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 |
| 3723459012 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3723460019 | RI-CMT type C - autosomal recessive intermediate Charcot-Marie-Tooth disease type C | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3723461015 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type C | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3723462010 | A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease with characteristics of childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy. Caused by homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 889201000172113 | maladie de Charcot-Marie-Tooth intermédiaire autosomique récessive type C | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 936361000172110 | RI-CMT type C - autosomal recessive intermediate Charcot-Marie-Tooth disease type C | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (disorder) | Is a | Hereditary motor and sensory neuropathy (disorder) | true | Inferred relationship | Some | ||
| Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 1 | |
| Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 2 | |
| Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (disorder) | Is a | Chronic nervous system disorder (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR