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 |
| 765601000241119 | syndrome de maladie de Charcot-Marie-Tooth-surdité-déficience intellectuelle (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 949041000172116 | syndrome de maladie de Charcot-Marie-Tooth-surdité-déficience intellectuelle | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 987391000172110 | neuropathie héréditaire avec surdité, déficience intellectuelle et absence de fibres sensitives myélinisées de gros calibre | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation 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 | est un(e) (attribut) | 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 | est un(e) (attribut) | affection de l'oreille | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | est un(e) (attribut) | Sensorineural hearing loss | false | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | est un(e) (attribut) | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | est un(e) (attribut) | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | est un(e) (attribut) | Hereditary motor and sensory neuropathy (disorder) | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 4 | |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | interprète (attribut) | entité observable fonctionnelle | false | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | localisation d'une constatation (attribut) | structure du système nerveux périphérique | true | Inferred relationship | Some | 1 | |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | localisation d'une constatation (attribut) | oreille | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR