1351501003: Immunodeficiency by defective expression of major histocompatibility complex class II due to regulatory factor X associated protein mutation (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare autosomal recessive primary immunodeficiency characterized by absence of HLA class II molecules on the surface of immune cells, leading to severely impaired cellular and humoral immune response to foreign antigens, severe CD4+ T-cell lymphopenia, and hypogammaglobulinemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhea with failure to thrive, and autoimmune disease, and is frequently fatal in childhood.\Immunodeficiency by defective expression of major histocompatibility complex class II due to regulatory factor X associated protein mutation (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\A rare autosomal recessive primary immunodeficiency characterized by absence of HLA class II molecules on the surface of immune cells, leading to severely impaired cellular and humoral immune response to foreign antigens, severe CD4+ T-cell lymphopenia, and hypogammaglobulinemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhea with failure to thrive, and autoimmune disease, and is frequently fatal in childhood.\Immunodeficiency by defective expression of major histocompatibility complex class II due to regulatory factor X associated protein 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
5407564012	Immunodeficiency by defective expression of major histocompatibility complex class II due to regulatory factor X associated protein mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407565013	Major histocompatibility complex class II deficiency due to RFXAP mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407566014	Immunodeficiency by defective expression of major histocompatibility complex class II due to regulatory factor X associated protein mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407567017	MHC (major histocompatibility complex) class II deficiency due to RFXAP mutation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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