Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3437442017 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3437443010 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3437444016 | Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3437445015 | A severe early-onset form of axonal Charcot-Marie-Tooth peripheral sensorimotor polyneuropathy. Onset occurs in the neonatal period or early infancy with a clinical picture including hypotonia, scoliosis, a hoarse voice, vocal cord paralysis and respiratory insufficiency. However, nerve conduction velocities and pathological findings from sural nerve biopsies are indicative of a predominantly axonal neuropathy with some demyelinating features. Caused by mutations in the GDAP1 gene (8q13.3), encoding a protein required for mitochondrial fission. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) | Is a | Charcot-Marie-Tooth disease, type II (disorder) | false | Inferred relationship | Some | ||
| Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) | Associated morphology | Atrophy | true | Inferred relationship | Some | 2 | |
| Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) | Finding site | Nerve structure | true | Inferred relationship | Some | 2 | |
| Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (disorder) | Is a | Autosomal recessive 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