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1351779004: Autosomal dominant combined immunodeficiency due to signal transducer and activator of transcription 5B 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
5415025012 Autosomal dominant combined immunodeficiency due to STAT5b mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5415026013 Autosomal dominant combined immunodeficiency due to signal transducer and activator of transcription 5B mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5415027016 Autosomal dominant combined immunodeficiency due to STAT5b deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5415028014 Autosomal dominant combined immunodeficiency due to signal transducer and activator of transcription 5B mutation (disorder) en Fully specified name 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 immunodeficiency due to STAT5b mutation Is a Combined immunodeficiency disease true Inferred relationship Some
Autosomal dominant combined immunodeficiency due to STAT5b mutation Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1
Autosomal dominant combined immunodeficiency due to STAT5b mutation Is a Autosomal dominant hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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