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Immunodeficiency due to ficolin 3 deficiency (disorder)
Immunodeficiency due to ficolin 3 deficiency
Immunodeficiency due to ficolin-3 deficiency
A rare genetic immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin 3 levels, susceptibility to infections and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients clinical consequences of ficolin 3 deficiency were not clear. There is evidence that ficolin 3 deficiency is caused by homozygous mutation in the FCN3 gene on chromosome 1p36.
immunodeficiëntie door ficoline-3-deficiëntie
immunodeficiëntie door FCN-3-deficiëntie
Id766705006
StatusPrimitive
Pathological processAbnormal immune process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetD84.1
RuleTRUE
AdviceALWAYS D84.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified