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 |
| 3638639011 | X-linked Charcot-Marie-Tooth disease type 6 (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3638640013 | X-linked Charcot-Marie-Tooth disease type 6 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 765871000241112 | maladie de Charcot-Marie-Tooth liée à l'X type 6 (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 925191000172111 | CMT6X - Charcot-Marie-Tooth disease type 6, X-linked | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 925371000172112 | maladie de Charcot-Marie-Tooth liée à l'X type 6 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3638641012 | A rare genetic principally axonal peripheral sensorimotor neuropathy with an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, pan modal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles). | 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 6 (disorder) | est un(e) (attribut) | X-linked dominant hereditary disease (disorder) | true | Inferred relationship | Some | ||
| X-linked Charcot-Marie-Tooth disease type 6 (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| X-linked Charcot-Marie-Tooth disease type 6 (disorder) | localisation d'une constatation (attribut) | structure du système nerveux périphérique | true | Inferred relationship | Some | 1 | |
| X-linked Charcot-Marie-Tooth disease type 6 (disorder) | est un(e) (attribut) | X-linked hereditary motor and sensory neuropathy | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR