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191002000: Immunodeficiency by defective expression of major histocompatibility complex class II (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
293710019 Major histocompatibility complex class II deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5407559013 Immunodeficiency by defective expression of major histocompatibility complex class II (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5407560015 Bare lymphocyte syndrome type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5407561016 MHC (major histocompatibility complex) class II deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5407562011 Bare lymphocyte syndrome type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5407563018 Immunodeficiency by defective expression of major histocompatibility complex class II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5407666017 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5407667014 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


4 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Major histocompatibility complex class II deficiency Is a Severe combined immunodeficiency disease false Inferred relationship Some
Major histocompatibility complex class II deficiency Occurrence Congenital false Inferred relationship Some 2
Major histocompatibility complex class II deficiency Finding site Structure of immune system (body structure) false Inferred relationship Some 1
Major histocompatibility complex class II deficiency Severity Severe false Inferred relationship Some
Major histocompatibility complex class II deficiency Is a Disorder of immune structure (disorder) false Inferred relationship Some
Major histocompatibility complex class II deficiency Has definitional manifestation Immune system finding false Inferred relationship Some
Major histocompatibility complex class II deficiency Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 3
Major histocompatibility complex class II deficiency Is a Combined immunodeficiency disease true Inferred relationship Some
Major histocompatibility complex class II deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Immunodeficiency by defective expression of major histocompatibility complex class II due to regulatory factor X associated protein mutation (disorder) Is a True Major histocompatibility complex class II deficiency Inferred relationship Some
Immunodeficiency by defective expression of major histocompatibility complex class II due to class II major histocompatibility complex transactivator mutation (disorder) Is a True Major histocompatibility complex class II deficiency Inferred relationship Some
Immunodeficiency by defective expression of major histocompatibility complex class II due to regulatory factor X associated ankyrin containing protein mutation (disorder) Is a True Major histocompatibility complex class II deficiency Inferred relationship Some
Immunodeficiency by defective expression of major histocompatibility complex class II due to regulatory factor X5 mutation (disorder) Is a True Major histocompatibility complex class II deficiency Inferred relationship Some

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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