732948003: paraplégie spastique autosomique dominante type 10 (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 10 (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 10 (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 10 (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 10 (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 10 (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 10 (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 10 (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 10 (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 10 (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 10 (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 10 (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 10 (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (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 10 (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 10 (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 10 (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 10 (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 10 (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 10 (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 10 (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 10 (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 10 (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 10 (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 10 (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 10 (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 10 (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 10 (disorder)
• \Disease\maladie chronique\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 10 (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
3498419013	Autosomal dominant spastic paraplegia type 10 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498420019	Autosomal dominant spastic paraplegia type 10	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
762701000241119	paraplégie spastique autosomique dominante type 10 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
913331000172116	SPG10 - spastic paraplegia type 10	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
942841000172115	paraplégie spastique autosomique dominante type 10	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3499915016	A rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case. Caused by mutations in the KIF5A gene (12q13.13) encoding the protein kinesin heavy chain isoform 5A.	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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