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 |
| 3303737011 | Charcot-Marie-Tooth disease type 4A (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3303738018 | Charcot-Marie-Tooth disease type 4A | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 748621000241110 | maladie de Charcot-Marie-Tooth type 4A (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 978851000172116 | CMT4A - Charcot-Marie-Tooth disease type 4A | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 981011000172114 | maladie de Charcot-Marie-Tooth type 4A | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3303747014 | Charcot-Marie-Tooth disease type 4A (CMT4A) is a severe, early-onset form of demyelinating Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy with manifestation of severe motor retardation and progressive scoliosis. Considered the most frequent of all autosomal recessive forms of CMT. Onset usually occurs in infancy with distal muscle weakness and foot atrophy followed by proximal involvement and then distal weakness in the upper extremities and atrophy of the hands. Vocal cord paresis may also occur. CMT4A is caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission. 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 4A (disorder) | est un(e) (attribut) | Charcot-Marie-Tooth disease type 4 (disorder) | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease type 4A (disorder) | localisation d'une constatation (attribut) | structure du système nerveux périphérique | false | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease type 4A (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Charcot-Marie-Tooth disease type 4A (disorder) | localisation d'une constatation (attribut) | structure du système nerveux périphérique | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR