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 |
| 1003341000172115 | maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante C | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3659552014 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3659553016 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type C | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 767921000241113 | maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante C (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 899141000172115 | CMTDIC - Charcot-Marie-Tooth disease type C | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3659554010 | A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3659555011 | A rare hereditary motor and sensory neuropathy characterised by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante C | localisation d'une constatation (attribut) | structure du système nerveux périphérique | true | Inferred relationship | Some | 1 | |
| maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante C | survenue (attribut) | congénital | false | Inferred relationship | Some | 1 | |
| maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante C | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante C | localisation d'une constatation (attribut) | structure du système nerveux périphérique | false | Inferred relationship | Some | 1 | |
| maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante C | est un(e) (attribut) | Hereditary motor and sensory neuropathy (disorder) | true | Inferred relationship | Some | ||
| maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante C | est un(e) (attribut) | Congenital disease | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR