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726607007: Autosomal recessive spastic paraplegia type 26 (disorder)


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
3450928012 Autosomal recessive spastic paraplegia type 26 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3450929016 Autosomal recessive spastic paraplegia type 26 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3450930014 GM2 synthase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403540012 Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403541011 Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterised by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioural problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3450928012 Autosomal recessive spastic paraplegia type 26 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3450929016 Autosomal recessive spastic paraplegia type 26 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3450930014 GM2 synthase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3450931013 A rare complex type of hereditary spastic paraplegia with characteristics of the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria) and bladder disturbances. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403540012 Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403541011 Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterised by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioural problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3420951001000115 Spastische Paraplegie, autosomal-rezessive, Typ 26 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
928111000172113 paraplégie spastique autosomique récessive type 26 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
987441000172114 déficit en GM2 synthase fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
928111000172113 paraplégie spastique autosomique récessive type 26 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
987441000172114 déficit en GM2 synthase fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3420951001000115 Spastische Paraplegie, autosomal-rezessive, Typ 26 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
Autosomal recessive spastic paraplegia type 26 (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 26 (disorder) Is a Complicated hereditary spastic paraplegia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 26 (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 26 (disorder) Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 26 (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 26 (disorder) Finding site Spinal cord structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 26 (disorder) Finding site Cerebellar structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 26 (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 26 (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 26 (disorder) Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 26 (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 26 (disorder) Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 26 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 26 (disorder) Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 26 (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 26 (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal recessive spastic paraplegia type 26 (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 26 (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal recessive spastic paraplegia type 26 (disorder) Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 26 (disorder) Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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