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 |
3331783012 | Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3331784018 | Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3331785017 | CEDNIK syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3331786016 | CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, keratoderma) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402907016 | A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402908014 | A rare, genetic, neurocutaneous disease characterised by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Is a | Neurocutaneous syndrome | true | Inferred relationship | Some | ||
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Is a | Anomalies of cerebrum | false | Inferred relationship | Some | ||
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Is a | Cerebral dysgenesis | false | Inferred relationship | Some | ||
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Is a | Hereditary diffuse palmoplantar keratoderma (disorder) | true | Inferred relationship | Some | ||
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Is a | Autosomal recessive ichthyosis (disorder) | true | Inferred relationship | Some | ||
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Has definitional manifestation | Abnormal keratinization | false | Inferred relationship | Some | ||
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 5 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 5 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 6 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 6 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 7 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 7 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 6 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Finding site | Cerebrum | false | Inferred relationship | Some | 7 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 4 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Interprets | Keratinization | true | Inferred relationship | Some | 4 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Finding site | Cerebrum | true | Inferred relationship | Some | 1 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 2 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 2 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Is a | Congenital anomaly of cerebrum (disorder) | true | Inferred relationship | Some | ||
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Finding site | Skin structure of palmar area of hand | false | Inferred relationship | Some | 5 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Finding site | Skin structure of sole of foot (body structure) | false | Inferred relationship | Some | 3 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Finding site | Entire skin | true | Inferred relationship | Some | 2 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 3 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Is a | Rough skin of hands | true | Inferred relationship | Some | ||
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Finding site | Entire skin of palmar area of hand | true | Inferred relationship | Some | 3 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Finding site | Entire skin of sole of foot | true | Inferred relationship | Some | 5 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 6 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Associated morphology | Neoplasm | true | Inferred relationship | Some | 6 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 7 | |
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) | Associated morphology | Neoplasm | true | Inferred relationship | Some | 7 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)