1186719000: Predisposition to invasive fungal disease due to caspase recruitment domain family member 9 deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Predisposition to invasive fungal disease due to CARD9 deficiency
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Predisposition to invasive fungal disease due to CARD9 deficiency

Status: current, Primitive. Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4667430016	Predisposition to invasive fungal disease due to CARD9 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4667432012	Invasive candidiasis, deep dermatophytosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4667433019	Predisposition to invasive fungal disease due to caspase recruitment domain family member 9 deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4667434013	Predisposition to invasive fungal disease due to caspase recruitment domain family member 9 deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
4667431017	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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