723621000: syndrome de tétraplégie spastique-déficience intellectuelle-rétinite pigmentaire (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Spastic tetraplegia\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic tetraplegia\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
• \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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability 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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability 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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability 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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability 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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability 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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability 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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability 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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability 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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability 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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability 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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability 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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability 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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
• \Disease\affection dégénérative\affection dégénérative de l'œil\dégénérescence de la rétine\Retinal dystrophy\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Spastic tetraplegia, retinitis pigmentosa, intellectual disability 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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability 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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Hereditary retinal dystrophy\rétinite pigmentaire (trouble)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Paralytic syndrome of all four limbs (disorder)\Tetraplegia\Spastic tetraplegia\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Complete bilateral paralysis (disorder)\Tetraplegia\Spastic tetraplegia\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic tetraplegia\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
• \Disease\affection d'une extrémité\Spastic tetraplegia\Spastic tetraplegia, retinitis pigmentosa, intellectual disability 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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability 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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Spastic tetraplegia, retinitis pigmentosa, intellectual disability 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
1004001000172116	syndrome de quadriplégie, déficience intellectuelle, rétinite pigmentaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3425296013	Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3425297016	Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3425298014	Spastic quadriplegia, retinitis pigmentosa, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
759851000241110	syndrome de tétraplégie spastique-déficience intellectuelle-rétinite pigmentaire (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
961291000172110	syndrome de tétraplégie spastique-déficience intellectuelle-rétinite pigmentaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3425299018	This syndrome has characteristics of nonprogressive spastic paraplegia, retinitis pigmentosa and intellectual deficit. It has been described in two brothers born to consanguineous parents.	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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