Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3756077015 | Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3756078013 | Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3756079017 | A rare inherited cancer-predisposing syndrome with characteristics of early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported. There is evidence the disease is caused by heterozygous mutation in the ATR gene on chromosome 3q23. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) | morphologie associée (attribut) | Telangiectasis | true | Inferred relationship | Some | 1 | |
| Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) | localisation d'une constatation (attribut) | Microscopic skin vascular structure | true | Inferred relationship | Some | 1 | |
| Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) | est un(e) (attribut) | télangiectasies | false | Inferred relationship | Some | ||
| Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) | est un(e) (attribut) | Familial disease | true | Inferred relationship | Some | ||
| Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) | est un(e) (attribut) | syndrome familial avec prédisposition aux cancers (trouble) | true | Inferred relationship | Some | ||
| Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) | est un(e) (attribut) | Telangiectasia of skin (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR