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782726004: autosomaal recessieve spastische paraplegie type 71 (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
3755503017 Autosomal recessive spastic paraplegia type 71 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755504011 Autosomal recessive spastic paraplegia type 71 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
8050911000146117 autosomaal recessieve spastische paraplegie type 71 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8050921000146110 autosomaal recessieve spastische paraplegie type 71 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8050931000146112 SPG71 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8735521000146110 autosomaal recessieve spastische paraparese type 71 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3755505012 Autosomal recessive spastic paraplegia type 71 is a rare genetic pure hereditary spastic paraplegia disorder with characteristics of infancy onset of crural spastic paraparesis with scissors gait, extensor plantar response and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal. 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 71 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 71 Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 71 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 71 Associated morphology degeneratie (afwijkende morfologie) false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 71 Is a Pure hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 71 Finding site Lower limb structure false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 71 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 71 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 71 Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 71 Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 71 Finding site Structure of right lower limb (body structure) true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 71 Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 71 Interprets Movement observable true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 71 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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