1351354004: Immunodeficiency by defective expression of major histocompatibility complex class I due to transporter 1, ATP binding cassette subfamily B member 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\Major histocompatibility complex class I deficiency due to TAP1 mutation
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Major histocompatibility complex class I deficiency\Major histocompatibility complex class I deficiency due to TAP1 mutation

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
5406799019	Major histocompatibility complex class I deficiency due to TAP1 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5406800015	Immunodeficiency by defective expression of human leukocyte antigen class 1 due to transporter 1, ATP binding cassette subfamily B member mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5406801016	MHC (major histocompatibility complex) class I deficiency due to TAP1 mutation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5406802011	Immunodeficiency by defective expression of major histocompatibility complex class I due to transporter 1, ATP binding cassette subfamily B member mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5406811011	Immunodeficiency by defective expression of human leucocyte antigen class 1 due to transporter 1, ATP binding cassette subfamily B member mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407392018	Immunodeficiency by defective expression of major histocompatibility complex class I due to transporter 1, ATP binding cassette subfamily B member 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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