1351324009: Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Procedure related finding\Evaluation finding\Measurement finding\...
• \Finding of substance level (finding)\Finding of protein level (finding)\Finding of immunoglobulin level (finding)\Immunoglobulins outside reference range\Increased immunoglobulin\Hyperimmunoglobulin E syndrome\Autosomal dominant combined immunodeficiency due to ERBIN deficiency
• \Measurement finding outside reference range\Measurement finding above reference range (finding)\Increased immunoglobulin\Hyperimmunoglobulin E syndrome\Autosomal dominant combined immunodeficiency due to ERBIN deficiency
• \Measurement finding outside reference range\Immunoglobulins outside reference range\Increased immunoglobulin\Hyperimmunoglobulin E syndrome\Autosomal dominant combined immunodeficiency due to ERBIN deficiency
• \Disease\Genetic disease\Hyperimmunoglobulin E syndrome\Autosomal dominant combined immunodeficiency due to ERBIN deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant combined immunodeficiency due to ERBIN deficiency
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Hyperimmunoglobulin E syndrome\Autosomal dominant combined immunodeficiency due to ERBIN deficiency

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
5406581012	Autosomal dominant combined immunodeficiency due to ERBIN deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5406582017	Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5406583010	Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5406619011	Autosomal dominant hyperimmunoglobulin E syndrome due to ERBIN deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5406620017	Autosomal dominant hyperimmunoglobulin E syndrome due to ERBB2IP defect	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5406581012	Autosomal dominant combined immunodeficiency due to ERBIN deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5406582017	Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5406583010	Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5406619011	Autosomal dominant hyperimmunoglobulin E syndrome due to ERBIN deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5406620017	Autosomal dominant hyperimmunoglobulin E syndrome due to ERBB2IP defect	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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