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1187506008: autosomaal recessieve spastische paraparese type 77 (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4674029012 Autosomal recessive spastic paraplegia type 77 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4674030019 Autosomal recessive spastic paraplegia type 77 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
13241841000146113 SPG77 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13305911000146117 autosomaal recessieve spastische paraparese type 77 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13305921000146110 autosomaal recessieve spastische paraplegie type 77 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13305931000146112 autosomaal recessieve spastische paraparese type 77 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
4674031015 A rare pure or complex hereditary spastic paraplegia with characteristics of infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses may also be 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 77 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 77 Clinical course Progressive (qualifier value) true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 77 Finding site Lower limb structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 77 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 77 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 77 Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 77 Finding site Structure of right lower limb (body structure) true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 77 Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 77 Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 77 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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