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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
	Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.

Id	716871006
Status	Primitive

Occurrence

Finding site

structuur van lichaamssysteem

Pathological process

afwijkend immuunproces

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	D81.1
Term	'Severe combined immunodeficiency' [SCID] met lage aantallen T- en B-cellen

SNOMED CT to Orphanet simple map

317425

SNOMED CT to ICD-10 extended map

Target	D81.1
Rule	TRUE
Advice	ALWAYS D81.1
Correlation	SNOMED CT source code to target map code correlation not specified