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764734003: autosomaal recessieve spastische paraplegie type 21 (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
3655159017 Autosomal recessive spastic paraplegia type 21 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3655160010 Autosomal recessive spastic paraplegia type 21 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3655162019 Mast syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6203701000146115 autosomaal recessieve spastische paraplegie type 21 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6203711000146118 autosomaal recessieve spastische paraplegie type 21 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6700531000146117 SPG21 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6700541000146113 syndroom van Mast nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3655161014 A complex type of hereditary spastic paraplegia with onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (oromandibular dyskinesia, rigidity) and cerebellar (dysdiadochokinesia and incoordination) signs. Subtle abnormalities (for example developmental delay) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging. 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 21 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 21 Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 21 Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 21 Finding site Lower limb structure false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 21 Associated morphology degeneratie (afwijkende morfologie) false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 21 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 21 Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 21 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 21 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 21 Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 21 Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 21 Finding site Structure of right lower limb (body structure) true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 21 Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 21 Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 21 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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