Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4634910013 | Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4634911012 | Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4634912017 | A rare genetic retinal disorder with characteristics of bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling and mild hypermetropic astigmatism may be associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5327291000052110 | syndrom med familjär progressiv retinal dystrofi, kolobom i regnbågshinna och medfödd katarakt | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) | Is a | Chronic disease | true | Inferred relationship | Some | ||
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) | Is a | Hereditary retinal dystrophy | true | Inferred relationship | Some | ||
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) | Is a | Disorder of right eye (disorder) | true | Inferred relationship | Some | ||
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) | Is a | Disorder of left eye | true | Inferred relationship | Some | ||
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) | Is a | Congenital coloboma of iris | true | Inferred relationship | Some | ||
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 4 | |
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) | Finding site | Structure of iris of right eye | true | Inferred relationship | Some | 1 | |
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) | Finding site | Structure of iris of left eye | true | Inferred relationship | Some | 2 | |
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) | Finding site | Retinal structure | true | Inferred relationship | Some | 3 | |
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets