Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3637980017 | Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3637981018 | Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibres | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3637982013 | Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6719371000146115 | syndroom van hereditaire motorische en sensorische neuropathie, doofheid en mentale retardatie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6719391000146116 | syndroom van ziekte van Charcot-Marie-Tooth, doofheid en mentale retardatie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6912631000146111 | syndroom van CMT, doofheid en mentale retardatie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7495151000146116 | syndroom van hereditaire motorische en sensorische neuropathie, doofheid en verstandelijke beperking (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7718271000146118 | syndroom van hereditaire motorische en sensorische neuropathie, doofheid en verstandelijke beperking | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 8039111000146110 | syndroom van HMSN, doofheid en verstandelijke handicap | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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 | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 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 (disorder) | 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 | observatie betreffende functioneren | 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 | |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Is a | Congenital sensorineural hearing loss (disorder) | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Pathological process (attribute) | 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 (observable entity) | 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 behavior (observable entity) | 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 | Congenital neurological disorder (disorder) | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Is a | Disorder of sensory function (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR