Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 1002121000172115 | maladie de Charcot-Marie-Tooth liée à l'X type 2 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3642515015 | X-linked Charcot-Marie-Tooth disease type 2 (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3642516019 | X-linked Charcot-Marie-Tooth disease type 2 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 766131000241111 | maladie de Charcot-Marie-Tooth liée à l'X type 2 (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 962341000172117 | CMTX2 - Charcot-Marie-Tooth disease type 2, X-linked | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3642517011 | A rare genetic peripheral sensorimotor neuropathy with an X-linked recessive inheritance pattern and the infantile to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked Charcot-Marie-Tooth disease type 2 (disorder) | est un(e) (attribut) | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked Charcot-Marie-Tooth disease type 2 (disorder) | est un(e) (attribut) | X-linked hereditary motor and sensory neuropathy | true | Inferred relationship | Some | ||
| X-linked Charcot-Marie-Tooth disease type 2 (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| X-linked Charcot-Marie-Tooth disease type 2 (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