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 |
| 5402952018 | A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402953011 | A rare autosomal dominant association characterised clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3332217015 | Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3332218013 | Juvenile cataract, microcornea, renal glucosuria syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Is a | Microcornea | true | Inferred relationship | Some | ||
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Is a | Familial renal glucosuria | true | Inferred relationship | Some | ||
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Is a | Disorder of carbohydrate absorption | true | Inferred relationship | Some | ||
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Is a | Juvenile cataract (disorder) | true | Inferred relationship | Some | ||
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Associated morphology | kongenit lille statur | false | Inferred relationship | Some | 3 | |
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Finding site | Corneal structure | false | Inferred relationship | Some | 3 | |
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Finding site | Kidney structure | false | Inferred relationship | Some | 4 | |
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Finding site | Kidney structure | true | Inferred relationship | Some | 3 | |
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Associated morphology | Katarakt | false | Inferred relationship | Some | 5 | |
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Finding site | Lens clear | false | Inferred relationship | Some | 5 | |
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Finding site | Corneal structure | true | Inferred relationship | Some | 1 | |
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Associated morphology | kongenit lille statur | false | Inferred relationship | Some | 1 | |
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Associated morphology | Katarakt | false | Inferred relationship | Some | 2 | |
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Finding site | Lens clear | true | Inferred relationship | Some | 2 | |
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Associated morphology | Opacity | true | Inferred relationship | Some | 2 | |
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Is a | Metabolic renal disease (disorder) | true | Inferred relationship | Some | ||
| A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR