1187278006: Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy syndrome
• \constatation à propos du dos\Finding of spinal region\constatation à propos de la moelle spinale\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spastic paraplegia, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy syndrome
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spastic paraplegia, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy syndrome
• \constatation à propos du système nerveux central\constatation à propos de la moelle spinale\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spastic paraplegia, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Chronic brain syndrome\Spastic paraplegia, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Spastic paraplegia, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spastic paraplegia, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\convulsion\trouble convulsif\Epilepsy\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \constatation à propos l'encéphale\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Chronic brain syndrome\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \affection de la tête\Disorder of brain (disorder)\...
• \Encephalomyelopathy (disorder)\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \trouble convulsif\Epilepsy\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Chronic brain syndrome\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Neurological finding\Seizure related finding\convulsion\trouble convulsif\Epilepsy\Spastic paraplegia, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Chronic brain syndrome\Spastic paraplegia, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Spastic paraplegia, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spastic paraplegia, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy syndrome
• \Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\trouble convulsif\Epilepsy\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\Chronic brain syndrome\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\trouble mental\Chronic mental disorder\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spastic paraplegia, severe developmental delay, epilepsy 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, severe developmental delay, epilepsy syndrome
• \Disease\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\maladie chronique\Chronic mental disorder\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\maladie chronique\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\maladie chronique\trouble neurologique chronique\Chronic paraplegia (disorder)\paraplégie spastique héréditaire (trouble)\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\maladie chronique\trouble neurologique chronique\Chronic brain syndrome\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\trouble du développement\retard de développement\Spastic paraplegia, severe developmental delay, epilepsy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4673084011	SPPRS (spastic paraplegia, psychomotor retardation, seizures) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4673085012	Spastic paraplegia, severe developmental delay, epilepsy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4673086013	Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4673092019	A rare genetic complex spastic paraplegia disorder with characteristics of infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.	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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