Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4553477010 | Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4553478017 | Juvenile polyposis syndrome with hereditary hemorrhagic telangiectasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4553479013 | Juvenile polyposis syndrome with hereditary hemorrhagic telangiectasia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4553482015 | JP-HHT (juvenile polyposis with hereditary hemorrhagic telangiectasia) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4553483013 | JP-HHT (juvenile polyposis with hereditary haemorrhagic telangiectasia) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4554534016 | Syndrome with characteristics of co-occurrence of both juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia. Juvenile polyposis syndrome has characteristics of hamartomatous polyps occurring throughout the gastrointestinal tract. Hereditary hemorrhagic telangiectasia is characterized by vascular dysplasia with telangiectases of the skin, oral and nasal mucosa and arteriovenous malformation of the lungs, liver, brain and gastrointestinal tract. The syndrome is caused by heterozygous mutation in the SMAD4 gene on chromosome 18q21. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4554535015 | Syndrome with characteristics of co-occurrence of both juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia. Juvenile polyposis syndrome has characteristics of hamartomatous polyps occurring throughout the gastrointestinal tract. Hereditary haemorrhagic telangiectasia is characterised by vascular dysplasia with telangiectases of the skin, oral and nasal mucosa and arteriovenous malformation of the lungs, liver, brain and gastrointestinal tract. The syndrome is caused by heterozygous mutation in the SMAD4 gene on chromosome 18q21. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia | Is a | Osler hemorrhagic telangiectasia syndrome | true | Inferred relationship | Some | ||
| Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia | Finding site | Gastrointestinal tract structure | true | Inferred relationship | Some | 4 | |
| Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia | Finding site | Microscopic skin vascular structure | false | Inferred relationship | Some | 1 | |
| Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia | Associated morphology | Telangiectasis | true | Inferred relationship | Some | 1 | |
| Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia | Associated morphology | Arteriovenous malformation | true | Inferred relationship | Some | 2 | |
| Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia | Is a | Juvenile polyposis syndrome (disorder) | true | Inferred relationship | Some | ||
| Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia | Finding site | Blood vessel structure (body structure) | true | Inferred relationship | Some | 2 | |
| Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia | Associated morphology | Multiple hamartomatous polyps | true | Inferred relationship | Some | 4 | |
| Juvenile polyposis syndrome with hereditary haemorrhagic telangiectasia | Finding site | Blood vessel structure (body structure) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR