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


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
5399608010 Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an 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
5399609019 Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterised by an 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
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
5399608010 Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an 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
5399609019 Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterised by an 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
3438911001000116 Spastische Paraplegie-schwere Entwicklungsverzögerungen-Epilepsie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3438911001000116 Spastische Paraplegie-schwere Entwicklungsverzögerungen-Epilepsie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Is a Chronic mental disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Is a Complicated hereditary spastic paraplegia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Is a Developmental delay true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Is a Encephalomyelopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Is a Chronic brain syndrome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Is a Epilepsy true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Finding site The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 7
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 8
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 10
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 9
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 10

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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