autosomaal recessieve spastische paraplegie type 63 (aandoening) | | autosomaal recessieve spastische paraplegie type 63 | | Autosomal recessive spastic paraplegia type 63 | | Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2. |
| Id | 726610000 | 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 |
|
SNOMED CT to Orphanet simple map | 401805 |
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 |
|
|