Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3325363012 | Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 3330261017 | Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3330262012 | MEDNIK syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 3330263019 | MEDNIK (mental retardation, enteropathy, deafness, peripheral neuropathy, ichtyosis, keratodermia) syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 3330264013 | Erythrokeratodermia variabilis 3 | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3330265014 | Erythrokeratodermia variabilis Kamouraska type | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Is a | Mental retardation | false | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Is a | Erythrokeratoderma | false | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Is a | Auditory system hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Is a | Autosomal recessive ichthyosis | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Finding site | Ear structure | false | Inferred relationship | Existential restriction modifier | 3 | |
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Has definitional manifestation | Abnormal keratinization | false | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 4 | |
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Finding site | Skin structure | false | Inferred relationship | Existential restriction modifier | 4 | |
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 5 | |
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Finding site | Skin structure | false | Inferred relationship | Existential restriction modifier | 5 | |
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Existential restriction modifier | 4 | |
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Associated morphology | Hyperkeratosis | false | Inferred relationship | Existential restriction modifier | 5 | |
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Interprets | Keratinization, function | true | Inferred relationship | Existential restriction modifier | 2 | |
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Has interpretation | Abnormal | true | Inferred relationship | Existential restriction modifier | 2 | |
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Associated morphology | Hyperkeratosis | true | Inferred relationship | Existential restriction modifier | 1 | |
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Finding site | Skin structure | false | Inferred relationship | Existential restriction modifier | 1 | |
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Finding site | Entire skin | true | Inferred relationship | Existential restriction modifier | 1 | |
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Interprets | Hearing, function | true | Inferred relationship | Existential restriction modifier | 3 | |
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Finding site | Structure of auditory system | true | Inferred relationship | Existential restriction modifier | 4 | |
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Is a | Congenital hearing disorder | false | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Is a | Erythrokeratodermia variabilis | false | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Is a | Congenital keratoderma | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Is a | Sensorineural hearing loss | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 3 | |
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 5 | |
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 5 | |
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 6 | |
| Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma 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