732949006: Autosomal dominant spastic paraplegia type 6 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Finding of back (finding)\Finding of spinal region\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Finding of movement\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Finding of movement\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Finding of movement\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Finding of movement\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Central nervous system finding\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Neurological finding\Motor nervous system finding (finding)\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\...
• \Paralytic syndrome of both lower limbs\Paraplegia\...
• \Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Complete bilateral paralysis\Paraplegia\...
• \Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Disease\Disorder of limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Disease\Disorder of limb\Disorder of lower limb\Disorder of left lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Disease\Disorder of limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Disease\Disorder of limb\Disorder of lower limb\Disorder of right lower extremity (disorder)\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic disorder of spinal cord (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6

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
3498421015	Autosomal dominant familial spastic paraplegia type 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498422010	Autosomal dominant spastic paraplegia type 6 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498423017	Autosomal dominant spastic paraplegia type 6	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403649015	A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403650015	A rare, pure or complex form of hereditary spastic paraplegia typically characterised by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498421015	Autosomal dominant familial spastic paraplegia type 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498422010	Autosomal dominant spastic paraplegia type 6 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498423017	Autosomal dominant spastic paraplegia type 6	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499916015	A form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. Caused by mutations in the NIPA1 gene (15q11.2) encoding the magnesium transporter NIPA1.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403649015	A rare, pure or complex form of hereditary spastic paraplegia typically characterized by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403650015	A rare, pure or complex form of hereditary spastic paraplegia typically characterised by presentation in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3385641001000117	Spastische Paraplegie, autosomal-dominante, Typ 6	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
952841000172118	SPG6 - spastic paraplegia type 6	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
982331000172114	paraplégie spastique autosomique dominante type 6	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
952841000172118	SPG6 - spastic paraplegia type 6	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
982331000172114	paraplégie spastique autosomique dominante type 6	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3385641001000117	Spastische Paraplegie, autosomal-dominante, Typ 6	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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