1351351007: Immunodeficiency by defective expression of major histocompatibility complex class I due to beta-2-microglobulin mutation (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Major histocompatibility complex class I deficiency\Immunodeficiency by defective expression of major histocompatibility complex class I due to beta-2-microglobulin mutation (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Major histocompatibility complex class I deficiency\Immunodeficiency by defective expression of major histocompatibility complex class I due to beta-2-microglobulin mutation (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
5406787014	Immunodeficiency by defective expression of human leukocyte antigen class 1 due to beta-2-microglobulin mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5406788016	Immunodeficiency by defective expression of major histocompatibility complex class I due to beta-2-microglobulin mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5406789012	MHC (major histocompatibility complex) class I deficiency due to B2M mutation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5406790015	Major histocompatibility complex class I deficiency due to B2M mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5406810012	Immunodeficiency by defective expression of human leucocyte antigen class 1 due to beta-2-microglobulin mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5407390014	Immunodeficiency by defective expression of major histocompatibility complex class I due to beta-2-microglobulin 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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