| 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 | | Disease that is 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. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin replacement. Stem cell transplantation has been reported to be successful. Caused by homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26. |
| | 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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