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723826007: Autosomal recessive spastic paraplegia type 57 (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3426280017 Autosomal recessive spastic paraplegia type 57 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3426281018 Autosomal recessive spastic paraplegia type 57 en Synonym Active Case insensitive SNOMED CT core
3426282013 Spastic paraplegia due to partial TFG deficiency en Synonym Active Initial character case insensitive SNOMED CT core
3426283015 An extremely rare, complex type of hereditary spastic paraplegia, with onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. Caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. 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 57 Clinical course Progressive true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 57 Associated morphology Primary atrophy false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 57 Finding site Optic nerve structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 57 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 57 Is a SPOAN and SPOAN-related disorder true Inferred relationship Some
Autosomal recessive spastic paraplegia type 57 Occurrence Congenital false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 57 Finding site Structure of lower limb false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 57 Finding site Optic nerve structure true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 57 Associated morphology Primary atrophy true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 57 Interprets Movement true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 57 Finding site Structure of left lower limb true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 57 Finding site Structure of right lower limb true Inferred relationship Some 7
Autosomal recessive spastic paraplegia type 57 Interprets Movement observable true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 57 Has interpretation Absent true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 57 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 57 Is a Complicated hereditary spastic paraplegia false Inferred relationship Some
Autosomal recessive spastic paraplegia type 57 Occurrence Congenital false Inferred relationship Some
Autosomal recessive spastic paraplegia type 57 Finding site Structure of lower limb false Inferred relationship Some
Autosomal recessive spastic paraplegia type 57 Associated morphology Degeneration false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 57 Finding site Spinal cord structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 57 Finding site Cerebellar structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 57 Associated morphology Degeneration false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 57 Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 57 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 57 Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 57 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

Unit of use quantity reference set

Description inactivation indicator reference set

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