Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3758251013 | Megalocornea, spherophakia, secondary glaucoma syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
13982281000172110 | syndrome de mégalocornée, sphérophakie et glaucome secondaire | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
5066221000172111 | syndroom van megalocornea, sferofakie en secundair glaucoom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) | Finding site | Corneal structure | true | Inferred relationship | Some | 1 | |
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) | Is a | Megalocornea | true | Inferred relationship | Some | ||
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) | Is a | Secondary glaucoma | true | Inferred relationship | Some | ||
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) | Associated morphology | Enlargement (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) | Is a | Congenital glaucoma | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets