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 | | 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. |
| Id | 726622002 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | G11.4 | Term | Hereditaire spastische paraplegie |
Target | M88.99 | Term | Ziekte van Paget van bot, niet gespecificeerd, lokalisatie niet gespecificeerd |
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SNOMED CT to Orphanet simple map | 329475 |
SNOMED CT to ICD-10 extended map | Target | G11.4 | Rule | TRUE | Advice | ALWAYS G11.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | M88.99 | Rule | TRUE | Advice | ALWAYS M88.99 | Correlation | SNOMED CT source code to target map code correlation not specified |
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