| deficiëntie van L-ferritine (aandoening) | | deficiëntie van L-ferritine | | tekort aan L-ferritine
L-ferritinedeficiëntie
| | L-ferritin deficiency | | LFTD - L-ferritin deficiency
| | A rare genetic hematologic disease characterized by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalized seizures, atypical restless leg syndrome, mild neuropsychologic impairment, and progressive hair loss. Asymptomatic cases have also been reported. |
| | Id | 1217208003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E88.0 | | Term | Stofwisselingsstoornissen van plasmaproteïne, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 440731 |
| SNOMED CT to ICD-10 extended map | | Target | E88.0 | | Rule | TRUE | | Advice | ALWAYS E88.0 | 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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