syndroom van pancreasinsufficiëntie, dyserytropoëtische anemie en hyperostose van calvaria (aandoening) | | syndroom van pancreasinsufficiëntie, dyserytropoëtische anemie en hyperostose van calvaria | | Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome | | A rare syndromic mitochondrial disease characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. |
| Id | 722207000 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | K86.8 | Term | Overige gespecificeerde ziekten van pancreas |
Target | D64.4 | Term | Congenitale dyserytropoëtische anemie |
Target | Q75.8 | Term | Overige gespecificeerde congenitale misvormingen van schedel- en aangezichtsbeenderen |
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SNOMED CT to Orphanet simple map | 199337 |
SNOMED CT to ICD-10 extended map | Target | E88.8 | Rule | TRUE | Advice | ALWAYS E88.8 | 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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