719808002: Chromosome Xp11.3 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Retina finding (finding)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Eye / vision finding\Globe finding (finding)\Retina finding (finding)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked recessive hereditary disease\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Chromosome Xp11.3 microdeletion syndrome (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3317982011	Chromosome Xp11.3 microdeletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3317983018	Chromosome Xp11.3 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3317984012	Aldred syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402211016	X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402212011	X-linked intellectual disability-retinitis pigmentosa syndrome is characterised by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3317982011	Chromosome Xp11.3 microdeletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3317983018	Chromosome Xp11.3 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3317984012	Aldred syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3317985013	This syndrome has characteristics of moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402211016	X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402212011	X-linked intellectual disability-retinitis pigmentosa syndrome is characterised by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
527071000274115	Aldred-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3452041001000116	X-chromosomale Intelligenzminderung-Retinitis pigmentosa-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5816391000241113	syndrome de microdélétion du chromosome Xp11.3	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5816401000241111	microdélétion Xp11.3	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5816391000241113	syndrome de microdélétion du chromosome Xp11.3	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5816401000241111	microdélétion Xp11.3	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
527071000274115	Aldred-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3452041001000116	X-chromosomale Intelligenzminderung-Retinitis pigmentosa-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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