Status: current, Primitive. 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 | Case insensitive | SNOMED CT core |
3728384013 | MMCAT syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3728385014 | MMCAT (microcornea, myopic chorioretinal atrophy, telecanthus) syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3728386010 | Microcornea, myopic chorioretinal atrophy, telecanthus syndrome | en | Synonym | Active | Case insensitive | 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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome | Finding site | Corneal structure | true | Inferred relationship | Some | 1 | |
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome | Associated morphology | Congenital smallness | true | Inferred relationship | Some | 1 | |
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome | Finding site | Choroidal structure | true | Inferred relationship | Some | 3 | |
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome | Associated morphology | Atrophy | true | Inferred relationship | Some | 2 | |
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome | Associated morphology | Atrophy | true | Inferred relationship | Some | 3 | |
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome | Is a | Chorioretinal atrophy | true | Inferred relationship | Some | ||
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome | Finding site | Retinal structure | true | Inferred relationship | Some | 2 | |
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome | Is a | Congenital malformation syndrome | true | Inferred relationship | Some | ||
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome | Is a | Microcornea | true | Inferred relationship | Some | ||
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set