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 | Reference Sets |
| 3323050014 | Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core | GB English: Preferred (foundation metadata concept) |
| 3323051013 | Hydrocephalus with endocardial fibroelastosis and cataract syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core | GB English: Preferred (foundation metadata concept) |
| 3323052018 | HEC syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core | GB English: Acceptable (foundation metadata concept) |
| 3780953013 | HEC (hydrocephalus, endocardial fibroelastosis, cataract) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core | GB English: Acceptable (foundation 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 | GB English: Preferred (foundation metadata concept) |
| 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 | US English: Preferred (foundation metadata concept) |
| 3905701000052112 | syndrom med hydrocefalus, endokardiell fibroelastos och katarakt | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) | Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept) |
| 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 | true | 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 | kongenital 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 | medfödd katarakt | 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 | true | 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 (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
| Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) | Associated morphology | Opacity | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR