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783622001: autosomaal dominante spastische paraplegie type 38 (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
3759543016 Autosomal dominant spastic paraplegia type 38 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3759544010 Autosomal dominant spastic paraplegia type 38 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
8050591000146117 autosomaal dominante spastische paraplegie type 38 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8050601000146110 autosomaal dominante spastische paraplegie type 38 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8050961000146115 SPG38 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8735391000146116 autosomaal dominante spastische paraparese type 38 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3759545011 A complex hereditary spastic paraplegia with characteristics of mild to severe lower limbs spasticity, hyperreflexia, extensor plantar responses, pes cavus and significant wasting and weakness of the small hand muscles. Impaired vibration sensation, temporal lobe epilepsy and cognitive dysfunction were also 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 dominant spastic paraplegia type 38 (disorder) Occurrence Congenital false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 38 (disorder) Occurrence Congenital false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 38 (disorder) Is a Complicated hereditary spastic paraplegia false Inferred relationship Some
Autosomal dominant spastic paraplegia type 38 (disorder) Is a Autosomal dominant hereditary spastic paraplegia false Inferred relationship Some
Autosomal dominant spastic paraplegia type 38 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 38 (disorder) Associated morphology degeneratie (afwijkende morfologie) false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 38 (disorder) Finding site Lower limb structure false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 38 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 38 (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 38 (disorder) Interprets Movement true Inferred relationship Some 6
Autosomal dominant spastic paraplegia type 38 (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Some 4
Autosomal dominant spastic paraplegia type 38 (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal dominant spastic paraplegia type 38 (disorder) Interprets Movement observable true Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 38 (disorder) Has interpretation Absent true Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 38 (disorder) Is a Autosomal dominant complex hereditary spastic paraplegia (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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