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

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare, genetic primary immunodeficiency characterised 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.
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\A rare, genetic primary immunodeficiency characterised 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.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4667432012	Invasive candidiasis, deep dermatophytosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4667433019	Predisposition to invasive fungal disease due to caspase recruitment domain family member 9 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4667434013	Predisposition to invasive fungal disease due to caspase recruitment domain family member 9 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399520013	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399521012	A rare, genetic primary immunodeficiency characterised 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4667430016	Predisposition to invasive fungal disease due to CARD9 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4667432012	Invasive candidiasis, deep dermatophytosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4667433019	Predisposition to invasive fungal disease due to caspase recruitment domain family member 9 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4667434013	Predisposition to invasive fungal disease due to caspase recruitment domain family member 9 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399520013	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399521012	A rare, genetic primary immunodeficiency characterised 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3387421001000116	Prädisposition für invasive Pilzinfektionen durch CARD9-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6427221000241117	syndrome de candidiase invasive et dermatophytie profonde	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6427231000241115	prédisposition aux infections fongiques invasives par déficit en CARD9 (caspase recruitment domain family member 9)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6427241000241113	syndrome de candidose invasive et dermatophytie profonde	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6427221000241117	syndrome de candidiase invasive et dermatophytie profonde	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6427231000241115	prédisposition aux infections fongiques invasives par déficit en CARD9 (caspase recruitment domain family member 9)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6427241000241113	syndrome de candidose invasive et dermatophytie profonde	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3387421001000116	Prädisposition für invasive Pilzinfektionen durch CARD9-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start