Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3637979015 | Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3637980017 | Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3637981018 | Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibres | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3637982013 | Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
| 3637983015 | A rare demyelinating hereditary motor and sensory neuropathy characterised by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibres on sural nerve biopsy is equally characteristic of the disease. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 3637984014 | A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Is a | Congenital sensorineural hearing loss | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Is a | Disorder of ear | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 5 | |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 6 | |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Is a | Sensorineural hearing loss | false | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Is a | Hereditary motor and sensory neuropathy | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Interprets | Hearing | true | Inferred relationship | Some | 4 | |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Interprets | Functional observable | false | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 1 | |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Finding site | Ear structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR