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1172631001: Autosomal recessive spastic paraplegia type 76 (disorder)


Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4634876010 Autosomal recessive spastic paraplegia type 76 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
4634878011 Autosomal recessive spastic paraplegia type 76 en Synonym Active Case insensitive SNOMED CT core
4634877018 A rare complex hereditary spastic paraplegia with characteristics of adult onset slowly progressive mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration. 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 76 Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 76 Is a Chronic paraplegia false Inferred relationship Some
Autosomal recessive spastic paraplegia type 76 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 76 Clinical course Progressive true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 76 Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 76 Finding site Spinal cord structure true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 76 Associated morphology Degenerative abnormality true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 76 Occurrence Congenital false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 76 Finding site Structure of lower limb false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 76 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 76 Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 76 Finding site Structure of right lower limb true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 76 Finding site Structure of left lower limb true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 76 Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 76 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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