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 |
3780953013 | HEC (hydrocephalus, endocardial fibroelastosis, cataract) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
7580481000146118 | syndroom van hydrocefalie met endocardiale fibro-elastose en cataract (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
7580491000146116 | syndroom van hydrocefalie met endocardiale fibro-elastose en cataract | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
7809251000146118 | syndroom van hydrocephalus met endocardiale fibro-elastose en staar | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
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 | Active | 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 | 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 | congenitale dilatatie (afwijkende morfologie) | 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 | congenitaal 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 |
This concept is not in any reference sets