1351946008: Autosomal recessive combined immunodeficiency due to mannosidase alpha class 2B member 2 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 MAN2B2 mutation
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Autosomal recessive combined immunodeficiency due to MAN2B2 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
5418450019	Autosomal recessive combined immunodeficiency due to MAN2B2 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5418451015	Autosomal recessive combined immunodeficiency due to mannosidase alpha class 2B member 2 mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5418452010	Autosomal recessive combined immunodeficiency due to mannosidase alpha class 2B member 2 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5418453017	Autosomal recessive combined immunodeficiency due to MAN2B2 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5418450019	Autosomal recessive combined immunodeficiency due to MAN2B2 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5418451015	Autosomal recessive combined immunodeficiency due to mannosidase alpha class 2B member 2 mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5418452010	Autosomal recessive combined immunodeficiency due to mannosidase alpha class 2B member 2 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5418453017	Autosomal recessive combined immunodeficiency due to MAN2B2 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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