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726610000: Autosomal recessive spastic paraplegia type 63 (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3450951012 Autosomal recessive spastic paraplegia type 63 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3450952017 Autosomal recessive spastic paraplegia type 63 en Synonym Active Case insensitive SNOMED CT core
3450953010 An extremely rare and complex form of hereditary spastic paraplegia with characteristics of onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 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 63 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 63 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 63 Clinical course Progressive true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 63 Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 63 Finding site Structure of right lower limb true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 63 Finding site Structure of left lower limb true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 63 Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 63 Has interpretation Absent true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 63 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 63 Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 63 Occurrence Congenital false Inferred relationship Some
Autosomal recessive spastic paraplegia type 63 Finding site Structure of lower limb false Inferred relationship Some
Autosomal recessive spastic paraplegia type 63 Associated morphology Degeneration false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 63 Finding site Spinal cord structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 63 Finding site Cerebellar structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 63 Associated morphology Degeneration false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 63 Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 63 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 63 Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 63 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

Description inactivation indicator reference set

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