1351327002: Autosomal recessive combined immunodeficiency due to interleukin 6 receptor deficiency (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\Autosomal recessive combined immunodeficiency due to interleukin 6 receptor deficiency (disorder)
• \Measurement finding outside reference range\Measurement finding above reference range\Immunoglobulin above reference range (finding)\Hyperimmunoglobulin E syndrome\Autosomal recessive combined immunodeficiency due to interleukin 6 receptor deficiency (disorder)
• \Measurement finding outside reference range\Immunoglobulins outside reference range\Immunoglobulin above reference range (finding)\Hyperimmunoglobulin E syndrome\Autosomal recessive combined immunodeficiency due to interleukin 6 receptor deficiency (disorder)
• \Disease\Genetic disease\Hyperimmunoglobulin E syndrome\Autosomal recessive combined immunodeficiency due to interleukin 6 receptor deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive combined immunodeficiency due to interleukin 6 receptor deficiency (disorder)
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Hyperimmunoglobulin E syndrome\Autosomal recessive combined immunodeficiency due to interleukin 6 receptor deficiency (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
5406600018	Autosomal recessive combined immunodeficiency due to interleukin 6 receptor deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5406601019	Autosomal recessive combined immunodeficiency due to IL6 receptor protein deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5406602014	Autosomal recessive combined immunodeficiency due to interleukin 6 receptor deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5406603016	Autosomal recessive combined immunodeficiency due to IL6R deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5406622013	Autosomal recessive hyperimmunoglobulin E syndrome due to IL6R deficiency	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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