719103009: paraplégie spastique autosomique récessive type 39 (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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (disorder)
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (disorder)
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (disorder)
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (disorder)
• \constatation à propos du système nerveux central\constatation à propos de la moelle spinale\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (disorder)
• \constatation à propos du système nerveux central\constatation à propos de la moelle spinale\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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 recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (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)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (disorder)
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (disorder)
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (disorder)
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (disorder)
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (disorder)
• \Disease\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (disorder)
• \Disease\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (disorder)
• \Disease\maladie chronique\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (disorder)
• \Disease\maladie chronique\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Autosomal recessive spastic paraplegia type 39 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3314993016	Autosomal recessive spastic paraplegia type 39 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3314994010	Autosomal recessive spastic paraplegia type 39	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3314995011	Spastic paraplegia due to neuropathy target esterase mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3314997015	Spastic paraplegia due to NTE (neuropathy target esterase) mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
753541000241112	paraplégie spastique autosomique récessive type 39 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
957371000172119	paraplégie spastique autosomique récessive type 39	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
978931000172118	paraplégie spastique due à une mutation de l'estérase neurotoxique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3314996012	This syndrome has characteristics of progressive spastic paraplegia and distal muscle wasting. So far, it has been described in two families. All affected individuals carried mutations in the neuropathy target esterase (NTE) gene, encoding a neural membrane protein.	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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