191009009: Hyperimmunoglobulin E syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\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

\Measurement finding outside reference range\Measurement finding above reference range\Immunoglobulin above reference range (finding)\Hyperimmunoglobulin E syndrome
\Measurement finding outside reference range\Immunoglobulins outside reference range\Immunoglobulin above reference range (finding)\Hyperimmunoglobulin E syndrome

\Disease\Genetic disease\Hyperimmunoglobulin E syndrome
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Hyperimmunoglobulin E syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

293718014 Hyperimmunoglobulin E syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2727858013 Hyperimmunoglobulin E syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5406579010 HIES - hyperimmunoglobulin E syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5406580013 Hyper-IgE syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperimmunoglobulin E syndrome	Is a	Combined immunodeficiency disease	true	Inferred relationship	Some
Hyperimmunoglobulin E syndrome	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	1
Hyperimmunoglobulin E syndrome	Is a	Immunoglobulin above reference range (finding)	true	Inferred relationship	Some
Hyperimmunoglobulin E syndrome	Is a	Genetic disease	true	Inferred relationship	Some
Hyperimmunoglobulin E syndrome	Interprets	Immunoglobulin E measurement	true	Inferred relationship	Some	2
Hyperimmunoglobulin E syndrome	Has interpretation	Above reference range	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal dominant combined immunodeficiency due to ERBIN deficiency	Is a	True	Hyperimmunoglobulin E syndrome	Inferred relationship	Some
Autosomal dominant combined immunodeficiency due to partial interleukin 6 cytokine family signal transducer deficiency (disorder)	Is a	True	Hyperimmunoglobulin E syndrome	Inferred relationship	Some
A very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.	Is a	True	Hyperimmunoglobulin E syndrome	Inferred relationship	Some
Autosomal recessive combined immunodeficiency due to interleukin 6 receptor deficiency (disorder)	Is a	True	Hyperimmunoglobulin E syndrome	Inferred relationship	Some
Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency	Is a	True	Hyperimmunoglobulin E syndrome	Inferred relationship	Some
Autosomal recessive combined immunodeficiency due to partial interleukin 6 cytokine family signal transducer deficiency (disorder)	Is a	True	Hyperimmunoglobulin E syndrome	Inferred relationship	Some
A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.	Is a	True	Hyperimmunoglobulin E syndrome	Inferred relationship	Some
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.	Is a	True	Hyperimmunoglobulin E syndrome	Inferred relationship	Some
Netherton syndrome	Is a	True	Hyperimmunoglobulin E syndrome	Inferred relationship	Some
A rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.	Is a	True	Hyperimmunoglobulin E syndrome	Inferred relationship	Some

Reference Sets

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