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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
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
7529431000172114 syndroom van spastische paraplegie, ernstige ontwikkelingsachterstand en epilepsie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
7529441000172119 syndroom van spastische paraparese, ernstige ontwikkelingsachterstand en epilepsie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spastic paraplegia, severe developmental delay, epilepsy syndrome Is a Intellectual disability true Inferred relationship Some
Spastic paraplegia, severe developmental delay, epilepsy syndrome Is a Chronic mental disorder false Inferred relationship Some
Spastic paraplegia, severe developmental delay, epilepsy syndrome Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Spastic paraplegia, severe developmental delay, epilepsy syndrome Is a Developmental delay true Inferred relationship Some
Spastic paraplegia, severe developmental delay, epilepsy syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Spastic paraplegia, severe developmental delay, epilepsy syndrome Is a Encephalomyelopathy (disorder) true Inferred relationship Some
Spastic paraplegia, severe developmental delay, epilepsy syndrome Is a Chronic brain syndrome true Inferred relationship Some
Spastic paraplegia, severe developmental delay, epilepsy syndrome Is a Epilepsy true Inferred relationship Some
Spastic paraplegia, severe developmental delay, epilepsy syndrome Clinical course Progressive (qualifier value) true Inferred relationship Some 1
Spastic paraplegia, severe developmental delay, epilepsy syndrome Finding site Cerebrum true Inferred relationship Some 2
Spastic paraplegia, severe developmental delay, epilepsy syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Spastic paraplegia, severe developmental delay, epilepsy syndrome Finding site Spinal cord structure true Inferred relationship Some 4
Spastic paraplegia, severe developmental delay, epilepsy syndrome Associated morphology Degenerative abnormality true Inferred relationship Some 4
Spastic paraplegia, severe developmental delay, epilepsy syndrome Finding site Lower limb structure (body structure) false Inferred relationship Some 5
Spastic paraplegia, severe developmental delay, epilepsy syndrome Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Spastic paraplegia, severe developmental delay, epilepsy syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Some 6
Spastic paraplegia, severe developmental delay, epilepsy syndrome Has interpretation Impaired true Inferred relationship Some 6
Spastic paraplegia, severe developmental delay, epilepsy syndrome Interprets Adaptation behavior (observable entity) true Inferred relationship Some 7
Spastic paraplegia, severe developmental delay, epilepsy syndrome Has interpretation Impaired true Inferred relationship Some 7
Spastic paraplegia, severe developmental delay, epilepsy syndrome Interprets Movement true Inferred relationship Some 8
Spastic paraplegia, severe developmental delay, epilepsy syndrome Finding site Structure of right lower limb (body structure) true Inferred relationship Some 5
Spastic paraplegia, severe developmental delay, epilepsy syndrome Interprets Movement observable true Inferred relationship Some 10
Spastic paraplegia, severe developmental delay, epilepsy syndrome Finding site Structure of left lower limb (body structure) true Inferred relationship Some 9
Spastic paraplegia, severe developmental delay, epilepsy syndrome Has interpretation Absent true Inferred relationship Some 10

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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