1351800009: Autosomal recessive combined immunodeficiency due to component of inhibitor of nuclear factor kappa B kinase complex mutation (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive combined immunodeficiency due to CHUK mutation
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Autosomal recessive combined immunodeficiency due to CHUK mutation

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5415148017	Autosomal recessive combined immunodeficiency due to component of inhibitor of nuclear factor kappa B kinase complex mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5415149013	Autosomal recessive combined immunodeficiency due to CHUK mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5415150013	Autosomal recessive combined immunodeficiency due to IKK-alpha deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5415151012	Autosomal recessive combined immunodeficiency due to component of inhibitor of nuclear factor kappa B kinase complex mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Description inactivation indicator reference set

GB English

US English

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