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1354483004: Autosomal recessive combined variable immunodeficiency due to phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma 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
5422238015 Autosomal recessive CVID (combined variable immunodeficiency) due to PIK3CG deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5422239011 Autosomal recessive combined variable immunodeficiency due to PIK3CG mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5422240013 Autosomal recessive combined variable immunodeficiency due to phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma mutation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5422241012 Autosomal recessive combined variable immunodeficiency due to phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma mutation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5422242017 Autosomal recessive combined variable immunodeficiency due to PIK3CG deficiency 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 recessive combined variable immunodeficiency due to PIK3CG mutation Is a Common variable immunodeficiency true Inferred relationship Some
Autosomal recessive combined variable immunodeficiency due to PIK3CG mutation Is a Hereditary disorder of immune system true Inferred relationship Some
Autosomal recessive combined variable immunodeficiency due to PIK3CG mutation Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive combined variable immunodeficiency due to PIK3CG mutation Finding site Structure of immune system (body structure) true Inferred relationship Some 1
Autosomal recessive combined variable immunodeficiency due to PIK3CG mutation Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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