1351779004: Autosomal dominant combined immunodeficiency due to signal transducer and activator of transcription 5B mutation (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant combined immunodeficiency due to STAT5b mutation
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Autosomal dominant combined immunodeficiency due to STAT5b mutation

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
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

Expanded Value Set

Reference Sets

Description inactivation indicator reference set

GB English

US English

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