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


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


0 descendants.

Expanded Value Set


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

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