726622002: syndrome de paraplégie spastique-maladie de Paget (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (disorder)

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\ostéite déformante (trouble)\Spastic paraplegia with Paget disease of bone syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Spastic paraplegia with Paget disease of bone syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Spastic paraplegia with Paget disease of bone syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\ostéite déformante (trouble)\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spastic paraplegia with Paget disease of bone syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant hereditary spastic paraplegia\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (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\Spastic paraplegia with Paget disease of bone syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Spastic paraplegia with Paget disease of bone syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Spastic paraplegia with Paget disease of bone syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\ostéite déformante (trouble)\Spastic paraplegia with Paget disease of bone syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Spastic paraplegia with Paget disease of bone syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Spastic paraplegia with Paget disease of bone syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Spastic paraplegia with Paget disease of bone syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Spastic paraplegia with Paget disease of bone syndrome (disorder)
\Disease\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Spastic paraplegia with Paget disease of bone syndrome (disorder)
\Disease\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Spastic paraplegia with Paget disease of bone syndrome (disorder)
\Disease\maladie chronique\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Spastic paraplegia with Paget disease of bone syndrome (disorder)
\Disease\maladie chronique\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Spastic paraplegia with Paget disease of bone syndrome (disorder)
\Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Spastic paraplegia with Paget disease of bone 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

3451063010 Spastic paraplegia with Paget disease of bone syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3451064016 Spastic paraplegia with Paget disease of bone syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

762241000241111 syndrome de paraplégie spastique-maladie de Paget (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

977071000172115 syndrome de paraplégie spastique-maladie de Paget fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3451065015 An extremely rare, complex form of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported. Mutations in the VCP gene (9p13.3), encoding transitional endoplasmic reticulum ATPase, have been found to be causative for this disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spastic paraplegia with Paget disease of bone syndrome (disorder)	morphologie associée (attribut)	Degenerative abnormality	false	Inferred relationship	Some	1
Spastic paraplegia with Paget disease of bone syndrome (disorder)	est un(e) (attribut)	maladie chronique de l'appareil locomoteur	true	Inferred relationship	Some
Spastic paraplegia with Paget disease of bone syndrome (disorder)	est un(e) (attribut)	Autosomal dominant hereditary spastic paraplegia	true	Inferred relationship	Some
Spastic paraplegia with Paget disease of bone syndrome (disorder)	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	2
Spastic paraplegia with Paget disease of bone syndrome (disorder)	localisation d'une constatation (attribut)	membre inférieur	true	Inferred relationship	Some	1
Spastic paraplegia with Paget disease of bone syndrome (disorder)	morphologie associée (attribut)	Degenerative abnormality	true	Inferred relationship	Some	4
Spastic paraplegia with Paget disease of bone syndrome (disorder)	est un(e) (attribut)	ostéite déformante (trouble)	true	Inferred relationship	Some
Spastic paraplegia with Paget disease of bone syndrome (disorder)	est un(e) (attribut)	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
Spastic paraplegia with Paget disease of bone syndrome (disorder)	est un(e) (attribut)	Complicated hereditary spastic paraplegia	true	Inferred relationship	Some
Spastic paraplegia with Paget disease of bone syndrome (disorder)	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Spastic paraplegia with Paget disease of bone syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Spastic paraplegia with Paget disease of bone syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some
Spastic paraplegia with Paget disease of bone syndrome (disorder)	localisation d'une constatation (attribut)	membre inférieur	false	Inferred relationship	Some
Spastic paraplegia with Paget disease of bone syndrome (disorder)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	3
Spastic paraplegia with Paget disease of bone syndrome (disorder)	morphologie associée (attribut)	dégénérescence	false	Inferred relationship	Some	4
Spastic paraplegia with Paget disease of bone syndrome (disorder)	localisation d'une constatation (attribut)	moelle spinale (structure corporelle)	true	Inferred relationship	Some	4
Spastic paraplegia with Paget disease of bone syndrome (disorder)	localisation d'une constatation (attribut)	structure cérébelleuse	false	Inferred relationship	Some	4
Spastic paraplegia with Paget disease of bone syndrome (disorder)	morphologie associée (attribut)	dégénérescence	false	Inferred relationship	Some	1
Spastic paraplegia with Paget disease of bone syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	1
Spastic paraplegia with Paget disease of bone syndrome (disorder)	localisation d'une constatation (attribut)	moelle spinale (structure corporelle)	false	Inferred relationship	Some	1
Spastic paraplegia with Paget disease of bone syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Spastic paraplegia with Paget disease of bone syndrome (disorder)	localisation d'une constatation (attribut)	membre inférieur	false	Inferred relationship	Some	2

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
3451063010	Spastic paraplegia with Paget disease of bone syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3451064016	Spastic paraplegia with Paget disease of bone syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
762241000241111	syndrome de paraplégie spastique-maladie de Paget (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
977071000172115	syndrome de paraplégie spastique-maladie de Paget	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3451065015	An extremely rare, complex form of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported. Mutations in the VCP gene (9p13.3), encoding transitional endoplasmic reticulum ATPase, have been found to be causative for this disease.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core