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782727008: Autosomal spastic paraplegia type 72 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3755506013 Autosomal spastic paraplegia type 72 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755507016 Autosomal spastic paraplegia type 72 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755508014 Autosomal spastic paraplegia type 72 is a rare genetic pure hereditary spastic paraplegia disorder with characteristics of early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and in some mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles. 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 spastic paraplegia type 72 Occurrence Congenital false Inferred relationship Some 1
Autosomal spastic paraplegia type 72 Associated morphology Degeneration false Inferred relationship Some 1
Autosomal spastic paraplegia type 72 Is a Autosomal hereditary disorder true Inferred relationship Some
Autosomal spastic paraplegia type 72 Is a Pure hereditary spastic paraplegia true Inferred relationship Some
Autosomal spastic paraplegia type 72 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal spastic paraplegia type 72 Finding site Lower limb structure false Inferred relationship Some 2
Autosomal spastic paraplegia type 72 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal spastic paraplegia type 72 Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Autosomal spastic paraplegia type 72 Interprets Movement true Inferred relationship Some 6
Autosomal spastic paraplegia type 72 Finding site Structure of right lower limb (body structure) true Inferred relationship Some 4
Autosomal spastic paraplegia type 72 Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal spastic paraplegia type 72 Interprets Movement observable true Inferred relationship Some 2
Autosomal spastic paraplegia type 72 Has interpretation Absent true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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