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
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	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
Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency	Is a	True	Hyperimmunoglobulin E syndrome	Inferred relationship	Some
Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder)	Is a	True	Hyperimmunoglobulin E syndrome	Inferred relationship	Some
Netherton syndrome	Is a	True	Hyperimmunoglobulin E syndrome	Inferred relationship	Some
Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder)	Is a	True	Hyperimmunoglobulin E syndrome	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set