Autosomal recessive hereditary disorder	Congenital anemia	Congenital immunodeficiency disease	Disorder of immune structure	Hereditary disorder of cellular element of blood	Hereditary disorder of immune system	Hereditary sideroblastic anemia	Immunodeficiency associated with chromosomal abnormality	Sideroblastic anemia
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Congenital sideroblastic anemia, B-cell immunodeficiency, periodic fever, developmental delay syndrome (disorder)
	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.
	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

Id	765327005
Status	Primitive

Due to

Chromosomal disorder

Has interpretation	Below reference range
Interprets	Red blood cell count

Has interpretation	Below reference range
Interprets	Measurement of total hemoglobin concentration

Finding site	Structure of immune system
Occurrence	Congenital

Pathological process

Abnormal immune process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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