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1351652007: Autosomal recessive combined immunodeficiency due to COPI coat complex subunit gamma 1 deficiency (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
5408279016 Autosomal recessive combined immunodeficiency due to COPI coat complex subunit gamma 1 deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5408281019 Autosomal recessive combined immunodeficiency due to COPG1 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5414350014 Autosomal recessive combined immunodeficiency due to COPI coat complex subunit gamma 1 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 immunodeficiency due to COPI coat complex subunit gamma 1 deficiency (disorder) Is a Combined immunodeficiency disease true Inferred relationship Some
Autosomal recessive combined immunodeficiency due to COPI coat complex subunit gamma 1 deficiency (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive combined immunodeficiency due to COPI coat complex subunit gamma 1 deficiency (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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