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764688002: Autosomal recessive spastic paraplegia type 35 (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
3654873015 Autosomal recessive spastic paraplegia type 35 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654874014 Autosomal recessive spastic paraplegia type 35 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3654567011 A rare form of hereditary spastic paraplegia with characteristics of childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging. 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 35 Is a Hereditary spastic paraplegia false Inferred relationship Some
Autosomal recessive spastic paraplegia type 35 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 35 Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 35 Associated morphology Degeneration false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 35 Finding site Spinal cord structure false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 35 Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 35 Finding site Lower limb structure false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 35 Associated morphology Degenerative abnormality false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 35 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 35 Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 35 Clinical course Progressive (qualifier value) true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 35 Finding site Lower limb structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 35 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 35 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 35 Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 35 Finding site Structure of right lower limb (body structure) true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 35 Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 35 Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 35 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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