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


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Only initial character case insensitive (core metadata concept) SNOMED CT core
3451064016 Spastic paraplegia with Paget disease of bone syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5403567018 Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403568011 Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterised by a 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3451063010 Spastic paraplegia with Paget disease of bone syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3451064016 Spastic paraplegia with Paget disease of bone syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5403567018 Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403568011 Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterised by a 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3445701001000110 Spastische Paraplegie mit Paget-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
977071000172115 syndrome de paraplégie spastique-maladie de Paget fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
977071000172115 syndrome de paraplégie spastique-maladie de Paget fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3445701001000110 Spastische Paraplegie mit Paget-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spastic paraplegia with Paget disease of bone syndrome Is a Osteitis deformans (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia with Paget disease of bone syndrome Is a Autosomal dominant hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia with Paget disease of bone syndrome Is a Complicated hereditary spastic paraplegia (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia with Paget disease of bone syndrome Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia with Paget disease of bone syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia with Paget disease of bone syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia with Paget disease of bone syndrome Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia with Paget disease of bone syndrome Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spastic paraplegia with Paget disease of bone syndrome Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia with Paget disease of bone syndrome Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia with Paget disease of bone syndrome Finding site Cerebellar structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia with Paget disease of bone syndrome Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia with Paget disease of bone syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia with Paget disease of bone syndrome Finding site Spinal cord structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia with Paget disease of bone syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia with Paget disease of bone syndrome Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia with Paget disease of bone syndrome Associated morphology Degenerative abnormality (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia with Paget disease of bone syndrome Is a Chronic disease of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia with Paget disease of bone syndrome Is a Autosomal dominant hereditary spastic paraplegia false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia with Paget disease of bone syndrome Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia with Paget disease of bone syndrome Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia with Paget disease of bone syndrome Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia with Paget disease of bone syndrome Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 7
Spastic paraplegia with Paget disease of bone syndrome Finding site Structure of right lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic paraplegia with Paget disease of bone syndrome Finding site Structure of left lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Spastic paraplegia with Paget disease of bone syndrome Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia with Paget disease of bone syndrome Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia with Paget disease of bone syndrome Is a Autosomal dominant complex hereditary spastic paraplegia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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