autosomaal dominante hereditaire aandoening
gecombineerde immunodeficiëntie
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Combined immunodeficiency due to forkhead box N1 haploinsufficiency (disorder)
Combined immunodeficiency due to FOXN1 haploinsufficiency
Combined immunodeficiency due to forkhead box N1 haploinsufficiency
A rare non-severe combined immunodeficiency characterized by decreased numbers of T cells (particularly CD8+ T cells) and increased susceptibility to recurrent infections with variable severity (predominantly respiratory viral infections). Additional features may include thymic aplasia/hypoplasia, skin abnormalities including atopic dermatitis, hair loss and nail dystrophy. Symptoms may vary among patients (some patients may develop serious infections) and may ameliorate by age.
Id1363572000
StatusPrimitive
Pathological processafwijkend immuunproces
SNOMED CT to ICD-10 extended map
TargetD81.8
RuleTRUE
AdviceALWAYS D81.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified