Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3331135019 | Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
3331136018 | Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
3331137010 | This syndrome has characteristics of sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Is a | Congenital anomaly of skin | true | Inferred relationship | Some | ||
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 2 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Finding site | Gonadal structure | true | Inferred relationship | Some | 1 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 4 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 3 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Finding site | Skin structure of palmar area of hand | false | Inferred relationship | Some | 4 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Finding site | Skin structure of sole of foot | false | Inferred relationship | Some | 3 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Finding site | Entire skin of palmar area of hand | true | Inferred relationship | Some | 3 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Finding site | Entire skin of sole of foot | true | Inferred relationship | Some | 4 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Is a | Gonadal dysgenesis | true | Inferred relationship | Some | ||
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Is a | Hereditary diffuse palmoplantar keratoderma | true | Inferred relationship | Some | ||
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Is a | Hereditary neoplastic syndrome | true | Inferred relationship | Some | ||
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Has definitional manifestation | Abnormal keratinisation | false | Inferred relationship | Some | ||
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 5 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Finding site | Skin structure | false | Inferred relationship | Some | 5 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 4 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Finding site | Gonadal structure | false | Inferred relationship | Some | 4 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Finding site | Skin structure | false | Inferred relationship | Some | 6 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Associated morphology | Hyperkeratosis | false | Inferred relationship | Some | 6 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Has interpretation | Abnormal | false | Inferred relationship | Some | 3 | |
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome | Interprets | Keratinisation | false | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set