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719103009: Autosomal recessive spastic paraplegia type 39 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3314993016 Autosomal recessive spastic paraplegia type 39 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314994010 Autosomal recessive spastic paraplegia type 39 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314995011 Spastic paraplegia due to neuropathy target esterase mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314997015 Spastic paraplegia due to NTE (neuropathy target esterase) mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5401956018 A rare autosomal recessive complex spastic paraplegia characterized by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401957010 A rare autosomal recessive complex spastic paraplegia characterised by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3314993016 Autosomal recessive spastic paraplegia type 39 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3314993016 Autosomal recessive spastic paraplegia type 39 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314994010 Autosomal recessive spastic paraplegia type 39 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3314994010 Autosomal recessive spastic paraplegia type 39 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314995011 Spastic paraplegia due to neuropathy target esterase mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3314995011 Spastic paraplegia due to neuropathy target esterase mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3314997015 Spastic paraplegia due to NTE (neuropathy target esterase) mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3314996012 This syndrome has characteristics of progressive spastic paraplegia and distal muscle wasting. So far, it has been described in two families. All affected individuals carried mutations in the neuropathy target esterase (NTE) gene, encoding a neural membrane protein. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401956018 A rare autosomal recessive complex spastic paraplegia characterized by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401957010 A rare autosomal recessive complex spastic paraplegia characterised by upper motor neuron involvement and peripheral neuropathy with an onset between childhood and early adulthood. Patients present with progressive spasticity, hyperreflexia, and distal upper and lower muscle wasting. Reduced cognitive functioning and cerebellar ataxia have also been reported. MR imaging may reveal cerebellar and/or spinal cord atrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3442311001000116 Spastische Paraplegie, autosomal-rezessive, Typ 39 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
957371000172119 paraplégie spastique autosomique récessive type 39 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
978931000172118 paraplégie spastique due à une mutation de l'estérase neurotoxique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
957371000172119 paraplégie spastique autosomique récessive type 39 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
978931000172118 paraplégie spastique due à une mutation de l'estérase neurotoxique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3442311001000116 Spastische Paraplegie, autosomal-rezessive, Typ 39 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 39 Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 39 Is a Complicated hereditary spastic paraplegia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 39 Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 39 Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 39 Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 39 Finding site Spinal cord structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 39 Finding site Cerebellar structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 39 Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 39 Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 39 Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 39 Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 39 Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 39 Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 39 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 39 Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 39 Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal recessive spastic paraplegia type 39 Finding site Structure of right lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 39 Finding site Structure of left lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal recessive spastic paraplegia type 39 Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 39 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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