| syndroom van congenitale sideroblastische anemie, B-cel-immunodeficiëntie, periodieke koorts en ontwikkelingsachterstand (aandoening) | | syndroom van congenitale sideroblastische anemie, B-cel-immunodeficiëntie, periodieke koorts en ontwikkelingsachterstand | | syndroom met congenitale sideroblastische anemie-B-cel-immunodeficiëntie, periodieke koorts en ontwikkelingsachterstand
SFID-syndroom
| | Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome | | A form of constitutional sideroblastic anemia characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. |
| | Id | 765327005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D64.0 | | Term | Hereditaire sideroblastische anemie |
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| SNOMED CT to Orphanet simple map | 369861 |
| SNOMED CT to ICD-10 extended map | | Target | D64.0 | | Rule | TRUE | | Advice | ALWAYS D64.0 | 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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