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726622002: Spastic paraplegia with Paget disease of bone syndrome (disorder)

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3451063010 Spastic paraplegia with Paget disease of bone syndrome (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3451064016 Spastic paraplegia with Paget disease of bone syndrome en Synonym Active Initial character case insensitive SNOMED CT core
3451065015 An extremely rare, complex form of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported. Mutations in the VCP gene (9p13.3), encoding transitional endoplasmic reticulum ATPase, have been found to be causative for this disease. en Definition Active Case sensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spastic paraplegia with Paget disease of bone syndrome Associated morphology Degenerative abnormality false Inferred relationship Some 1
Spastic paraplegia with Paget disease of bone syndrome Is a Chronic disease of musculoskeletal system true Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome Is a Autosomal dominant hereditary spastic paraplegia false Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome Clinical course Progressive true Inferred relationship Some 2
Spastic paraplegia with Paget disease of bone syndrome Finding site Structure of lower limb false Inferred relationship Some 1
Spastic paraplegia with Paget disease of bone syndrome Associated morphology Degenerative abnormality true Inferred relationship Some 4
Spastic paraplegia with Paget disease of bone syndrome Interprets Movement true Inferred relationship Some 7
Spastic paraplegia with Paget disease of bone syndrome Finding site Structure of right lower limb true Inferred relationship Some 5
Spastic paraplegia with Paget disease of bone syndrome Finding site Structure of left lower limb true Inferred relationship Some 6
Spastic paraplegia with Paget disease of bone syndrome Interprets Movement observable true Inferred relationship Some 1
Spastic paraplegia with Paget disease of bone syndrome Has interpretation Absent true Inferred relationship Some 1
Spastic paraplegia with Paget disease of bone syndrome Is a Autosomal dominant complex hereditary spastic paraplegia true Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome Is a Paget's disease of bone true Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome Is a Autosomal dominant hereditary disorder false Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome Is a Complicated hereditary spastic paraplegia false Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome Is a Inherited disorder of connective tissue false Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome Occurrence Congenital false Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome Finding site Structure of lower limb false Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome Finding site Bone structure true Inferred relationship Some 3
Spastic paraplegia with Paget disease of bone syndrome Associated morphology Degeneration false Inferred relationship Some 4
Spastic paraplegia with Paget disease of bone syndrome Finding site Spinal cord structure true Inferred relationship Some 4
Spastic paraplegia with Paget disease of bone syndrome Finding site Cerebellar structure false Inferred relationship Some 4
Spastic paraplegia with Paget disease of bone syndrome Associated morphology Degeneration false Inferred relationship Some 1
Spastic paraplegia with Paget disease of bone syndrome Occurrence Congenital false Inferred relationship Some 1
Spastic paraplegia with Paget disease of bone syndrome Finding site Spinal cord structure false Inferred relationship Some 1
Spastic paraplegia with Paget disease of bone syndrome Occurrence Congenital false Inferred relationship Some 2
Spastic paraplegia with Paget disease of bone syndrome Finding site Structure of lower limb false Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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