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763374004: Autosomal dominant spastic paraplegia type 12 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3640260011 Autosomal dominant spastic paraplegia type 12 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3640261010 Autosomal dominant spastic paraplegia type 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404046016 A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404047013 A pure form of hereditary spastic paraplegia characterised by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3640260011 Autosomal dominant spastic paraplegia type 12 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3640261010 Autosomal dominant spastic paraplegia type 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3640262015 A pure form of hereditary spastic paraplegia with a childhood to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. The disease is caused by heterozygous mutation in the RTN2 gene on chromosome 19q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404046016 A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404047013 A pure form of hereditary spastic paraplegia characterised by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3415191001000110 Spastische Paraplegie, autosomal-dominante, Typ 12 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
891231000172115 paraplégie spastique autosomique dominante type 12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
897231000172110 SPG12 - spastic paraplegia type 12 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
891231000172115 paraplégie spastique autosomique dominante type 12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
897231000172110 SPG12 - spastic paraplegia type 12 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3415191001000110 Spastische Paraplegie, autosomal-dominante, Typ 12 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 dominant spastic paraplegia type 12 (disorder) Is a Pure hereditary spastic paraplegia true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 12 (disorder) Is a Autosomal dominant hereditary spastic paraplegia true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant spastic paraplegia type 12 (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spastic paraplegia type 12 (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 12 (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 12 (disorder) Finding site Spinal cord structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 12 (disorder) Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spastic paraplegia type 12 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 12 (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant spastic paraplegia type 12 (disorder) Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 12 (disorder) Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spastic paraplegia type 12 (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant spastic paraplegia type 12 (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal dominant spastic paraplegia type 12 (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant spastic paraplegia type 12 (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal dominant spastic paraplegia type 12 (disorder) Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 12 (disorder) Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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