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764736001: autosomaal recessieve spastische paraplegie type 43 (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3655163012 Autosomal recessive spastic paraplegia type 43 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3655164018 Autosomal recessive spastic paraplegia type 43 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6152621000146117 autosomaal recessieve spastische paraplegie type 43 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6152631000146115 autosomaal recessieve spastische paraplegie type 43 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6700741000146117 SPG43 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3654715010 A rare complex hereditary spastic paraplegia with childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery) have also been reported. 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 43 (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 43 (disorder) Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 43 (disorder) Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 43 (disorder) Finding site Lower limb structure false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 43 (disorder) Associated morphology degeneratie (afwijkende morfologie) false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 43 (disorder) Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 43 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 43 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 43 (disorder) Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 43 (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 43 (disorder) Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 43 (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 43 (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 43 (disorder) Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 43 (disorder) 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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