autosomaal recessieve ernstige gecombineerde immunodeficiëntie

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ernstige gecombineerde immunodeficiëntie door deficiëntie van 'caspase recruitment domain-containing protein 11' (aandoening)
	ernstige gecombineerde immunodeficiëntie door deficiëntie van 'caspase recruitment domain-containing protein 11'
	'severe combined immunodeficiency' door CARD11-deficiëntie ernstige gecombineerde immuundeficiëntie door CARD11-deficiëntie SCID door CARD11-deficiëntie
	Severe combined immunodeficiency due to CARD11 deficiency
	Severe combined immunodeficiency due to CARD11 (caspase recruitment domain family member 11) deficiency Severe combined immunodeficiency due to caspase recruitment domain family member 11 deficiency
	A rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections. Caused by homozygous mutation in the CARD11 gene on chromosome 7p22.

Id	771517009
Status	Primitive

Finding site	structuur van lichaamssysteem
Occurrence	congenitaal

Pathological process

afwijkend immuunproces

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	D81.2
Term	'Severe combined immunodeficiency' [SCID] met lage of normale aantallen B-cellen

SNOMED CT to Orphanet simple map

357237

SNOMED CT to ICD-10 extended map

Target	D81.2
Rule	TRUE
Advice	ALWAYS D81.2
Correlation	SNOMED CT source code to target map code correlation not specified