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 |
| 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) | est un(e) (attribut) | Ectodermal dysplasia with hair-nail defect | true | Inferred relationship | Some | ||
| Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | est un(e) (attribut) | Congenital alopecia | true | Inferred relationship | Some | ||
| Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | est un(e) (attribut) | Hereditary diffuse palmoplantar keratoderma (disorder) | true | Inferred relationship | Some | ||
| Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | est un(e) (attribut) | Genetic disorder of nail (disorder) | true | Inferred relationship | Some | ||
| Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | est un(e) (attribut) | syndrome familial avec prédisposition aux cancers (trouble) | true | Inferred relationship | Some | ||
| Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | est un(e) (attribut) | Genetic disorder of skin pigmentation (disorder) | true | Inferred relationship | Some | ||
| Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | est un(e) (attribut) | onychodystrophie | true | Inferred relationship | Some | ||
| Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | true | Inferred relationship | Some | 1 | |
| Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | morphologie associée (attribut) | dysplasie | 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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
| Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | true | Inferred relationship | Some | 4 | |
| Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | morphologie associée (attribut) | 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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 5 | |
| Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | localisation d'une constatation (attribut) | Nail unit structure | true | Inferred relationship | Some | 5 | |
| Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | 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) | localisation d'une constatation (attribut) | Entire skin of palmar area of hand | true | Inferred relationship | Some | 2 | |
| Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 2 | |
| Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | localisation d'une constatation (attribut) | Entire skin of sole of foot | true | Inferred relationship | Some | 3 | |
| Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | morphologie associée (attribut) | Hyperkeratosis | true | Inferred relationship | Some | 3 | |
| Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 6 | |
| Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) | morphologie associée (attribut) | Pigment alteration | true | Inferred relationship | Some | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR