699297004: Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Deformity\Congenital deformity\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Finding of head region\Finding of face\Eyelid finding\Palpebral fissure finding\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Finding of head region\Finding of face\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Finding of head region\Finding of face\Disorder of face\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Finding of head region\Finding of face\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disorder of head\Disorder of face\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disorder of head\Disorder of face\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disorder of head\Disorder of face\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disorder of head\Disorder of face\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Eye / vision finding\Eyelid finding\Palpebral fissure finding\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Eye / vision finding\Eyelid finding\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of head\Disorder of eye region\Disorder of ocular adnexa\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of head\Disorder of face\Lesion of face\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of head\Disorder of face\Disorder of eyelid\Deformity of eyelid\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of head\Disorder of face\Disorder of eyelid\Lesion of eyelid\Narrowing of palpebral fissure\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of head\Disorder of face\Disorder of eyelid\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Developmental disorder\Developmental hereditary disorder\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital deformity of face\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ocular adnexa\Congenital anomaly of eyelid\Congenital blepharophimosis\Blepharophimosis, intellectual disability syndrome\Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type

Status: current, Primitive. Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1719991000168114	Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type	en	Synonym	Active	Initial character case insensitive	SNOMED Clinical Terms Australian extension
2983700013	Ohdo syndrome, Maat-Kievit-Brunner type	en	Synonym	Active	Case sensitive	SNOMED CT core
2983702017	Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
2983727012	X-linked Ohdo syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3643148017	Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3643149013	Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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