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783094006: autosomaal recessieve spastische paraplegie type 14 (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
3757559011 Autosomal recessive spastic paraplegia type 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3757560018 Autosomal recessive spastic paraplegia type 14 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
8050731000146114 autosomaal recessieve spastische paraplegie type 14 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8050741000146118 autosomaal recessieve spastische paraplegie type 14 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8050751000146115 SPG14 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8735431000146111 autosomaal recessieve spastische paraparese type 14 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3757561019 A rare complex hereditary spastic paraplegia with characteristics of adulthood onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also 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 14 Associated morphology degeneratie (afwijkende morfologie) false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 14 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 14 Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 14 Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 14 Finding site Lower limb structure false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 14 Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 14 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 14 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 14 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 14 Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 14 Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 14 Finding site Structure of right lower limb (body structure) true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 14 Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 14 Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 14 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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