Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3723359013 | Autosomal dominant Charcot-Marie-Tooth disease type 2Q | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3723360015 | Autosomal dominant Charcot-Marie-Tooth disease type 2Q (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 6145871000146112 | autosomaal dominante hereditaire motorische en sensorische neuropathie type 2Q | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6145881000146114 | autosomaal dominante ziekte van Charcot-Marie-Tooth type 2Q | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6145901000146112 | autosomaal dominante hereditaire motorische en sensorische neuropathie type 2Q (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6827121000146117 | autosomaal dominante CMT 2Q | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6827131000146115 | autosomaal dominante HMSN 2Q | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3723361016 | A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment. There is evidence this disease is caused by a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14. | 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 2Q | Is a | Autosomal dominant hereditary disorder | false | Inferred relationship | Some | ||
| Autosomal dominant Charcot-Marie-Tooth disease type 2Q | Is a | Charcot-Marie-Tooth disease, type II (disorder) | false | Inferred relationship | Some | ||
| Autosomal dominant Charcot-Marie-Tooth disease type 2Q | Associated morphology | Atrophy | true | Inferred relationship | Some | 1 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2Q | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2Q | Is a | Chronic nervous system disorder (disorder) | true | Inferred relationship | Some | ||
| Autosomal dominant Charcot-Marie-Tooth disease type 2Q | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 3 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2Q | Finding site | Nerve structure | true | Inferred relationship | Some | 1 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2Q | Is a | Autosomal dominant Charcot-Marie-Tooth disease type 2 | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR