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764686003: Autosomal recessive spastic paraplegia type 15 (disorder)


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
3654867016 Spastic paraplegia, retinal degeneration syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654869018 Kjellin syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3654870017 Autosomal recessive spastic paraplegia type 15 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654871018 Hereditary spastic paraparesis type 15 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654872013 Autosomal recessive spastic paraplegia type 15 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654868014 A complex form of hereditary spastic paraplegia with characteristics of a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4166971000052114 autosomalt recessiv spastisk paraplegi, typ 15 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive spastic paraplegia type 15 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 15 Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 15 Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 15 Finding site Lower limb structure false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 15 Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 15 Associated morphology degeneration false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 15 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 15 Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 15 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 15 Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 15 Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 15 Finding site Structure of right lower limb (body structure) true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 15 Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 15 Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 15 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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