733455003: syndrome de paraplégie spastique-glaucome-déficience intellectuelle (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\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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, glaucoma, intellectual disability syndrome
\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\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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, glaucoma, intellectual disability syndrome
\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\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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, glaucoma, intellectual disability syndrome

\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\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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, glaucoma, intellectual disability syndrome
\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\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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, glaucoma, intellectual disability syndrome
\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\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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, glaucoma, intellectual disability syndrome
\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\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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, glaucoma, intellectual disability syndrome

\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\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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, glaucoma, intellectual disability syndrome
\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\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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, glaucoma, intellectual disability syndrome
\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\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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, glaucoma, intellectual disability syndrome
\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\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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, glaucoma, intellectual disability syndrome

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Finding of head region\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Glaucoma\Spastic paraplegia, glaucoma, intellectual disability syndrome

\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Spastic paraplegia, glaucoma, intellectual disability syndrome

\constatation à propos des yeux ou de la vue\constatation à propos d'un globe oculaire\Disorder of eye proper (disorder)\Glaucoma\Spastic paraplegia, glaucoma, intellectual disability syndrome
\constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Spastic paraplegia, glaucoma, intellectual disability syndrome
\constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Spastic paraplegia, glaucoma, intellectual disability syndrome

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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, glaucoma, intellectual disability syndrome
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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, glaucoma, intellectual disability syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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, glaucoma, intellectual disability syndrome
\Disease\affection d'un système corporel\affection du système visuel\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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, glaucoma, intellectual disability syndrome
\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\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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, glaucoma, intellectual disability syndrome
\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\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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, glaucoma, intellectual disability syndrome
\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\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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, glaucoma, intellectual disability syndrome
\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\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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, glaucoma, intellectual disability syndrome
\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\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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, glaucoma, intellectual disability syndrome
\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\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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, glaucoma, intellectual disability syndrome
\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\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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, glaucoma, intellectual disability syndrome
\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\Spastic paraplegia, glaucoma, intellectual disability syndrome
\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, glaucoma, intellectual disability syndrome
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\affection de la tête\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Glaucoma\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\trouble mental\Chronic mental disorder\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\maladie chronique\Chronic mental disorder\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\maladie chronique\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\maladie chronique\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Spastic paraplegia, glaucoma, intellectual disability syndrome
\Disease\trouble du développement\Developmental hereditary disorder\Spastic paraplegia, glaucoma, intellectual disability syndrome

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

3499466016 Spastic paraplegia, glaucoma, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3499467013 Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

763111000241110 syndrome de paraplégie spastique-glaucome-déficience intellectuelle (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

913781000172116 syndrome de paraplégie spastique-glaucome-déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3500003016 Syndrome with characteristics of progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. 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, glaucoma, intellectual disability syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Spastic paraplegia, glaucoma, intellectual disability syndrome	morphologie associée (attribut)	Degenerative abnormality	true	Inferred relationship	Some	4
Spastic paraplegia, glaucoma, intellectual disability syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	4
Spastic paraplegia, glaucoma, intellectual disability syndrome	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Spastic paraplegia, glaucoma, intellectual disability syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Spastic paraplegia, glaucoma, intellectual disability syndrome	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	false	Inferred relationship	Some	2
Spastic paraplegia, glaucoma, intellectual disability syndrome	est un(e) (attribut)	Autosomal recessive hereditary spastic paraplegia	true	Inferred relationship	Some
Spastic paraplegia, glaucoma, intellectual disability syndrome	est un(e) (attribut)	Chronic mental disorder	true	Inferred relationship	Some
Spastic paraplegia, glaucoma, intellectual disability syndrome	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	3
Spastic paraplegia, glaucoma, intellectual disability syndrome	est un(e) (attribut)	Glaucoma	true	Inferred relationship	Some
Spastic paraplegia, glaucoma, intellectual disability syndrome	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	true	Inferred relationship	Some	1
Spastic paraplegia, glaucoma, intellectual disability syndrome	localisation d'une constatation (attribut)	membre inférieur	true	Inferred relationship	Some	2
Spastic paraplegia, glaucoma, intellectual disability syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
Spastic paraplegia, glaucoma, intellectual disability syndrome	est un(e) (attribut)	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Spastic paraplegia, glaucoma, intellectual disability syndrome	est un(e) (attribut)	Mental retardation	false	Inferred relationship	Some
Spastic paraplegia, glaucoma, intellectual disability syndrome	est un(e) (attribut)	Congenital glaucoma (disorder)	false	Inferred relationship	Some
Spastic paraplegia, glaucoma, intellectual disability syndrome	est un(e) (attribut)	Complicated hereditary spastic paraplegia	true	Inferred relationship	Some
Spastic paraplegia, glaucoma, intellectual disability syndrome	est un(e) (attribut)	Hereditary disorder of the visual system	true	Inferred relationship	Some
Spastic paraplegia, glaucoma, intellectual disability syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Spastic paraplegia, glaucoma, intellectual disability syndrome	localisation d'une constatation (attribut)	Structure of eye proper (body structure)	false	Inferred relationship	Some	3
Spastic paraplegia, glaucoma, intellectual disability syndrome	morphologie associée (attribut)	dégénérescence	false	Inferred relationship	Some	4
Spastic paraplegia, glaucoma, intellectual disability syndrome	localisation d'une constatation (attribut)	moelle spinale (structure corporelle)	true	Inferred relationship	Some	4
Spastic paraplegia, glaucoma, intellectual disability syndrome	localisation d'une constatation (attribut)	structure cérébelleuse	false	Inferred relationship	Some	4
Spastic paraplegia, glaucoma, intellectual disability syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	5
Spastic paraplegia, glaucoma, intellectual disability syndrome	localisation d'une constatation (attribut)	membre inférieur	false	Inferred relationship	Some	5
Spastic paraplegia, glaucoma, intellectual disability syndrome	morphologie associée (attribut)	dégénérescence	false	Inferred relationship	Some	1
Spastic paraplegia, glaucoma, intellectual disability syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	1
Spastic paraplegia, glaucoma, intellectual disability syndrome	localisation d'une constatation (attribut)	moelle spinale (structure corporelle)	false	Inferred relationship	Some	1
Spastic paraplegia, glaucoma, intellectual disability syndrome	est un(e) (attribut)	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3499466016	Spastic paraplegia, glaucoma, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499467013	Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
763111000241110	syndrome de paraplégie spastique-glaucome-déficience intellectuelle (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
913781000172116	syndrome de paraplégie spastique-glaucome-déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3500003016	Syndrome with characteristics of progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core