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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\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.
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\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.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\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.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\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.
• \Procedure related finding\Evaluation finding\Measurement finding\...
• \Finding of substance level (finding)\Protein level - finding\Immunoglobulin level - finding\Immunoglobulins outside reference range\Immunoglobulin above reference range (finding)\Hyperimmunoglobulin E syndrome\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.
• \Measurement finding outside reference range\Measurement finding above reference range\Immunoglobulin above reference range (finding)\Hyperimmunoglobulin E syndrome\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.
• \Measurement finding outside reference range\Immunoglobulins outside reference range\Immunoglobulin above reference range (finding)\Hyperimmunoglobulin E syndrome\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.
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\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.
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\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.
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\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.
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\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.
• \Disease\Genetic disease\Hyperimmunoglobulin E syndrome\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.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\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.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\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.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\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.
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\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.
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Hyperimmunoglobulin E syndrome\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.
• \Disease\Disorder of body system\Inflammation of specific body systems\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\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.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\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.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\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.
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\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.
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\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.
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\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.
• \Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\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.
• \Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\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.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\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.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Eczema\Atopic dermatitis\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.

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
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
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

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