Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3728383019 | Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3728384013 | MMCAT syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3728385014 | MMCAT (microcornea, myopic chorioretinal atrophy, telecanthus) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3728386010 | Microcornea, myopic chorioretinal atrophy, telecanthus syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3728387018 | A rare genetic developmental defect of the eye disease with characteristics of childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ectopia pupil and retinal detachment. There is evidence the disease is caused by homozygous mutation in the ADAMTS18 gene on chromosome 16q23. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4222031000052117 | syndrom med mikrokornea, myop korioretinal atrofi och telekantus | 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 |
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) | Finding site | Corneal structure | true | Inferred relationship | Some | 1 | |
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) | Associated morphology | Congenital smallness | true | Inferred relationship | Some | 1 | |
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) | Finding site | Choroidal structure | true | Inferred relationship | Some | 3 | |
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) | Associated morphology | Atrophy | true | Inferred relationship | Some | 2 | |
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) | Associated morphology | Atrophy | true | Inferred relationship | Some | 3 | |
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) | Is a | Chorioretinal atrophy | true | Inferred relationship | Some | ||
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) | Finding site | Retinal structure | true | Inferred relationship | Some | 2 | |
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) | Is a | Congenital malformation syndrome (disorder) | true | Inferred relationship | Some | ||
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) | Is a | Microcornea | true | Inferred relationship | Some | ||
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets