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764734003: Autosomal recessive spastic paraplegia type 21 (disorder)


Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3655159017 Autosomal recessive spastic paraplegia type 21 en Synonym Active Case insensitive SNOMED CT core
3655160010 Autosomal recessive spastic paraplegia type 21 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3655162019 Mast syndrome en Synonym Active Case sensitive SNOMED CT core
3655161014 A complex type of hereditary spastic paraplegia with onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (oromandibular dyskinesia, rigidity) and cerebellar (dysdiadochokinesia and incoordination) signs. Subtle abnormalities (for example developmental delay) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive spastic paraplegia type 21 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 21 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 21 Clinical course Progressive true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 21 Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 21 Finding site Structure of right lower limb true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 21 Finding site Structure of left lower limb true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 21 Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 21 Has interpretation Absent true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 21 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 21 Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 21 Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 21 Finding site Structure of lower limb false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 21 Associated morphology Degeneration false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 21 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 21 Occurrence Congenital false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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