723621000: Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of extremity (disorder)\Spastic tetraplegia (disorder)\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)

\Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic tetraplegia (disorder)\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\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)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Finding of head region\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\...

\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\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)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)

\Eye / vision finding\Globe finding\Retina finding (finding)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Paralytic syndrome of all four limbs (disorder)\Tetraplegia\Spastic tetraplegia (disorder)\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Complete bilateral paralysis\Tetraplegia\Spastic tetraplegia (disorder)\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic tetraplegia (disorder)\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Disease\Disorder of extremity (disorder)\Spastic tetraplegia (disorder)\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Degenerative disorder of eye\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and/or retina (disorder)\Retinal disorder\Degeneration of retina\Retinal dystrophy\Hereditary retinal dystrophy\Retinitis pigmentosa\Autosomal recessive retinitis pigmentosa\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)
\Disease\Developmental disorder\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

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

3980041000052117 syndrom ned spastisk tetraplegi, retinitis pigmentosa och intellektuell funktionsnedsättning sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)	Is a	mental retardation	false	Inferred relationship	Some
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)	Is a	Spastic tetraplegia (disorder)	true	Inferred relationship	Some
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)	Is a	Autosomal recessive retinitis pigmentosa	true	Inferred relationship	Some
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	1
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)	Finding site	Limb structure	true	Inferred relationship	Some	4
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)	Associated morphology	Dystrophy	true	Inferred relationship	Some	3
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)	Finding site	Retinal structure	true	Inferred relationship	Some	3
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
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
3980041000052117	syndrom ned spastisk tetraplegi, retinitis pigmentosa och intellektuell funktionsnedsättning	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)