Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3316663010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3316664016 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3316665015 | Palmoplantar keratoderma and congenital alopecia Stevanovic type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3316666019 | A rare genetic skin disorder with the absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. To date, ten individuals have been reported. Usually presents during infancy with manifestations of fading of facial, scalp and body hair within the first months of life without subsequent re-growth. Body and facial keratosis pilaris are additional features that appear in the following years. Palmoplantar keratoderma develops during infancy and may have an unusual pattern. The genetic basis is unknown. Transmission appears to be autosomal dominant. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Is a | Congenital alopecia | true | Inferred relationship | Some | ||
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Is a | Ectodermal dysplasia | false | Inferred relationship | Some | ||
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Is a | Hereditary palmoplantar keratoderma | true | Inferred relationship | Some | ||
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Has definitional manifestation | Abnormal keratinization | false | Inferred relationship | Some | ||
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 8 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 8 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Associated morphology | Hyperkeratosis | false | Inferred relationship | Some | 7 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 7 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 9 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Finding site | Hair structure (body structure) | false | Inferred relationship | Some | 9 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 6 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Finding site | Ectoderm structure | false | Inferred relationship | Some | 6 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Is a | Congenital ectodermal defect | true | Inferred relationship | Some | ||
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Has interpretation | Abnormal | false | Inferred relationship | Some | 4 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Interprets | Keratinization | false | Inferred relationship | Some | 4 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 1 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 2 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Finding site | Ectoderm structure | true | Inferred relationship | Some | 3 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 3 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Finding site | Skin structure of sole of foot (body structure) | true | Inferred relationship | Some | 4 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 5 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 4 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Finding site | Skin structure of palmar area of hand | true | Inferred relationship | Some | 5 | |
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets