Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4634476017 | Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4634477014 | MME-related autosomal dominant Charcot Marie Tooth disease type 2 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4634478016 | Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4634479012 | MME-related autosomal dominant hereditary motor and sensory neuropathy type 2 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 13116411000146112 | membraanmetallo-endopeptidase-gerelateerde autosomaal dominante motorische en sensorische neuropathie type 2 (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13116421000146119 | MME-gerelateerde autosomaal dominante HMSN 2 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13116431000146117 | MME-gerelateerde autosomaal dominante CMT 2 | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13116441000146113 | MME-gerelateerde autosomaal dominante 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) |
| 13116451000146111 | membraanmetallo-endopeptidase-gerelateerde autosomaal dominante motorische en sensorische neuropathie type 2 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 4634480010 | A rare autosomal dominant hereditary axonal motor and sensory neuropathy with characteristics of adult onset of slowly progressive distal muscle weakness and atrophy, sensory impairment, and hyporeflexia beginning in the lower limbs. Progressive gait disturbance may lead to loss of independent ambulation in some patients at a higher age. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder) | Is a | Autosomal dominant Charcot-Marie-Tooth disease type 2 | true | Inferred relationship | Some | ||
| Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder) | Is a | Chronic nervous system disorder (disorder) | true | Inferred relationship | Some | ||
| Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder) | Is a | Peripheral nerve disease | true | Inferred relationship | Some | ||
| Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 | |
| Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder) | Finding site | Peripheral nerve structure | true | Inferred relationship | Some | 3 | |
| Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder) | Finding site | Nerve structure | true | Inferred relationship | Some | 1 | |
| Membrane metalloendopeptidase related autosomal dominant Charcot Marie Tooth disease type 2 (disorder) | Associated morphology | Atrophy | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR