Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5066165018 | Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5066166017 | Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5400096011 | A rare genetic skin disease characterized by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5400097019 | A rare genetic skin disease characterised by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Is a | Ectodermal dysplasia with hair-nail defect | true | Inferred relationship | Some | ||
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Is a | Congenital alopecia | true | Inferred relationship | Some | ||
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Is a | Hereditary diffuse palmoplantar keratoderma (disorder) | true | Inferred relationship | Some | ||
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Is a | Genetic disorder of nail (disorder) | true | Inferred relationship | Some | ||
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Is a | Hereditary cancer-predisposing syndrome | true | Inferred relationship | Some | ||
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Is a | Genetic disorder of skin pigmentation (disorder) | true | Inferred relationship | Some | ||
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Is a | Dystrophia unguium | true | Inferred relationship | Some | ||
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Finding site | Ectoderm structure | true | Inferred relationship | Some | 1 | |
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 4 | |
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Finding site | Nail unit structure | true | Inferred relationship | Some | 5 | |
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 5 | |
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Finding site | Entire skin of palmar area of hand | true | Inferred relationship | Some | 2 | |
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 2 | |
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Finding site | Entire skin of sole of foot | true | Inferred relationship | Some | 3 | |
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 3 | |
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 6 | |
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | Associated morphology | Pigment alteration | true | Inferred relationship | Some | 6 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
Description inactivation indicator reference set