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 |
3314998013 | Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3314999017 | Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3315000017 | Autosomal recessive palmoplantar keratoderma and congenital alopecia Wallis type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5401958017 | Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401959013 | Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterised by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Is a | Congenital alopecia | true | Inferred relationship | Some | ||
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Is a | Ectodermal dysplasia | false | Inferred relationship | Some | ||
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Is a | Hereditary palmoplantar keratoderma | true | Inferred relationship | Some | ||
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Has definitional manifestation | Abnormal keratinization | false | Inferred relationship | Some | ||
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 6 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Finding site | Ectoderm structure | false | Inferred relationship | Some | 6 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Associated morphology | Hyperkeratosis | false | Inferred relationship | Some | 7 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 7 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 8 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 8 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 9 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Finding site | Hair structure (body structure) | false | Inferred relationship | Some | 9 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Is a | Congenital ectodermal defect | true | Inferred relationship | Some | ||
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Interprets | Keratinization | false | Inferred relationship | Some | 3 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Has interpretation | Abnormal | false | Inferred relationship | Some | 3 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Finding site | Ectoderm structure | true | Inferred relationship | Some | 2 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 1 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Finding site | Skin structure of sole of foot (body structure) | true | Inferred relationship | Some | 3 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 4 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 3 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Finding site | Skin structure of palmar area of hand | true | Inferred relationship | Some | 4 | |
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)