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 |
5404200011 | Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterized by 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5404201010 | Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome is an inherited epidermal disorder characterised by 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. | 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)