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syndroom van ernstige gecombineerde immunodeficiëntie, microcefalie, groeiachterstand en gevoeligheid voor ioniserende straling (aandoening)
syndroom van ernstige gecombineerde immunodeficiëntie, microcefalie, groeiachterstand en gevoeligheid voor ioniserende straling
cernunnos-XLF-deficiëntie
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome
NHEJ1 (non-homologous end joining factor) syndrome
Severe combined immunodeficiency due to Cernunnos protein deficiency
Cernunnos-XLF deficiency
A rare form of combined immunodeficiency with characteristics of microcephaly, growth retardation and T and B cell lymphopenia. Patients present in childhood with growth retardation, microcephaly, urogenital and bone malformations, dysmorphic features, including ''bird-like'' facial dysmorphism, and features of combined immunodeficiency. Some patients may also present with autoimmune cytopenia. This disease is caused by mutations in the NHEJ1 (or Cernunos) gene (2q35). The resulting defect of Cernunnos/XLF, a core protein of the non-homologous end-joining (NHEJ) pathway, affects the major mechanism of DNA double-strand break repair. Transmission is autosomal recessive.
Id720853005
StatusPrimitive
Pathological processafwijkend immuunproces
referentieset met complexe 'mapping' naar ICD-10
TargetD81.1
RuleTRUE
AdviceALWAYS D81.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified