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autosomaal recessieve agammaglobulinemie (aandoening)
autosomaal recessieve agammaglobulinemie
Autosomal recessive agammaglobulinemia
A rare form of agammaglobulinemia, a primary immunodeficiency disease, characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea. Caused by homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32.
Id1297036006
StatusPrimitive
Finding sitestructuur van immuunsysteem
Occurrencecongenitaal
Pathological processafwijkend immuunproces
SNOMED CT to ICD-10 extended map
TargetD80.0
RuleTRUE
AdviceALWAYS D80.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified