Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3316638010 | Autosomal dominant Charcot-Marie-Tooth disease type 2F (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3316639019 | Autosomal dominant Charcot-Marie-Tooth disease type 2F | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5402134019 | A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. It presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402135018 | A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterised by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. It presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant Charcot-Marie-Tooth disease type 2F (disorder) | Is a | Autosomal dominant hereditary disorder | false | Inferred relationship | Some | ||
| Autosomal dominant Charcot-Marie-Tooth disease type 2F (disorder) | Is a | Charcot-Marie-Tooth disease, type II (disorder) | false | Inferred relationship | Some | ||
| Autosomal dominant Charcot-Marie-Tooth disease type 2F (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 1 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2F (disorder) | Associated morphology | Atrophy | true | Inferred relationship | Some | 2 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2F (disorder) | Finding site | Nerve structure | true | Inferred relationship | Some | 2 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2F (disorder) | Is a | Autosomal dominant Charcot-Marie-Tooth disease type 2 | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR