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782746009: Autosomal recessive spastic paraplegia type 60 (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
3755575013 Autosomal recessive spastic paraplegia type 60 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755576014 Autosomal recessive spastic paraplegia type 60 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755577017 Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5405687014 Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5405688016 Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder characterised by infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild 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 60 Associated morphology Degeneration false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 60 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 60 Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 60 Finding site Lower limb structure false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 60 Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 60 Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 60 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 60 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 60 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 60 Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 60 Interprets Movement false Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 60 Finding site Structure of right lower limb (body structure) true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 60 Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 60 Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 60 Has interpretation Absent true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 60 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)

Description inactivation indicator reference set

GB English

US English

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