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 |
3323594014 | Coloboma of macula with brachydactyly type B syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3323595010 | Coloboma of macula with brachydactyly type B syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3323596011 | Sorsby syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3323597019 | A malformation syndrome with the combination of bilateral coloboma of macula, horizontal pendular nystagmus, severe visual loss and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails, broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Inherited in a dominant manner. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
878471000172115 | syndrome de colobome maculaire-brachydactylie type B | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
1006071000172116 | syndrome de Sorsby | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
883541000172114 | coloboom van macula, brachydactylie type B | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
935591000172116 | syndroom van Sorsbys | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Coloboma of macula with brachydactyly type B syndrome (disorder) | Is a | Congenital anomaly of macula | false | Inferred relationship | Some | ||
Coloboma of macula with brachydactyly type B syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Coloboma of macula with brachydactyly type B syndrome (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Coloboma of macula with brachydactyly type B syndrome (disorder) | Is a | Congenital ocular coloboma (disorder) | false | Inferred relationship | Some | ||
Coloboma of macula with brachydactyly type B syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Coloboma of macula with brachydactyly type B syndrome (disorder) | Is a | Brachydactyly syndrome type B (disorder) | true | Inferred relationship | Some | ||
Coloboma of macula with brachydactyly type B syndrome (disorder) | Associated morphology | Abnormally short growth | true | Inferred relationship | Some | 3 | |
Coloboma of macula with brachydactyly type B syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Coloboma of macula with brachydactyly type B syndrome (disorder) | Finding site | Entire digit | true | Inferred relationship | Some | 3 | |
Coloboma of macula with brachydactyly type B syndrome (disorder) | Associated morphology | Congenital failure of fusion | false | Inferred relationship | Some | 4 | |
Coloboma of macula with brachydactyly type B syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Coloboma of macula with brachydactyly type B syndrome (disorder) | Finding site | Macula lutea structure | false | Inferred relationship | Some | 4 | |
Coloboma of macula with brachydactyly type B syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Coloboma of macula with brachydactyly type B syndrome (disorder) | Associated morphology | Abnormally short growth | false | Inferred relationship | Some | 5 | |
Coloboma of macula with brachydactyly type B syndrome (disorder) | Finding site | Entire digit | false | Inferred relationship | Some | 5 | |
Coloboma of macula with brachydactyly type B syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
Coloboma of macula with brachydactyly type B syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 3 | |
Coloboma of macula with brachydactyly type B syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
Coloboma of macula with brachydactyly type B syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Coloboma of macula with brachydactyly type B syndrome (disorder) | Finding site | Macula lutea structure | false | Inferred relationship | Some | 1 | |
Coloboma of macula with brachydactyly type B syndrome (disorder) | Is a | Congenital coloboma of macula lutea | true | Inferred relationship | Some | ||
Coloboma of macula with brachydactyly type B syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Coloboma of macula with brachydactyly type B syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Coloboma of macula with brachydactyly type B syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Coloboma of macula with brachydactyly type B syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Coloboma of macula with brachydactyly type B syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
Coloboma of macula with brachydactyly type B syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
Coloboma of macula with brachydactyly type B syndrome (disorder) | Finding site | Macula lutea structure | true | Inferred relationship | Some | 2 | |
Coloboma of macula with brachydactyly type B syndrome (disorder) | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Coloboma of macula with brachydactyly type B syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets