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 |
| 3303761016 | Charcot-Marie-Tooth disease type 4H (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3303762011 | Charcot-Marie-Tooth disease type 4H | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 748681000241111 | maladie de Charcot-Marie-Tooth type 4H (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 876661000172110 | CMT4H - Charcot-Marie-Tooth disease type 4H | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 905101000172112 | maladie de Charcot-Marie-Tooth type 4H | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3303763018 | Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy. It has been described in 10 individuals from two large consanguineous families from Lebanon and Algeria. Onset occurs within the first two years of life with slowly progressive muscle weakness in the distal extremities. Other common features include delayed walking, an abnormal gait, scoliosis and pes equines with toe retraction. CMT4H is caused by mutations in the FGD4 gene (12p11.1). 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 4H (disorder) | est un(e) (attribut) | Charcot-Marie-Tooth disease type 4 (disorder) | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease type 4H (disorder) | localisation d'une constatation (attribut) | structure du système nerveux périphérique | false | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease type 4H (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Charcot-Marie-Tooth disease type 4H (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