Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3323050014 | Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323051013 | Hydrocephalus with endocardial fibroelastosis and cataract syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323052018 | HEC syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3323056015 | HEC (hydrocephalus, endocardial fibroelastosis, cataract ) syndrome | en | Synonym (core metadata concept) | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3780953013 | HEC (hydrocephalus, endocardial fibroelastosis, cataract) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3323054017 | Syndrome that is characterised by communicating hydrocephalus, endocardial fibroelastosis and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3323055016 | Syndrome that is characterized by communicating hydrocephalus, endocardial fibroelastosis and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The etiology of the syndrome is unknown but a viral or genetic origin has been proposed. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402569011 | A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evidence of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402570012 | A rare syndromic cardiac disease characterised by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evidence of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosaemia is reported. There have been no further descriptions in the literature since 1995. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Is a | Congenital hydrocephalus | true | Inferred relationship | Some | ||
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Is a | Endocardial fibroelastosis | false | Inferred relationship | Some | ||
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Is a | Congenital cataract | true | Inferred relationship | Some | ||
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Is a | Communicating hydrocephalus | true | Inferred relationship | Some | ||
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Finding site | Cardiac internal structure | false | Inferred relationship | Some | ||
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Associated morphology | Congenital dilatation | false | Inferred relationship | Some | 6 | |
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Finding site | Brain cerebrospinal fluid pathway | false | Inferred relationship | Some | 6 | |
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Associated morphology | Congenital cataract | false | Inferred relationship | Some | 4 | |
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Finding site | Lens clear | false | Inferred relationship | Some | 4 | |
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Associated morphology | Fibroelastosis (morphologic abnormality) | false | Inferred relationship | Some | 5 | |
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Finding site | Endocardium structure | false | Inferred relationship | Some | 5 | |
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Is a | Congenital cardiovascular disorder (disorder) | false | Inferred relationship | Some | ||
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Finding site | Lens clear | true | Inferred relationship | Some | 3 | |
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Is a | Congenital heart disease | false | Inferred relationship | Some | ||
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Associated morphology | Fibroelastosis (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Finding site | Brain cerebrospinal fluid pathway | true | Inferred relationship | Some | 1 | |
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Finding site | Endocardium structure | true | Inferred relationship | Some | 2 | |
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Associated morphology | Dilatation | true | Inferred relationship | Some | 1 | |
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Associated morphology | Cataract | false | Inferred relationship | Some | 3 | |
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Associated morphology | Opacity | true | Inferred relationship | Some | 3 | |
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Is a | Congenital endocardial fibroelastosis (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR