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1351960005: Autosomal recessive common variable immunodeficiency due to membrane spanning 4-domains A1 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
5418521012 Autosomal recessive common variable immunodeficiency due to membrane spanning 4-domains A1 mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5418522017 Autosomal recessive common variable immunodeficiency due to CD20 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5418523010 Autosomal recessive common variable immunodeficiency due to CD20 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5418524016 Autosomal recessive common variable immunodeficiency due to membrane spanning 4-domains A1 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5418525015 Autosomal recessive common variable immunodeficiency due to MS4A1 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5418532012 Autosomal recessive CVID (common variable immunodeficiency) due to CD20 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 common variable immunodeficiency due to membrane spanning 4-domains A1 mutation (disorder) Is a Common variable immunodeficiency true Inferred relationship Some
Autosomal recessive common variable immunodeficiency due to membrane spanning 4-domains A1 mutation (disorder) Is a Hereditary disorder of immune system true Inferred relationship Some
Autosomal recessive common variable immunodeficiency due to membrane spanning 4-domains A1 mutation (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive common variable immunodeficiency due to membrane spanning 4-domains A1 mutation (disorder) Finding site Structure of immune system (body structure) true Inferred relationship Some 1
Autosomal recessive common variable immunodeficiency due to membrane spanning 4-domains A1 mutation (disorder) 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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