Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4674391010 | Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4674392015 | Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 13240631000146114 | autosomaal recessieve axonale ziekte van Charcot-Marie-Tooth door stofwisselingsstoornis van koper | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13240641000146118 | autosomaal recessieve axonale motorische en sensorische neuropathie door stoornis van kopermetabolisme (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13240651000146115 | autosomaal recessieve axonale motorische en sensorische neuropathie door stoornis van kopermetabolisme | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13240661000146117 | autosomaal recessieve axonale HMSN door stoornis van kopermetabolisme | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13308311000146111 | autosomaal recessieve axonale CMT door defect van kopermetabolisme | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 4674393013 | A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect (disorder) | Is a | Hereditary motor and sensory neuropathy (disorder) | true | Inferred relationship | Some | ||
| Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect (disorder) | Is a | Disorder of copper metabolism | true | Inferred relationship | Some | ||
| Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect (disorder) | Due to | Disorder of copper metabolism | true | Inferred relationship | Some | 2 | |
| Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect (disorder) | Is a | Hereditary metabolic disease | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR