative disease of the central nervous system | false | Inferred relationship | Some | ||
A rare genetic motor neuron disease with characteristics of late childhood or adolescent onset of slowly progressive severe distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation and absence of bulbar involvement. Leads to degeneration of motor neurons in the brain and spinal cord. | Is a | Chronic nervous system disorder | true | Inferred relationship | Some | ||
A rare genetic motor neuron disease with characteristics of late childhood or adolescent onset of slowly progressive severe distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation and absence of bulbar involvement. Leads to degeneration of motor neurons in the brain and spinal cord. | Clinical course | Progressive | true | Inferred relationship | Some | 2 | |
A rare genetic motor neuron disease with characteristics of late childhood or adolescent onset of slowly progressive severe distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation and absence of bulbar involvement. Leads to degeneration of motor neurons in the brain and spinal cord. | Is a | Hereditary degenerative disease of central nervous system (disorder) | true | Inferred relationship | Some | ||
A rare genetic motor neuron disease with characteristics of late childhood or adolescent onset of slowly progressive severe distal limb muscle weakness and wasting, in association with pyramidal signs, normal sensation and absence of bulbar involvement. Leads to degeneration of motor neurons in the brain and spinal cord. | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets