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ernstige gecombineerde immunodeficiëntie door deficiëntie van 'deoxyribonucleic acid dependent protein kinase catalytic subunit' (aandoening)
ernstige gecombineerde immunodeficiëntie door deficiëntie van 'deoxyribonucleic acid dependent protein kinase catalytic subunit'
SCID door deficiëntie van katalytische subunit van DNA-afhankelijk proteïnekinase
ernstige gecombineerde immuundeficiëntie door deficiëntie van 'deoxyribonucleic acid dependent protein kinase catalytic subunit'
'severe combined immunodeficiency' door DNA-PKcs-deficiëntie
Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency
Severe combined immunodeficiency due to DNA-PKcs deficiency
An extremely rare type of severe combined immunodeficiency characterized by the classical signs of severe combined immunodeficiency (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes and cell sensitivity to ionizing radiation.
Id716871006
StatusPrimitive
Occurrencecongenitaal
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetD81.1
Term'Severe combined immunodeficiency' [SCID] met lage aantallen T- en B-cellen
SNOMED CT to Orphanet simple map317425
SNOMED CT to ICD-10 extended map
TargetD81.1
RuleTRUE
AdviceALWAYS D81.1
CorrelationSNOMED CT source code to target map code correlation not specified