| encefalopathie door prosaposinedeficiëntie (aandoening) | | encefalopathie door prosaposinedeficiëntie | | encefalopathie door deficiëntie van prosaposine
gecombineerde prosaposinedeficiëntie
| | Encephalopathy due to prosaposin deficiency | | Combined saposin deficiency
Combined prosaposin deficiency
| | A lysosomal storage disease belonging to the group of sphingolipidoses. |
| | Id | 720864008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E75.2 | | Term | Overige gespecificeerde sfingolipidosen |
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| SNOMED CT to Orphanet simple map | 139406 |
| SNOMED CT to ICD-10 extended map | | Target | E75.2 | | Rule | TRUE | | Advice | ALWAYS E75.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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