FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

783246000: Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)


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)


0 descendants.

Expanded Value Set


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

Back to Start