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770720005: autosomaal recessieve spastische paraplegie type 58 (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3702238015 Autosomal recessive spastic paraplegia type 58 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3702239011 Autosomal recessive spastic ataxia type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3702240013 Autosomal recessive spastic paraplegia type 58 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6152981000146114 autosomaal recessieve spastische paraplegie type 58 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6152991000146111 autosomaal recessieve spastische paraplegie type 58 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3702241012 A rare complex subtype of hereditary spastic paraplegia with characteristics of variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (such as clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (for example nystagmus) and distal amyotrophy in the upper and lower limbs. Caused by homozygous mutation in the KIF1C gene on chromosome 17p13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive spastic paraplegia type 58 Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 58 Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 58 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 58 Associated morphology degeneratie (afwijkende morfologie) false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 58 Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 58 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 58 Finding site Lower limb structure false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 58 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 58 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 58 Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 58 Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 58 Finding site Structure of right lower limb (body structure) true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 58 Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 58 Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 58 Has interpretation Absent true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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