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 |
| 3314136013 | This syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. This very rare syndrome has only been described in three families, one of which contained a few dozen affected individuals spanning eight generations. The disorder is transmitted as an autosomal dominant trait and is caused by dysfunction of the PITX3 gene (localised to 10q25). This gene codes for a transcription factor involved in the development of the lens and anterior segment of the eye. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314137016 | This syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. This very rare syndrome has only been described in three families, one of which contained a few dozen affected individuals spanning eight generations. The disorder is transmitted as an autosomal dominant trait and is caused by dysfunction of the PITX3 gene (localized to 10q25). This gene codes for a transcription factor involved in the development of the lens and anterior segment of the eye. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401887015 | Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401888013 | Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3314134011 | Cataract glaucoma syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3314135012 | Cataract glaucoma 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 |
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Is a | Congenital total cataract | false | Inferred relationship | Some | ||
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Is a | Secondary glaucoma | true | Inferred relationship | Some | ||
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Is a | Bilateral cataracts | false | Inferred relationship | Some | ||
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Associated morphology | Congenital cataract | false | Inferred relationship | Some | 2 | |
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Finding site | Structure of lens of left eye | true | Inferred relationship | Some | 2 | |
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Associated morphology | Congenital cataract | false | Inferred relationship | Some | 3 | |
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Finding site | Structure of lens of right eye | false | Inferred relationship | Some | 2 | |
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Finding site | Structure of lens of left eye | false | Inferred relationship | Some | 3 | |
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Is a | Congenital cataract of bilateral eyes (disorder) | true | Inferred relationship | Some | ||
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Finding site | Structure of lens of right eye | true | Inferred relationship | Some | 1 | |
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Associated morphology | Katarakt | false | Inferred relationship | Some | 2 | |
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Associated morphology | Katarakt | false | Inferred relationship | Some | 1 | |
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Associated morphology | Opacity | true | Inferred relationship | Some | 1 | |
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Associated morphology | Opacity | true | Inferred relationship | Some | 2 | |
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Is a | Congenital glaucoma of left eye | true | Inferred relationship | Some | ||
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Is a | Congenital glaucoma of right eye (disorder) | true | Inferred relationship | Some | ||
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Interprets | Red reflex (observable entity) | true | Inferred relationship | Some | 4 | |
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Has interpretation | Absent | true | Inferred relationship | Some | 4 | |
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Is a | Mature cataract | true | Inferred relationship | Some | ||
| Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. | Is a | Glaucoma of bilateral eyes (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR