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723823004: Autosomal recessive spastic paraplegia type 53 (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
3426271017 Autosomal recessive spastic paraplegia type 53 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3426272012 Autosomal recessive spastic paraplegia type 53 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403160013 Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403161012 Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterised by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3426271017 Autosomal recessive spastic paraplegia type 53 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3426272012 Autosomal recessive spastic paraplegia type 53 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3426273019 A very rare complex type of hereditary spastic paraplegia with characteristics of early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. Caused by mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403160013 Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403161012 Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterised by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3420171001000112 Spastische Paraplegie, autosomal-rezessive, Typ 53 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
886291000172113 SPG53 - spastic paraplegia type 53 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
962881000172117 paraplégie spastique autosomique récessive type 53 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
886291000172113 SPG53 - spastic paraplegia type 53 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
962881000172117 paraplégie spastique autosomique récessive type 53 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3420171001000112 Spastische Paraplegie, autosomal-rezessive, Typ 53 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 53 (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 53 (disorder) Is a Complicated hereditary spastic paraplegia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 53 (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 53 (disorder) Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 53 (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 53 (disorder) Finding site Spinal cord structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 53 (disorder) Finding site Cerebellar structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 53 (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 53 (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 53 (disorder) Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 53 (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 53 (disorder) Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 53 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 53 (disorder) Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic paraplegia type 53 (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 53 (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal recessive spastic paraplegia type 53 (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 53 (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 53 (disorder) Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 53 (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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