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 |
| 3331765016 | Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331766015 | Congenital cataract, nephropathy, encephalopathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3331767012 | Crome syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Is a | Congenital cataract | true | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Is a | Disorder of brain (disorder) | false | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Is a | Renal tubular disorder | true | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Is a | Necrosis of cortex of kidney (disorder) | true | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Associated morphology | Necrosis | false | Inferred relationship | Some | 3 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Finding site | Renal tubule structure (body structure) | false | Inferred relationship | Some | 3 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Associated morphology | Congenital cataract | false | Inferred relationship | Some | 4 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Finding site | Lens clear | false | Inferred relationship | Some | 4 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Finding site | Lens clear | true | Inferred relationship | Some | 3 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Is a | Congenital anomaly of the kidney | true | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Finding site | Renal tubule structure (body structure) | true | Inferred relationship | Some | 1 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Associated morphology | Necrosis | true | Inferred relationship | Some | 1 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 2 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Associated morphology | Cataract | false | Inferred relationship | Some | 3 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Associated morphology | Opacity | true | Inferred relationship | Some | 3 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 4 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Is a | Traumatic or nontraumatic brain injury | true | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | Is a | Injury of lens | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR