Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3758250014 | Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3758251013 | Megalocornea, spherophakia, secondary glaucoma syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3758253011 | A rare genetic non-syndromic developmental defect of the eye disorder with characteristics of congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate. Can be caused by homozygous mutation in the LTBP2 gene on chromosome 14q24. | en | Definition | Active | Case sensitive | SNOMED CT core |
3758254017 | A rare genetic non-syndromic developmental defect of the eye disorder with characteristics of congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal oedema and central scarring, as well as a high arched palate. Can be caused by homozygous mutation in the LTBP2 gene on chromosome 14q24. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Megalocornea, spherophakia, secondary glaucoma syndrome | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Megalocornea, spherophakia, secondary glaucoma syndrome | Finding site | Corneal structure | true | Inferred relationship | Some | 1 | |
Megalocornea, spherophakia, secondary glaucoma syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Megalocornea, spherophakia, secondary glaucoma syndrome | Is a | Megalocornea | true | Inferred relationship | Some | ||
Megalocornea, spherophakia, secondary glaucoma syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Megalocornea, spherophakia, secondary glaucoma syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Megalocornea, spherophakia, secondary glaucoma syndrome | Is a | Secondary glaucoma | true | Inferred relationship | Some | ||
Megalocornea, spherophakia, secondary glaucoma syndrome | Associated morphology | Enlargement | true | Inferred relationship | Some | 1 | |
Megalocornea, spherophakia, secondary glaucoma syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Megalocornea, spherophakia, secondary glaucoma syndrome | Is a | Congenital glaucoma | 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
Description inactivation indicator reference set