782670003: Autosomal dominant spastic paraplegia type 3 (disorder)

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 3 (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 3 (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 3 (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 3 (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 3 (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 3 (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 3 (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 3 (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 3 (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 3 (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 3 (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 3 (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 3 (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 3 (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 3 (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 3 (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 3 (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 3 (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 3 (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 3 (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 3 (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 3 (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 3 (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 3 (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 3 (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 3 (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 3 (disorder)
\Disease\maladie chronique\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal dominant hereditary spastic paraplegia\Autosomal dominant spastic paraplegia type 3 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3755087011 Autosomal dominant spastic paraplegia type 3 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3755088018 Autosomal dominant spastic paraplegia type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3755089014 Strumpell disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3755090017 A rare pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype. Typical characteristics include childhood-onset of minimally progressive bilateral mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy. Caused by heterozygous mutation in the ATL1 gene on chromosome 14q22. 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
Autosomal dominant spastic paraplegia type 3 (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Autosomal dominant spastic paraplegia type 3 (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 3 (disorder)	morphologie associée (attribut)	dégénérescence	false	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 3 (disorder)	localisation d'une constatation (attribut)	membre inférieur	true	Inferred relationship	Some	2
Autosomal dominant spastic paraplegia type 3 (disorder)	est un(e) (attribut)	Autosomal dominant hereditary spastic paraplegia	true	Inferred relationship	Some
Autosomal dominant spastic paraplegia type 3 (disorder)	localisation d'une constatation (attribut)	moelle spinale (structure corporelle)	true	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 3 (disorder)	morphologie associée (attribut)	Degenerative abnormality	true	Inferred relationship	Some	1
Autosomal dominant spastic paraplegia type 3 (disorder)	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	3

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
3755087011	Autosomal dominant spastic paraplegia type 3 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755088018	Autosomal dominant spastic paraplegia type 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3755089014	Strumpell disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3755090017	A rare pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype. Typical characteristics include childhood-onset of minimally progressive bilateral mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy. Caused by heterozygous mutation in the ATL1 gene on chromosome 14q22.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core