autosomaal recessieve hereditaire aandoening	gecombineerde immunodeficiëntie
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gecombineerde immunodeficiëntie door deficiëntie van 'mucosa-associated lymphoid tissue lymphoma translocation gene 1' (aandoening)
	gecombineerde immuundeficiëntie door MALT1-deficiëntie
	gecombineerde immunodeficiëntie door deficiëntie van 'mucosa-associated lymphoid tissue lymphoma translocation gene 1'
	Combined immunodeficiency due to MALT1 deficiency
	Combined immunodeficiency due to mucosa-associated lymphoid tissue lymphoma translocation gene 1 deficiency
	A rare genetic form of primary immunodeficiency with characteristics of growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections. Caused by homozygous mutation in the MALT1 gene on chromosome 18q21.

Id	773488000
Status	Primitive

Pathological process

afwijkend immuunproces

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	D81.8
Term	Overige gespecificeerde gecombineerde immunodeficiënties

SNOMED CT to Orphanet simple map

397964

SNOMED CT to ICD-10 extended map

Target	D81.8
Rule	TRUE
Advice	ALWAYS D81.8
Correlation	SNOMED CT source code to target map code correlation not specified