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syndroom van spastische paraplegie met botziekte van Paget (aandoening)
syndroom van spastische paraplegie met botziekte van Paget
syndroom van spastische paraplegie met osteitis deformans
Spastic paraplegia with Paget disease of bone syndrome
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.
Id726622002
StatusPrimitive
Finding sitebotstructuur
Clinical courseprogressief
InterpretsMovement
Has interpretationafwezig
InterpretsMovement observable
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG11.4
TermHereditaire spastische paraplegie
TargetM88.99
TermZiekte van Paget van bot, niet gespecificeerd, lokalisatie niet gespecificeerd
SNOMED CT to Orphanet simple map329475
SNOMED CT to ICD-10 extended map
TargetG11.4
RuleTRUE
AdviceALWAYS G11.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetM88.99
RuleTRUE
AdviceALWAYS M88.99
CorrelationSNOMED CT source code to target map code correlation not specified