Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3424241011 | Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424242016 | Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424243014 | Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424244015 | HLTRS (hypotrichosis, lymphedema, telangiectasia, renal defect) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3424245019 | HLTRS (hypotrichosis, lymphoedema, telangiectasia, renal defect) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3424246018 | An extremely rare syndromic lymphedema disorder characterized by four features which begin in early childhood and are progressive; hypotrichosis, lymphedema, variable telangiectasia particularly of the palms and renal defect. There is evidence that this syndrome is caused by heterozygous mutation in the SOX18 gene on chromosome 20q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3424247010 | An extremely rare syndromic lymphoedema disorder characterised by four features which begin in early childhood and are progressive; hypotrichosis, lymphoedema, variable telangiectasia particularly of the palms and renal defect. There is evidence that this syndrome is caused by heterozygous mutation in the SOX18 gene on chromosome 20q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Is a | Hypotrichosis | true | Inferred relationship | Some | ||
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Is a | Glomerular disease | true | Inferred relationship | Some | ||
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Is a | Telangiectasia disorder | false | Inferred relationship | Some | ||
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Is a | Hereditary lymphedema | true | Inferred relationship | Some | ||
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Is a | Congenital vascular disorder (disorder) | false | Inferred relationship | Some | ||
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Associated morphology | Telangiectasis | false | Inferred relationship | Some | 5 | |
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Finding site | Microscopic skin vascular structure | false | Inferred relationship | Some | 5 | |
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Finding site | Glomerulus structure | false | Inferred relationship | Some | 6 | |
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Finding site | Hair structure (body structure) | false | Inferred relationship | Some | 7 | |
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Associated morphology | Lymphatic edema | false | Inferred relationship | Some | 4 | |
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Associated morphology | Growth alteration | true | Inferred relationship | Some | 1 | |
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 1 | |
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Associated morphology | Telangiectasis | true | Inferred relationship | Some | 2 | |
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Finding site | Glomerulus structure | true | Inferred relationship | Some | 4 | |
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Finding site | Microscopic skin vascular structure | true | Inferred relationship | Some | 2 | |
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Associated morphology | Lymphatic edema | true | Inferred relationship | Some | 3 | |
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Is a | Telangiectasia of skin (disorder) | true | Inferred relationship | Some | ||
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Finding site | Limb structure | true | Inferred relationship | Some | 3 | |
| Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR