Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3736408013 | Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3736410010 | Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3736411014 | Skin fragility, wooly hair, palmoplantar keratoderma syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3736413012 | A rare genetic ectodermal dysplasia syndrome with characteristics of persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Caused by homozygous or compound heterozygous mutation in the desmoplakin gene on chromosome 6p24. | en | Definition | Active | Case sensitive | SNOMED CT core |
3736414018 | A rare genetic ectodermal dysplasia syndrome with characteristics of persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Caused by homozygous or compound heterozygous mutation in the desmoplakin gene on chromosome 6p24. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Is a | Ectodermal dysplasia | true | Inferred relationship | Some | ||
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 3 | |
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Is a | Congenital woolly hair | true | Inferred relationship | Some | ||
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 3 | |
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Finding site | Ectoderm structure | true | Inferred relationship | Some | 2 | |
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Finding site | Hair shaft structure | true | Inferred relationship | Some | 1 | |
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Has interpretation | Abnormal | true | Inferred relationship | Some | 4 | |
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Is a | Hereditary diffuse palmoplantar keratoderma | true | Inferred relationship | Some | ||
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Interprets | Keratinisation | true | Inferred relationship | Some | 4 | |
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Is a | Congenital ichthyosis of skin | false | Inferred relationship | Some | ||
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Finding site | Skin structure of palmar area of hand | false | Inferred relationship | Some | 6 | |
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Is a | Inherited disorder of keratinisation | true | Inferred relationship | Some | ||
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Is a | Keratosis | false | Inferred relationship | Some | ||
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Finding site | Skin structure of sole of foot | false | Inferred relationship | Some | 5 | |
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 6 | |
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 5 | |
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Is a | Rough skin | false | Inferred relationship | Some | ||
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Is a | Rough skin of hands | true | Inferred relationship | Some | ||
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Finding site | Entire skin of palmar area of hand | true | Inferred relationship | Some | 5 | |
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Finding site | Entire skin of sole of foot | true | Inferred relationship | Some | 6 | |
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set