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) | est un(e) (attribut) | anomalie congénitale des reins | 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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | localisation d'une constatation (attribut) | Renal tubule structure | true | Inferred relationship | Some | 1 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | morphologie associée (attribut) | Necrosis | true | Inferred relationship | Some | 1 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | true | Inferred relationship | Some | 2 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | morphologie associée (attribut) | Cataract | false | Inferred relationship | Some | 3 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | morphologie associée (attribut) | opacité | true | Inferred relationship | Some | 3 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 4 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | est un(e) (attribut) | lésion cérébrale traumatique ou non traumatique (trouble) | true | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | est un(e) (attribut) | Injury of lens | true | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | est un(e) (attribut) | Congenital cataract | true | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | est un(e) (attribut) | Disorder of brain (disorder) | false | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | est un(e) (attribut) | Renal tubular disorder | true | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | est un(e) (attribut) | insuffisance staturale | true | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | est un(e) (attribut) | Necrosis of cortex of kidney (disorder) | true | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | est un(e) (attribut) | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | ||
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | morphologie associée (attribut) | Necrosis | false | Inferred relationship | Some | 3 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | localisation d'une constatation (attribut) | Renal tubule structure | false | Inferred relationship | Some | 3 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | morphologie associée (attribut) | Congenital cataract | false | Inferred relationship | Some | 4 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 4 | |
| Congenital cataract, nephropathy, encephalopathy syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR