1354480001: Autosomal dominant combined variable immunodeficiency due to SEC61 translocon subunit alpha 1 mutation (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Autosomal dominant combined variable immunodeficiency due to SEC61A1 mutation
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant combined variable immunodeficiency due to SEC61A1 mutation
• \Disorder of immune function (disorder)\Hereditary disorder of immune system\Autosomal dominant combined variable immunodeficiency due to SEC61A1 mutation
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Common variable immunodeficiency\Autosomal dominant combined variable immunodeficiency due to SEC61A1 mutation
• \Disorder of body system\Disorder of immune structure\Common variable immunodeficiency\Autosomal dominant combined variable immunodeficiency due to SEC61A1 mutation
• \Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Autosomal dominant combined variable immunodeficiency due to SEC61A1 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
5422227015	Autosomal dominant combined variable immunodeficiency due to SEC61 translocon subunit alpha 1 mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5422228013	Autosomal dominant combined variable immunodeficiency due to SEC61A1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5422229017	Autosomal dominant CVID (combined variable immunodeficiency) due to SEC61A1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5422230010	Autosomal dominant combined variable immunodeficiency due to SEC61A1 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5422231014	Autosomal dominant combined variable immunodeficiency due to SEC61 translocon subunit alpha 1 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5422227015	Autosomal dominant combined variable immunodeficiency due to SEC61 translocon subunit alpha 1 mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5422228013	Autosomal dominant combined variable immunodeficiency due to SEC61A1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5422229017	Autosomal dominant CVID (combined variable immunodeficiency) due to SEC61A1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5422230010	Autosomal dominant combined variable immunodeficiency due to SEC61A1 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5422231014	Autosomal dominant combined variable immunodeficiency due to SEC61 translocon subunit alpha 1 mutation	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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