Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
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 (core metadata concept) | SNOMED CT core |
3330261017 | Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3330262012 | MEDNIK syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3330263019 | MEDNIK (mental retardation, enteropathy, deafness, peripheral neuropathy, ichtyosis, keratodermia) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3330264013 | Erythrokeratodermia variabilis 3 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3330265014 | Erythrokeratodermia variabilis Kamouraska type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3325371011 | MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), has characteristics of intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis and keratodermia. The syndrome has been described in four families descending from limited number of ancestors in Quebec. The disease is due to a mutation in the AP1S1 gene encoding the small subunit sigma1A of the AP-1 complex. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
13976321000172114 | syndrome de MEDNIK (mental retardation, enteropathy, deafness, peripheral neuropathy, ichtyosis, keratodermia) | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
13976331000172112 | syndrome de déficience intellectuelle, entéropathie, surdité, neuropathie périphérique, ichtyose et kératodermie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
13976341000172117 | EKV3 - érythrokératodermie variable de type 3 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
4360871000172118 | erythrokeratodermia variabilis type Kamouraska | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4360881000172115 | syndroom van verstandelijke handicap, enteropathie, doofheid, perifere neuropathie, ichtyose en keratoderma | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4360891000172117 | syndroom van verstandelijke beperking, enteropathie, doofheid, perifere neuropathie, ichtyose en keratoderma | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4360901000172118 | erythrokeratodermia variabilis type 3 | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4360911000172115 | syndroom van mentale retardatie, enteropathie, doofheid, perifere neuropathie, ichtyose en keratoderma | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
4360921000172113 | MEDNIK-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Is a | retard mental | false | Inferred relationship | Some | ||
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Is a | Erythrokeratoderma | false | Inferred relationship | Some | ||
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Is a | Autosomal recessive ichthyosis (disorder) | true | Inferred relationship | Some | ||
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Finding site | Ear structure | false | Inferred relationship | Some | 3 | |
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Has definitional manifestation | Abnormal keratinization | false | Inferred relationship | Some | ||
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 5 | |
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 4 | |
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Associated morphology | Hyperkeratosis | false | Inferred relationship | Some | 5 | |
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Interprets | Keratinization | true | Inferred relationship | Some | 2 | |
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 2 | |
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 1 | |
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 1 | |
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Finding site | Entire skin | true | Inferred relationship | Some | 1 | |
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 3 | |
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 4 | |
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Is a | Erythrokeratodermia variabilis | false | Inferred relationship | Some | ||
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Is a | Congenital keratoderma | true | Inferred relationship | Some | ||
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets