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763376002: autosomaal recessieve spastische paraplegie type 28 (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
3640266017 Autosomal recessive spastic paraplegia type 28 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3640267014 Autosomal recessive spastic paraplegia type 28 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6151651000146116 autosomaal recessieve spastische paraplegie type 28 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6151661000146118 autosomaal recessieve spastische paraplegie type 28 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6700651000146110 SPG28 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3640268016 A pure form of hereditary spastic paraplegia with a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs. The disease is caused by homozygous or compound heterozygous mutation in the DDHD1 gene on chromosome 14q22. 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 28 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 28 Is a Pure hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 28 Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 28 Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 28 Finding site Spinal cord structure false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 28 Associated morphology degeneratie (afwijkende morfologie) false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 28 Finding site Lower limb structure false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 28 Associated morphology Degenerative abnormality false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 28 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 28 Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 28 Finding site Lower limb structure false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 28 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 28 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 28 Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 28 Finding site Structure of right lower limb (body structure) true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 28 Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 28 Interprets Movement observable true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 28 Has interpretation Absent true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

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