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 |
| 4674401018 | DNAJB2-related Charcot-Marie-Tooth disease type 2 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4674402013 | DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2 (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4674403015 | DnaJ heat shock protein family (Hsp40) member B2-related Charcot-Marie-Tooth disease type 2 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 13244091000146110 | 'DnaJ/Hsp40 member B2'-gerelateerde ziekte van Charcot-Marie-Tooth type 2 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13244101000146115 | DNAJB2-gerelateerde CMT 2 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13244111000146118 | DNAJB2-gerelateerde HMSN 2 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13244131000146113 | 'DnaJ heat shock protein family (Hsp40) member B2'-gerelateerde motorische en sensorische neuropathie type 2 (aandoening) | nl | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13244651000146114 | DNAJB2-gerelateerde motorische en sensorische neuropathie type 2 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13244661000146112 | 'DnaJ heat shock protein family (Hsp40) member B2'-gerelateerde motorische en sensorische neuropathie type 2 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 4674404014 | A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles and sensory impairment. Patients present gait disturbances and loss of reflexes, at later stages loss of ambulation, dysarthria, dysphagia, facial weakness and impairment of respiratory muscles requiring assisted ventilation. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| DNAJB2-related Charcot-Marie-Tooth disease type 2 | Is a | Autosomal recessive Charcot-Marie-Tooth disease type 2 | true | Inferred relationship | Some | ||
| DNAJB2-related Charcot-Marie-Tooth disease type 2 | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 2 | |
| DNAJB2-related Charcot-Marie-Tooth disease type 2 | Finding site | Nerve structure | true | Inferred relationship | Some | 1 | |
| DNAJB2-related Charcot-Marie-Tooth disease type 2 | 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