autosomaal recessieve hereditaire aandoening	primaire immunodeficiëntie
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predispositie voor invasieve schimmelinfectie door deficiëntie van 'caspase recruitment domain family member 9' (aandoening)
	predispositie voor invasieve schimmelinfectie door CARD9-deficiëntie
	predispositie voor invasieve schimmelinfectie door deficiëntie van 'caspase recruitment domain family member 9' syndroom van invasieve candidiase en diepe dermatomycose syndroom van invasieve candidose en diepe dermatofytose aanleg voor invasieve schimmelinfectie door CARD9-deficiëntie
	Predisposition to invasive fungal disease due to CARD9 deficiency
	Invasive candidiasis, deep dermatophytosis syndrome Predisposition to invasive fungal disease due to caspase recruitment domain family member 9 deficiency
	A rare genetic primary immunodeficiency with characteristics of increased susceptibility to fungal infections that typically manifest as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis and deep dermatophytosis. Dermatophytes invade skin, hair, nails, lymph nodes and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis and lymphadenopathy.

Id	1186719000
Status	Primitive

Pathological process

afwijkend immuunproces

SNOMED CT to Orphanet simple map

457088

SNOMED CT to ICD-10 extended map

Target	D84.8
Rule	TRUE
Advice	ALWAYS D84.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified