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


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4673891010 Autosomal recessive spastic paraplegia type 9B (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5399624011 A rare complex hereditary spastic paraplegia characterized by 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5399625012 A rare complex hereditary spastic paraplegia characterised by 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 Entire term case sensitive (core metadata concept) 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 (qualifier value) true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 9B Finding site Lower limb structure 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 (body structure) true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 9B Finding site Structure of left lower limb (body structure) 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

Component annotation with string value reference set (foundation metadata concept)

GB English

US English

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