FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) est un(e) (attribut) Hereditary disorder of the visual system true Inferred relationship Some
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) localisation d'une constatation (attribut) cornée (structure corporelle) true Inferred relationship Some 1
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) est un(e) (attribut) Megalocornea true Inferred relationship Some
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) survenue (attribut) congénital 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) est un(e) (attribut) Secondary glaucoma true Inferred relationship Some
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) morphologie associée (attribut) Enlargement (morphologic abnormality) true Inferred relationship Some 1
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Megalocornea, spherophakia, secondary glaucoma syndrome (disorder) est un(e) (attribut) Congenital glaucoma (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start