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


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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Predisposition to invasive fungal disease due to CARD9 deficiency est un(e) (attribut) Primary immune deficiency disorder (disorder) true Inferred relationship Some
Predisposition to invasive fungal disease due to CARD9 deficiency est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Predisposition to invasive fungal disease due to CARD9 deficiency Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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