Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3331765016 | Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3331766015 | Congenital cataract, nephropathy, encephalopathy syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3331767012 | Crome syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3331768019 | A lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits and postmortem confirmation of nephropathy (renal tubular necrosis). The combination has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Congenital cataract, nephropathy, encephalopathy syndrome | Is a | Congenital anomaly of the kidney | true | Inferred relationship | Some | ||
Congenital cataract, nephropathy, encephalopathy syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Congenital cataract, nephropathy, encephalopathy syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Congenital cataract, nephropathy, encephalopathy syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Congenital cataract, nephropathy, encephalopathy syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Congenital cataract, nephropathy, encephalopathy syndrome | Finding site | Renal tubule structure | true | Inferred relationship | Some | 1 | |
Congenital cataract, nephropathy, encephalopathy syndrome | Associated morphology | Necrosis | true | Inferred relationship | Some | 1 | |
Congenital cataract, nephropathy, encephalopathy syndrome | Finding site | Brain structure | true | Inferred relationship | Some | 2 | |
Congenital cataract, nephropathy, encephalopathy syndrome | Associated morphology | Cataract | false | Inferred relationship | Some | 3 | |
Congenital cataract, nephropathy, encephalopathy syndrome | Associated morphology | Abnormally opaque structure | true | Inferred relationship | Some | 3 | |
Congenital cataract, nephropathy, encephalopathy syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Congenital cataract, nephropathy, encephalopathy syndrome | Interprets | Height / growth measure | true | Inferred relationship | Some | 4 | |
Congenital cataract, nephropathy, encephalopathy syndrome | Is a | Traumatic or nontraumatic brain injury | true | Inferred relationship | Some | ||
Congenital cataract, nephropathy, encephalopathy syndrome | Is a | Injury of lens | true | Inferred relationship | Some | ||
Congenital cataract, nephropathy, encephalopathy syndrome | Is a | Congenital cataract | true | Inferred relationship | Some | ||
Congenital cataract, nephropathy, encephalopathy syndrome | Is a | Encephalopathy | false | Inferred relationship | Some | ||
Congenital cataract, nephropathy, encephalopathy syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Congenital cataract, nephropathy, encephalopathy syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Congenital cataract, nephropathy, encephalopathy syndrome | Is a | Renal tubular disorder | true | Inferred relationship | Some | ||
Congenital cataract, nephropathy, encephalopathy syndrome | Is a | Short stature disorder | true | Inferred relationship | Some | ||
Congenital cataract, nephropathy, encephalopathy syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Congenital cataract, nephropathy, encephalopathy syndrome | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Congenital cataract, nephropathy, encephalopathy syndrome | Is a | Renal cortical necrosis | true | Inferred relationship | Some | ||
Congenital cataract, nephropathy, encephalopathy syndrome | Is a | Hereditary nephropathy | true | Inferred relationship | Some | ||
Congenital cataract, nephropathy, encephalopathy syndrome | Finding site | Brain structure | false | Inferred relationship | Some | ||
Congenital cataract, nephropathy, encephalopathy syndrome | Associated morphology | Necrosis | false | Inferred relationship | Some | 3 | |
Congenital cataract, nephropathy, encephalopathy syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Congenital cataract, nephropathy, encephalopathy syndrome | Finding site | Renal tubule structure | false | Inferred relationship | Some | 3 | |
Congenital cataract, nephropathy, encephalopathy syndrome | Associated morphology | Congenital cataract | false | Inferred relationship | Some | 4 | |
Congenital cataract, nephropathy, encephalopathy syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Congenital cataract, nephropathy, encephalopathy syndrome | Finding site | Structure of lens of eye | false | Inferred relationship | Some | 4 | |
Congenital cataract, nephropathy, encephalopathy syndrome | Finding site | Structure of lens of eye | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set