723621000: Spastic tetraplegia, retinitis pigmentosa, intellectual disability 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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Finding of limb structure (finding)\Disorder of limb\Spastic tetraplegia (disorder)\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of all four limbs\Quadriplegia (disorder)\Spastic tetraplegia (disorder)\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Quadriplegia (disorder)\Spastic tetraplegia (disorder)\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Finding of movement\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Paralytic syndrome of all four limbs\Quadriplegia (disorder)\Spastic tetraplegia (disorder)\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Finding of movement\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Complete bilateral paralysis\Quadriplegia (disorder)\Spastic tetraplegia (disorder)\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic tetraplegia (disorder)\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Neurological finding\Motor nervous system finding (finding)\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\...
• \Paralytic syndrome of all four limbs\Quadriplegia (disorder)\Spastic tetraplegia (disorder)\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Complete bilateral paralysis\Quadriplegia (disorder)\Spastic tetraplegia (disorder)\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Disease\Degenerative disorder\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Retinal dystrophy (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy (disorder)\Retinitis pigmentosa (disorder)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Paralytic syndrome of all four limbs\Quadriplegia (disorder)\Spastic tetraplegia (disorder)\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Complete bilateral paralysis\Quadriplegia (disorder)\Spastic tetraplegia (disorder)\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic tetraplegia (disorder)\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Disease\Disorder of limb\Spastic tetraplegia (disorder)\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \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)\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of all four limbs\Quadriplegia (disorder)\Spastic tetraplegia (disorder)\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Quadriplegia (disorder)\Spastic tetraplegia (disorder)\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome

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
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
5403132011	A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403133018	A rare, genetic, syndromic intellectual disability disorder characterised by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
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
5403132011	A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403133018	A rare, genetic, syndromic intellectual disability disorder characterised by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3453361001000113	Spastische Tetraplegie-Retinitis pigmentosa-Intelligenzminderung-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
961291000172110	syndrome de tétraplégie spastique-déficience intellectuelle-rétinite pigmentaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1004001000172116	syndrome de quadriplégie, déficience intellectuelle, rétinite pigmentaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
961291000172110	syndrome de tétraplégie spastique-déficience intellectuelle-rétinite pigmentaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1004001000172116	syndrome de quadriplégie, déficience intellectuelle, rétinite pigmentaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3453361001000113	Spastische Tetraplegie-Retinitis pigmentosa-Intelligenzminderung-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)

Back to Start