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1187470001: Autosomal recessive spastic paraplegia type 75 (disorder)


Status: current, Primitive. Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4673898016 Autosomal recessive spastic paraplegia type 75 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
4673899012 Autosomal recessive spastic paraplegia type 75 en Synonym Active Case insensitive SNOMED CT core
4673900019 A rare complex hereditary spastic paraplegia with characteristics of early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported. 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 75 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 75 Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 75 Clinical course Progressive true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 75 Finding site Structure of lower limb false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 75 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 75 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 75 Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 75 Finding site Structure of right lower limb true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 75 Finding site Structure of left lower limb true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 75 Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 75 Has interpretation Absent true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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