Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3303755019 | Charcot-Marie-Tooth disease type 4B2 (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3303756018 | Charcot-Marie-Tooth disease type 4B2 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3303757010 | Charcot-Marie-Tooth disease, type 4B2 (CMT4B2) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy. Clinically and pathologically very similar to Charcot-Marie-Tooth type 4B1 with childhood-onset of muscle weakness, sensory loss, reduced nerve conduction velocities, characteristic myelin outfoldings and a severe disease course. However, in addition to the severe neuropathy, patients from some CMT4B2 families also develop early-onset glaucoma. Caused by mutations in the MTMR13/SBF2 gene encoding a protein involved in polyphosphoinositide signaling. Transmitted in an autosomal recessive manner. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 876871000172119 | maladie de Charcot-Marie-Tooth type 4B2 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 985511000172118 | CMT4B2 - Charcot-Marie-Tooth disease type 4B2 | 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 |
| Charcot-Marie-Tooth disease type 4B2 (disorder) | Is a | Charcot-Marie-Tooth disease type 4 (disorder) | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease type 4B2 (disorder) | Finding site | Peripheral nervous system structure | false | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease type 4B2 (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Charcot-Marie-Tooth disease type 4B2 (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR