1351503000: Immunodeficiency by defective expression of major histocompatibility complex class II due to regulatory factor X associated ankyrin containing 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 characterised 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 hypogammaglobulinaemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhoea 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 ankyrin containing protein mutation (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\A rare autosomal recessive primary immunodeficiency characterised 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 hypogammaglobulinaemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhoea 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 ankyrin containing 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
5407572014	Immunodeficiency by defective expression of major histocompatibility complex class II due to regulatory factor X associated ankyrin containing protein mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407573016	Immunodeficiency by defective expression of major histocompatibility complex class II due to regulatory factor X associated ankyrin containing protein mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407574010	Major histocompatibility complex class II deficiency due to RFXANK mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407575011	MHC (major histocompatibility complex) class II deficiency due to RFXANK mutation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5407572014	Immunodeficiency by defective expression of major histocompatibility complex class II due to regulatory factor X associated ankyrin containing protein mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407573016	Immunodeficiency by defective expression of major histocompatibility complex class II due to regulatory factor X associated ankyrin containing protein mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407574010	Major histocompatibility complex class II deficiency due to RFXANK mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5407575011	MHC (major histocompatibility complex) class II deficiency due to RFXANK mutation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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