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766767001: Autosomal recessive spastic paraplegia type 67 (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3662554012 Autosomal recessive spastic paraplegia type 67 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3662555013 Autosomal recessive spastic paraplegia type 67 en Synonym Active Case insensitive SNOMED CT core
3662556014 An extremely rare complex hereditary spastic paraplegia with characteristics of infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities. 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 67 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 67 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 67 Clinical course Progressive true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 67 Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 67 Finding site Structure of right lower limb true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 67 Finding site Structure of left lower limb true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 67 Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 67 Has interpretation Absent true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 67 Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 67 Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 67 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 67 Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 67 Associated morphology Degeneration false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 67 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 67 Finding site Structure of lower limb false Inferred relationship Some 2

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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