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 |
| 766221000241116 | neuropathie motrice distale héréditaire type Jerash (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 884371000172110 | neuropathie motrice distale héréditaire type Jerash | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 932301000172113 | amyotrophie spinale distale autosomique récessive type 2 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 | est un(e) (attribut) | Autosomal recessive distal hereditary motor neuropathy (disorder) | true | Inferred relationship | Some | ||
| Distal hereditary motor neuropathy Jerash type | localisation d'une constatation (attribut) | structure d'un nerf | true | Inferred relationship | Some | 2 | |
| Distal hereditary motor neuropathy Jerash type | localisation d'une constatation (attribut) | structure du système nerveux périphérique | true | Inferred relationship | Some | 1 | |
| Distal hereditary motor neuropathy Jerash type | est un(e) (attribut) | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Distal hereditary motor neuropathy Jerash type | est un(e) (attribut) | Distal spinal muscular atrophy | false | Inferred relationship | Some | ||
| Distal hereditary motor neuropathy Jerash type | localisation d'une constatation (attribut) | système nerveux | false | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR