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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.
Id765327005
StatusPrimitive
Pathological processafwijkend immuunproces
referentieset met complexe 'mapping' naar ICD-10
TargetD64.0
RuleTRUE
AdviceALWAYS D64.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified