732949006: paraplégie spastique autosomique dominante type 6 (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \constatation à propos du dos\Finding of spinal region\constatation à propos de la moelle spinale\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \constatation à propos du système nerveux central\constatation à propos de la moelle spinale\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Paralytic syndrome of both lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Paralytic syndrome of both lower limbs (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Complete bilateral paralysis (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\syndrome paralytique (trouble)\Complete bilateral paralysis (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \Disease\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (disorder)
• \Disease\maladie chronique\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 6 (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
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
762711000241117	paraplégie spastique autosomique dominante type 6 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
952841000172118	SPG6 - spastic paraplegia type 6	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
982331000172114	paraplégie spastique autosomique dominante type 6	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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