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 |
| 13605161000146114 | syndroom van pigmentatiedefecten, keratosis palmoplantaris en carcinoom van huid (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13605171000146115 | syndroom van pigmentatiedefecten, keratosis palmoplantaris en carcinoom van huid | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13605181000146118 | syndroom van pigmentatiedefecten, palmoplantaire keratodermie en huidcarcinoom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 5066167014 | A rare genetic skin disease with characteristics of 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 |
This concept is not in any reference sets
FHIR