Autosomal recessive hereditary disorder
Primary immune deficiency disorder
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Predisposition to invasive fungal disease due to caspase recruitment domain family member 9 deficiency (disorder)
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 characterized by increased susceptibility to fungal infections, typically manifesting as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis, and deep dermatophytosis with dermatophytes invading skin, hair, nails, lymph nodes, and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis, and lymphadenopathy.
Id1186719000
StatusPrimitive
Pathological processAbnormal immune process
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
TargetD84.8
RuleTRUE
AdviceALWAYS D84.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified