Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 1005461000172113 | CMT4J - Charcot-Marie-Tooth disease type 4J | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3321624018 | Charcot-Marie-Tooth disease type 4J (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3321625017 | Charcot-Marie-Tooth disease type 4J | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 755821000241118 | maladie de Charcot-Marie-Tooth type 4J (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 993111000172113 | maladie de Charcot-Marie-Tooth type 4J | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3321626016 | Belongs to the genetically heterogeneous group of Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy diseases, rare with only five patients reported in the literature so far. The syndrome has characteristics of rapidly progressive, asymmetric motor neuron degeneration with slow nerve conduction velocities, weakness and paralysis, without sensory loss. It is caused by mutations in the FIG4 gene (6q21). This gene encodes the enzyme polyphosphoinositide phosphatase. Transmitted in an autosomal recessive manner. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Charcot-Marie-Tooth disease type 4J (disorder) | est un(e) (attribut) | Charcot-Marie-Tooth disease type 4 (disorder) | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease type 4J (disorder) | localisation d'une constatation (attribut) | structure du système nerveux périphérique | false | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease type 4J (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Charcot-Marie-Tooth disease type 4J (disorder) | localisation d'une constatation (attribut) | structure du système nerveux périphérique | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR