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 |
| 4674169010 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4674170011 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4674171010 | Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 (MORC family CW-type zinc finger 2) mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4674172015 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4674173013 | A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterised by early onset of generalised hypotonia and weakness, or later onset of distal lower limb muscle weakness and atrophy, cramps and sensory impairment. Weakness and atrophy progress in an asymmetric fashion to also involve the proximal and upper limbs in the course of the disease. Additional features are pyramidal signs like increased muscle tone and extensor plantar reflexes as well as learning difficulties. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4674174019 | A rare autosomal dominant hereditary axonal motor and sensory neuropathy characterized by early onset of generalized hypotonia and weakness, or later onset of distal lower limb muscle weakness and atrophy, cramps and sensory impairment. Weakness and atrophy progress in an asymmetric fashion to also involve the proximal and upper limbs in the course of the disease. Additional features are pyramidal signs like increased muscle tone and extensor plantar reflexes as well as learning difficulties. | 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 2Z | Is a | Autosomal dominant Charcot-Marie-Tooth disease type 2 | true | Inferred relationship | Some | ||
| Autosomal dominant Charcot-Marie-Tooth disease type 2Z | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 2 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2Z | Finding site | Nerve structure | true | Inferred relationship | Some | 1 | |
| Autosomal dominant Charcot-Marie-Tooth disease type 2Z | Associated morphology | Atrophy | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR