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782725000: Autosomal recessive spastic paraplegia type 69 (disorder)


Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3755500019 Autosomal recessive spastic paraplegia type 69 en Synonym Active Case insensitive SNOMED CT core
3755501015 Autosomal recessive spastic paraplegia type 69 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3755502010 Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment. 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 69 Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 69 Finding site Structure of lower limb false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 69 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 69 Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 69 Associated morphology Degeneration false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 69 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 69 Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 69 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 69 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 69 Clinical course Progressive true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 69 Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 69 Finding site Structure of right lower limb true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 69 Finding site Structure of left lower limb true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 69 Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 69 Has interpretation Absent true Inferred relationship Some 4

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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