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 |
| 1004111000172119 | CMTDID - Charcot-Marie-Tooth disease type D | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3659556012 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type D | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3659557015 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type D (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 767931000241110 | maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante D (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 923151000172119 | maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante D | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3658901012 | A rare hereditary motor and sensory neuropathy with characteristics of intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type D | localisation d'une constatation (attribut) | structure du système nerveux périphérique | true | Inferred relationship | Some | 1 | |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type D | survenue (attribut) | congénital | false | Inferred relationship | Some | 1 | |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type D | est un(e) (attribut) | Congenital disease | false | Inferred relationship | Some | ||
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type D | localisation d'une constatation (attribut) | structure du système nerveux périphérique | false | Inferred relationship | Some | 1 | |
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type D | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal dominant intermediate Charcot-Marie-Tooth disease type D | est un(e) (attribut) | Hereditary motor and sensory neuropathy (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR