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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Finding of back (finding)\Finding of spinal region\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Central nervous system finding\Finding of spinal cord\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Finding of head and neck region\Head finding (finding)\...
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Finding of brain\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disorder of head (disorder)\Disorder of brain (disorder)\...
• \Encephalomyelopathy (disorder)\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Seizure disorder\Epilepsy\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Chronic brain syndrome\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Paralytic syndrome of both lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Paralytic syndrome of both lower limbs (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Paralytic syndrome of both lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Paralytic syndrome of both lower limbs (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of body system\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\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of body system\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\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of body system\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\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Mental disorder\Chronic mental disorder\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Chronic disease\Chronic mental disorder\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic paraplegia (disorder)\Hereditary spastic paraplegia\Complicated hereditary spastic paraplegia\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Spastic paraplegia, severe developmental delay, epilepsy syndrome
• \Disease\Developmental disorder\Developmental delay\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
5330441000052118	syndrom med spastisk paraplegi, allvarligt försenad utveckling och epilepsi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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