783246000: syndroom van megalocornea, sferofakie en secundair glaucoom (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Secondary glaucoma\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Corneal finding\Disorder of cornea\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of cornea\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Glaucoma\Secondary glaucoma\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Secondary glaucoma\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Secondary glaucoma\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Globe finding\Anterior segment finding (finding)\Corneal finding\Disorder of cornea\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Disorder of cornea\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Eye / vision finding\Finding of eye region\Globe finding\Disorder of eye proper (disorder)\Glaucoma\Secondary glaucoma\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Secondary glaucoma\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Glaucoma\Secondary glaucoma\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital glaucoma\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Secondary glaucoma\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Disorder of cornea\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Secondary glaucoma\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Congenital structural abnormality of cornea\Megalocornea\Megalocornea, spherophakia, secondary glaucoma syndrome (disorder)
• \Disease\Developmental disorder\Congenital glaucoma\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
8468031000146113	syndroom van megalocornea, sferofakie en secundair glaucoom (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8468041000146117	syndroom van megalocornea, sferofakie en secundair glaucoom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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