Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4643781018 | PMP2-related Charcot-Marie-Tooth disease type 1 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4643782013 | Peripheral myelin protein 2-related Charcot-Marie-Tooth disease type 1 (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4643783015 | Peripheral myelin protein 2-related Charcot-Marie-Tooth disease type 1 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4643786011 | PMP2-related Charcot-Marie-Tooth neuropathy type 1 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4643787019 | PMP2-related hereditary motor and sensory neuropathy type 1 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4643788012 | A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy with characteristics of progressive distal muscle weakness and atrophy, distal sensory impairment and decreased or absent reflexes in the affected limbs with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4643789016 | A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy with characteristics of progressive distal muscle weakness and atrophy, distal sensory impairment and decreased or absent reflexes in the affected limbs with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibres, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| PMP2-related Charcot-Marie-Tooth disease type 1 | Is a | Charcot-Marie-Tooth disease, type I (disorder) | true | Inferred relationship | Some | ||
| PMP2-related Charcot-Marie-Tooth disease type 1 | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR