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1354420003: Autosomal dominant combined variable immunodeficiency due to interferon regulatory factor 2 binding protein 2 mutation (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5421878019 Autosomal dominant combined variable immunodeficiency due to interferon regulatory factor 2 binding protein 2 mutation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5421879010 Autosomal dominant combined variable immunodeficiency due to IRF2BP2 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5421880013 Autosomal dominant CVID (combined variable immunodeficiency) due to IRF2BP2 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5421881012 Autosomal dominant combined variable immunodeficiency due to interferon regulatory factor 2 binding protein 2 mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5421882017 Autosomal dominant combined variable immunodeficiency due to IRF2BP2 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant combined variable immunodeficiency due to interferon regulatory factor 2 binding protein 2 mutation (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Autosomal dominant combined variable immunodeficiency due to interferon regulatory factor 2 binding protein 2 mutation (disorder) Is a Common variable immunodeficiency true Inferred relationship Some
Autosomal dominant combined variable immunodeficiency due to interferon regulatory factor 2 binding protein 2 mutation (disorder) Is a Hereditary disorder of immune system true Inferred relationship Some
Autosomal dominant combined variable immunodeficiency due to interferon regulatory factor 2 binding protein 2 mutation (disorder) Finding site Structure of immune system (body structure) true Inferred relationship Some 1
Autosomal dominant combined variable immunodeficiency due to interferon regulatory factor 2 binding protein 2 mutation (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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