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1187467000: Autosomal recessive spastic paraplegia type 9B (disorder)


Status: current, Primitive. Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4673890011 Autosomal recessive spastic paraplegia type 9B en Synonym Active Initial character case insensitive SNOMED CT core
4673891010 Autosomal recessive spastic paraplegia type 9B (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
4673892015 A rare complex hereditary spastic paraplegia with characteristics of early onset of slowly progressive spastic para or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature and urinary incontinence. 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 9B Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 9B Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 9B Clinical course Progressive true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 9B Finding site Structure of lower limb false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 9B Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 9B Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 9B Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 9B Finding site Structure of right lower limb true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 9B Finding site Structure of left lower limb true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 9B Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 9B Has interpretation Absent true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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