Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3440664017 | Aland Islands eye disease (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3440665016 | Aland Islands eye disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3440666015 | Forsius Eriksson syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3440667012 | Forsius Eriksson type ocular albinism | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3440668019 | An X-linked recessive retinal disease with characteristics of fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia. A very rare disease originally reported in a family from Aland Island in the Bothnia Sea. Caused by mutations in the CACNA1F gene. Some mutations in CACNAF1 are associated with CSNB2 suggesting allelism of the two disorders. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Aland Islands eye disease (disorder) | Is a | Hereditary retinal dystrophy | true | Inferred relationship | Some | ||
Aland Islands eye disease (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
Aland Islands eye disease (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
Aland Islands eye disease (disorder) | Finding site | Retinal structure | true | Inferred relationship | Some | 1 | |
Aland Islands eye disease (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets