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1336113009: Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jun 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5363446013 Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5363447016 Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5363448014 CARD11-associated atopy with dominant interference of NF-kB signaling syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5363449018 CADINS disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5363450018 A rare hyper-IgE syndrome characterised by early-onset moderate to severe atopic dermatitis and recurrent infections of variable severity including molluscum contagiosum, pneumonia, abscesses, bacteraemia, or eczema herpeticum, among others. Other reported manifestations include asthma, food allergies, colitis, chronic diarrhoea, lymphoma, and seizures, as well as dysmorphic facial features, such as prominent forehead, broad nose, and poor dentition. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5363451019 A rare hyper-IgE syndrome characterized by early-onset moderate to severe atopic dermatitis and recurrent infections of variable severity including molluscum contagiosum, pneumonia, abscesses, bacteremia, or eczema herpeticum, among others. Other reported manifestations include asthma, food allergies, colitis, chronic diarrhea, lymphoma, and seizures, as well as dysmorphic facial features, such as prominent forehead, broad nose, and poor dentition. 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
Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder) Is a Immunoglobulin above reference range (finding) true Inferred relationship Some
Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder) Is a Atopic dermatitis true Inferred relationship Some
Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder) Is a Combined immunodeficiency disease true Inferred relationship Some
Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder) Is a Genetic disease true Inferred relationship Some
Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder) Associated with Atopy true Inferred relationship Some 4
Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 3
Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder) Interprets Immunoglobulin E measurement true Inferred relationship Some 2
Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder) Has interpretation Above reference range true Inferred relationship Some 2
Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder) Finding site Skin structure true Inferred relationship Some 1
Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder) Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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