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782725000: Autosomal recessive spastic paraplegia type 69 (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
3755500019 Autosomal recessive spastic paraplegia type 69 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755501015 Autosomal recessive spastic paraplegia type 69 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755502010 Autosomal recessive spastic paraplegia type 69 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5405667013 A rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5405668015 A rare, complex hereditary spastic paraplegia disorder characterised by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment. 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 69 Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 69 Finding site Lower limb structure false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 69 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 69 Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 69 Associated morphology Degeneration false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 69 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 69 Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 69 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 69 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 69 Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 69 Interprets Movement false Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 69 Finding site Structure of right lower limb (body structure) true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 69 Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 69 Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 69 Has interpretation Absent true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 69 Finding site Structure of motor nervous system (body structure) true Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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