1197415001: Susceptibility to infection due to tyrosine kinase 2 deficiency (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\A rare immunodeficiency syndrome characterized by a narrow vulnerability to poorly virulent mycobacteria such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria and defined by severe recurrent infections, either disseminated or localized. The most serious variants develop in early childhood with first infections generally occurring around the age of 3. MSMD can be inherited in an autosomal dominant, autosomal recessive or X-linked manner.\A rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.

\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\A rare immunodeficiency syndrome characterized by a narrow vulnerability to poorly virulent mycobacteria such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria and defined by severe recurrent infections, either disseminated or localized. The most serious variants develop in early childhood with first infections generally occurring around the age of 3. MSMD can be inherited in an autosomal dominant, autosomal recessive or X-linked manner.\A rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5399736013 A rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5399737016 A rare primary immunodeficiency characterised by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4696251016 Autosomal recessive hyper-IgE (immunoglobulin E) syndrome due to TYK2 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4696252011 Susceptibility to infection due to tyrosine kinase 2 deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4696253018 Susceptibility to infection due to TYK2 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4696254012 Susceptibility to infection due to tyrosine kinase 2 deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

7732581000241111 susceptibilité infectieuse due à un déficit en TYK2 (tyrosine kinase 2) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7732591000241113 susceptibilité aux infections par déficit en TYK2 (tyrosine kinase 2) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3395891001000111 Suszeptibilität für Infektionen durch TYK2-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.	Is a	A rare immunodeficiency syndrome characterized by a narrow vulnerability to poorly virulent mycobacteria such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria and defined by severe recurrent infections, either disseminated or localized. The most serious variants develop in early childhood with first infections generally occurring around the age of 3. MSMD can be inherited in an autosomal dominant, autosomal recessive or X-linked manner.	true	Inferred relationship	Some
A rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
A rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	1

Inbound Relationships

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Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5399736013	A rare primary immunodeficiency characterized by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399737016	A rare primary immunodeficiency characterised by increased susceptibility to intracellular bacterial and viral infection, with or without increased serum IgE. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4696251016	Autosomal recessive hyper-IgE (immunoglobulin E) syndrome due to TYK2 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4696252011	Susceptibility to infection due to tyrosine kinase 2 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4696253018	Susceptibility to infection due to TYK2 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4696254012	Susceptibility to infection due to tyrosine kinase 2 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7732581000241111	susceptibilité infectieuse due à un déficit en TYK2 (tyrosine kinase 2)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7732591000241113	susceptibilité aux infections par déficit en TYK2 (tyrosine kinase 2)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3395891001000111	Suszeptibilität für Infektionen durch TYK2-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module