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723825006: Autosomal recessive spastic paraplegia type 55 (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3428260010 Autosomal recessive spastic paraplegia type 55 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3428261014 Autosomal recessive spastic paraplegia type 55 en Synonym Active Case insensitive SNOMED CT core
3428262019 A rare complex type of hereditary spastic paraplegia with characteristics of childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities and sensorimotor neuropathy. Caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12ORF65, mitochondrial. 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 55 Occurrence Congenital false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 55 Clinical course Progressive true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 55 Associated morphology Primary atrophy false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 55 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 55 Finding site Optic nerve structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 55 Is a SPOAN and SPOAN-related disorder true Inferred relationship Some
Autosomal recessive spastic paraplegia type 55 Finding site Structure of lower limb false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 55 Finding site Optic nerve structure true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 55 Associated morphology Primary atrophy true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 55 Interprets Movement true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 55 Finding site Structure of left lower limb true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 55 Finding site Structure of right lower limb true Inferred relationship Some 7
Autosomal recessive spastic paraplegia type 55 Interprets Movement observable true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 55 Has interpretation Absent true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 55 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 55 Is a Complicated hereditary spastic paraplegia false Inferred relationship Some
Autosomal recessive spastic paraplegia type 55 Occurrence Congenital false Inferred relationship Some
Autosomal recessive spastic paraplegia type 55 Finding site Structure of lower limb false Inferred relationship Some
Autosomal recessive spastic paraplegia type 55 Associated morphology Degeneration false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 55 Finding site Spinal cord structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 55 Finding site Cerebellar structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 55 Associated morphology Degeneration false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 55 Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 55 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 55 Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 55 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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