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778030005: Autosomal recessive spastic paraplegia type 27 (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3737335011 Autosomal recessive spastic paraplegia type 27 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737336012 Autosomal recessive spastic paraplegia type 27 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3737340015 A rare pure or complex hereditary spastic paraplegia with characteristics of variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability. 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 27 Is a Hereditary spastic paraplegia false Inferred relationship Some
Autosomal recessive spastic paraplegia type 27 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 27 Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 27 Associated morphology Degeneration false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 27 Finding site Lower limb structure false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 27 Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 27 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 27 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 27 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 27 Clinical course Progressive (qualifier value) true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 27 Finding site Lower limb structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 27 Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 27 Finding site Structure of right lower limb (body structure) true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 27 Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 27 Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 27 Has interpretation Absent true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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