| GRACILE-syndroom (aandoening) | | GRACILE-syndroom | | syndroom met groeiachterstand, aminoacidurie, cholestase, ijzerstapeling, lactaatacidose en vroeg overlijden
letaal neonataal metabool syndroom van Fins type
syndroom van Fellman
groeiachterstand-aminoacidurie-cholestase-ijzerstapeling-lactaatacidose-vroeg overlijden-syndroom
Fellman-ziekte
'growth retardation-amino aciduria-cholestasis-iron overload-lactic acidosis-early death'-syndroom
lactaatacidose met hepatische hemosiderose van Fins type
| | GRACILE syndrome | | Finnish lactic acidosis with hepatic hemosiderosis
Fellman syndrome
Finnish lethal neonatal metabolic syndrome
Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death
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| | Id | 703388005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 53693 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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