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gecombineerde immunodeficiëntie door deficiëntie van 'mucosa-associated lymphoid tissue lymphoma translocation gene 1' (aandoening)
gecombineerde immuundeficiëntie door MALT1-deficiëntie
gecombineerde immunodeficiëntie door deficiëntie van 'mucosa-associated lymphoid tissue lymphoma translocation gene 1'
Combined immunodeficiency due to MALT1 deficiency
Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency
A rare genetic form of primary immunodeficiency with characteristics of growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections. Caused by homozygous mutation in the MALT1 gene on chromosome 18q21.
Id773488000
StatusPrimitive
Pathological processafwijkend immuunproces
referentieset met complexe 'mapping' naar ICD-10
TargetD81.8
RuleTRUE
AdviceALWAYS D81.8
CorrelationSNOMED CT source code to target map code correlation not specified