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782746009: autosomaal recessieve spastische paraplegie type 60 (aandoening)


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
8050821000146118 autosomaal recessieve spastische paraplegie type 60 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8050831000146116 autosomaal recessieve spastische paraplegie type 60 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8050841000146112 SPG60 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8735471000146113 autosomaal recessieve spastische paraparese type 60 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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 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 degeneratie (afwijkende morfologie) 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 true 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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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