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191009009: Hyperimmunoglobulin E syndrome (disorder)

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
293718014 Hyperimmunoglobulin E syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
574659016 Hyperimmunoglobulin E syndrome en Fully specified name 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

10 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hyperimmunoglobulin E syndrome Is a Combined immunodeficiency disease true Inferred relationship Existential restriction modifier (core metadata concept)
Hyperimmunoglobulin E syndrome Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hyperimmunoglobulin E syndrome Is a Increased immunoglobulin true Inferred relationship Existential restriction modifier (core metadata concept)
Hyperimmunoglobulin E syndrome Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Hyperimmunoglobulin E syndrome Interprets Immunoglobulin E measurement true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hyperimmunoglobulin E syndrome Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept)
Autosomal dominant combined immunodeficiency due to partial interleukin 6 cytokine family signal transducer deficiency (disorder) Is a True Hyperimmunoglobulin E syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency (disorder) Is a True Hyperimmunoglobulin E syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to IL6R deficiency Is a True Hyperimmunoglobulin E syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to complete interleukin 6 cytokine family signal transducer deficiency (disorder) Is a True Hyperimmunoglobulin E syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency Is a True Hyperimmunoglobulin E syndrome Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
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. Is a True Hyperimmunoglobulin E syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Netherton syndrome (disorder) Is a True Hyperimmunoglobulin E syndrome Inferred relationship Existential restriction modifier (core metadata concept)
PGM3-related congenital disorder of glycosylation Is a True Hyperimmunoglobulin E syndrome Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

SAME AS association reference set (foundation metadata concept)

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