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1187470001: autosomaal recessieve spastische paraparese type 75 (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
4673898016 Autosomal recessive spastic paraplegia type 75 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4673899012 Autosomal recessive spastic paraplegia type 75 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
13241821000146119 SPG75 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13305881000146117 autosomaal recessieve spastische paraplegie type 75 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13305891000146115 autosomaal recessieve spastische paraparese type 75 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13305901000146119 autosomaal recessieve spastische paraparese type 75 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
4673900019 A rare complex hereditary spastic paraplegia with characteristics of early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been 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 recessive spastic paraplegia type 75 (disorder) Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 75 (disorder) Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 75 (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 75 (disorder) Finding site Lower limb structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 75 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 75 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 75 (disorder) Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 75 (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 75 (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 75 (disorder) Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 75 (disorder) Has interpretation Absent true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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