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732932004: Autosomal recessive spastic paraplegia type 18 (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3467555014 Autosomal recessive spastic paraplegia type 18 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3467556010 Autosomal recessive spastic paraplegia type 18 en Synonym Active Case insensitive SNOMED CT core
3467557018 A rare complex type of hereditary spastic paraplegia with characteristics of progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. This disease is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2. 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 18 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 18 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 18 Clinical course Progressive true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 18 Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 18 Finding site Structure of right lower limb true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 18 Finding site Structure of left lower limb true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 18 Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 18 Has interpretation Absent true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 18 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 18 Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 18 Occurrence Congenital false Inferred relationship Some
Autosomal recessive spastic paraplegia type 18 Finding site Structure of lower limb false Inferred relationship Some
Autosomal recessive spastic paraplegia type 18 Associated morphology Degeneration false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 18 Finding site Spinal cord structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 18 Finding site Cerebellar structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 18 Associated morphology Degeneration false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 18 Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 18 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 18 Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 18 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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