Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3637979015 | Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 3637980017 | Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3637981018 | Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibres | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3637982013 | Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive | SNOMED CT core module |
| 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 | Existential restriction modifier | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Is a | Congenital hearing disorder | false | Inferred relationship | Existential restriction modifier | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Existential restriction modifier | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Is a | Auditory system hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Is a | Hereditary motor and sensory neuropathy | true | Inferred relationship | Existential restriction modifier | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Interprets | Hearing, function | true | Inferred relationship | Existential restriction modifier | 4 | |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Interprets | Functional observable | false | Inferred relationship | Existential restriction modifier | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Finding site | Peripheral nervous system structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Finding site | Ear structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Is a | Congenital sensorineural hearing loss | true | Inferred relationship | Existential restriction modifier | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 3 | |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Is a | Disorder of ear | true | Inferred relationship | Existential restriction modifier | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 5 | |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 5 | |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 6 | |
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR