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 |
3643799015 | KLICK syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3643800016 | Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3643801017 | Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3643802012 | An inherited epidermal disorder with characteristics of palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities. The disease is caused by homozygous mutation in the POMP gene. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | Is a | Mutilating keratoderma | false | Inferred relationship | Some | ||
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | Is a | Autosomal recessive ichthyosis (disorder) | true | Inferred relationship | Some | ||
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 3 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | Interprets | Keratinization | true | Inferred relationship | Some | 3 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 1 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 2 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 2 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 1 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 1 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | Finding site | Skin structure of palmar area of hand | false | Inferred relationship | Some | 2 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 4 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | Is a | Erythrokeratodermia variabilis | false | Inferred relationship | Some | ||
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | Finding site | Skin structure of sole of foot (body structure) | false | Inferred relationship | Some | 4 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | Finding site | Entire skin | true | Inferred relationship | Some | 1 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | Is a | Hereditary diffuse palmoplantar keratoderma (disorder) | true | Inferred relationship | Some | ||
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | Is a | Rough skin of hands | true | Inferred relationship | Some | ||
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | Finding site | Entire skin of palmar area of hand | true | Inferred relationship | Some | 2 | |
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) | Finding site | Entire skin of sole of foot | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets