FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

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
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
4001721000052111 syndrom med spastisk paraplegi och Pagets bensjukdom sv Synonym (core metadata concept) Active Only initial character 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
Spastic paraplegia with Paget disease of bone syndrome (disorder) Is a Osteitis deformans true Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome (disorder) Is a Autosomal dominant hereditary disorder false Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome (disorder) Is a Complicated hereditary spastic paraplegia false Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome (disorder) Occurrence Congenital false Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome (disorder) Finding site Lower limb structure false Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome (disorder) Finding site Bone structure true Inferred relationship Some 3
Spastic paraplegia with Paget disease of bone syndrome (disorder) Associated morphology degeneration false Inferred relationship Some 4
Spastic paraplegia with Paget disease of bone syndrome (disorder) Finding site Spinal cord structure true Inferred relationship Some 4
Spastic paraplegia with Paget disease of bone syndrome (disorder) Finding site Cerebellar structure false Inferred relationship Some 4
Spastic paraplegia with Paget disease of bone syndrome (disorder) Associated morphology degeneration false Inferred relationship Some 1
Spastic paraplegia with Paget disease of bone syndrome (disorder) Occurrence Congenital false Inferred relationship Some 1
Spastic paraplegia with Paget disease of bone syndrome (disorder) Finding site Spinal cord structure false Inferred relationship Some 1
Spastic paraplegia with Paget disease of bone syndrome (disorder) Occurrence Congenital false Inferred relationship Some 2
Spastic paraplegia with Paget disease of bone syndrome (disorder) Finding site Lower limb structure false Inferred relationship Some 2
Spastic paraplegia with Paget disease of bone syndrome (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) false Inferred relationship Some 1
Spastic paraplegia with Paget disease of bone syndrome (disorder) Is a Chronic disease of musculoskeletal system true Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome (disorder) Is a Autosomal dominant hereditary spastic paraplegia false Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 2
Spastic paraplegia with Paget disease of bone syndrome (disorder) Finding site Lower limb structure false Inferred relationship Some 1
Spastic paraplegia with Paget disease of bone syndrome (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Some 4
Spastic paraplegia with Paget disease of bone syndrome (disorder) Interprets Movement true Inferred relationship Some 7
Spastic paraplegia with Paget disease of bone syndrome (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Some 5
Spastic paraplegia with Paget disease of bone syndrome (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Some 6
Spastic paraplegia with Paget disease of bone syndrome (disorder) Interprets Movement observable true Inferred relationship Some 1
Spastic paraplegia with Paget disease of bone syndrome (disorder) Has interpretation Absent true Inferred relationship Some 1
Spastic paraplegia with Paget disease of bone syndrome (disorder) Is a Autosomal dominant complex hereditary spastic paraplegia (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start