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ernstige gecombineerde immunodeficiëntie door DCLRE1C-deficiëntie (aandoening)
ernstige gecombineerde immunodeficiëntie door DCLRE1C-deficiëntie
ernstige gecombineerde immuundeficiëntie van Athabaskisch type
'severe combined immunodeficiency' door DCLRE1C-deficiëntie
ernstige gecombineerde immunodeficiëntie door artemisdeficiëntie
SCID door DCLRE1C-deficiëntie
Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency Athabascan type
Severe combined immunodeficiency due to artemis deficiency
Severe combined immunodeficiency due to deoxyribonucleic acid cross-link repair protein 1c deficiency
A type of severe combined immunodeficiency disease characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation. Prevalence is unknown. Results from null mutations in the DCLRE1C gene (10p13) that lead to a defect in the V(D)J recombination and thus to an early arrest of both B and T cell maturation. Transmission is autosomal recessive.
Id715982006
StatusPrimitive
Pathological processafwijkend immuunproces
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetD81.1
RuleTRUE
AdviceALWAYS D81.1
CorrelationSNOMED CT source code to target map code correlation not specified