Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3723071012 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type A | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3723072017 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type A (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5244186011 | RI-CMT (recessive intermediate Charcot-Marie-Tooth) type A | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6381021000146115 | autosomaal recessieve intermediaire hereditaire motorische en sensorische neuropathie type A | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6381031000146118 | autosomaal recessieve intermediaire hereditaire motorische en sensorische neuropathie type A (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6381041000146114 | autosomaal recessieve intermediaire ziekte van Charcot-Marie-Tooth type A | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6381661000146115 | RI-HMSN A | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6381671000146114 | RI-CMT A | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3723073010 | A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease with characteristics of severe, early childhood-onset Charcot-Marie-Tooth neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology. Caused by homozygous mutation in the GDAP1 gene on chromosome 8q21. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive intermediate Charcot-Marie-Tooth disease type A | Is a | Hereditary motor and sensory neuropathy (disorder) | true | Inferred relationship | Some | ||
| Autosomal recessive intermediate Charcot-Marie-Tooth disease type A | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive intermediate Charcot-Marie-Tooth disease type A | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive intermediate Charcot-Marie-Tooth disease type A | Occurrence | Early childhood (qualifier value) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR