719808002: Chromosome Xp11.3 microdeletion syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \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)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\...
• \Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Retina finding (finding)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\affection dégénérative\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\trouble rétinien (trouble)\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\X-linked retinitis pigmentosa\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Chromosome Xp11.3 microdeletion syndrome (disorder)
• \Disease\trouble du développement\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
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

Expanded Value Set

This concept is not in any reference sets

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