723503006: Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Nanophthalmia (disorder)\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Nanophthalmia (disorder)\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal degeneration, nanophthalmos, 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 posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, 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\Microphthalmos\Nanophthalmia (disorder)\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Nanophthalmia (disorder)\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Nanophthalmia (disorder)\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal degeneration, nanophthalmos, 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 posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, 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\Microphthalmos\Nanophthalmia (disorder)\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Nanophthalmia (disorder)\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal degeneration, nanophthalmos, 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 posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Nanophthalmia (disorder)\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Retinal degeneration, nanophthalmos, 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 posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Nanophthalmia (disorder)\Retinal degeneration, nanophthalmos, 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 posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Nanophthalmia (disorder)\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital glaucoma\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Retinal degeneration, nanophthalmos, 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)\Degenerative disorder of eye\Degeneration of retina\Retinal degeneration, nanophthalmos, 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 posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, 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\Microphthalmos\Nanophthalmia (disorder)\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Nanophthalmia (disorder)\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal degeneration, nanophthalmos, 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 posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, 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\Microphthalmos\Nanophthalmia (disorder)\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Congenital glaucoma\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Nanophthalmia (disorder)\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Nanophthalmia (disorder)\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of posterior segment of eye\Congenital anomaly of retina\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Nanophthalmia (disorder)\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)
• \Disease\Developmental disorder\Congenital glaucoma\Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3424860014	Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424861013	Retinal degeneration, nanophthalmos, glaucoma syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424862018	Mackay Shek Carr syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403091017	Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403092012	Retinal degeneration-nanophthalmos-glaucoma syndrome is characterised by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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