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gecombineerde immunodeficiëntie door deficiëntie van serine/threonine kinase 4 (aandoening)
gecombineerde immunodeficiëntie door STK4-deficiëntie
gecombineerde immunodeficiëntie door deficiëntie van serine/threonine kinase 4
Combined immunodeficiency due to STK4 deficiency
Combined immunodeficiency due to serine/threonine kinase 4 deficiency
Combined immunodeficiency due to STK4 (serine/threonine kinase 4) deficiency
A rare genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, tricuspid and pulmonary valve insufficiency). Caused by homozygous mutation in the STK4 gene on chromosome 20q13.
Id771479000
StatusPrimitive
Pathological processafwijkend immuunproces
referentieset met complexe 'mapping' naar ICD-10
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