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785304005: autosomaal recessieve spastische paraplegie type 24 (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
3766853013 Autosomal recessive spastic paraplegia type 24 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3766854019 Autosomal recessive spastic paraplegia type 24 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
8050761000146117 autosomaal recessieve spastische paraplegie type 24 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8050771000146111 autosomaal recessieve spastische paraplegie type 24 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8050781000146113 SPG24 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8735451000146117 autosomaal recessieve spastische paraparese type 24 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3766855018 A very rare pure form of spastic paraplegia with characteristics of onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated. 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 24 Associated morphology degeneratie (afwijkende morfologie) false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 24 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 24 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 24 Is a Pure hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 24 Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 24 Finding site Lower limb structure false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 24 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 24 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 24 Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 24 Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 24 Finding site Structure of right lower limb (body structure) true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 24 Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 24 Interprets Movement observable true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 24 Has interpretation Absent true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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