1363572000: Combined immunodeficiency due to forkhead box N1 haploinsufficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\A rare non-severe combined immunodeficiency characterized by decreased numbers of T cells (particularly CD8+ T cells) and increased susceptibility to recurrent infections with variable severity (predominantly respiratory viral infections). Additional features may include thymic aplasia/hypoplasia, skin abnormalities including atopic dermatitis, hair loss and nail dystrophy. Symptoms may vary among patients (some patients may develop serious infections) and may ameliorate by age.
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\A rare non-severe combined immunodeficiency characterized by decreased numbers of T cells (particularly CD8+ T cells) and increased susceptibility to recurrent infections with variable severity (predominantly respiratory viral infections). Additional features may include thymic aplasia/hypoplasia, skin abnormalities including atopic dermatitis, hair loss and nail dystrophy. Symptoms may vary among patients (some patients may develop serious infections) and may ameliorate by age.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Apr 2025. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5449744013	A rare non-severe combined immunodeficiency characterized by decreased numbers of T cells (particularly CD8+ T cells) and increased susceptibility to recurrent infections with variable severity (predominantly respiratory viral infections). Additional features may include thymic aplasia/hypoplasia, skin abnormalities including atopic dermatitis, hair loss and nail dystrophy. Symptoms may vary among patients (some patients may develop serious infections) and may ameliorate by age.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5449745014	A rare non-severe combined immunodeficiency characterised by decreased numbers of T cells (particularly CD8+ T cells) and increased susceptibility to recurrent infections with variable severity (predominantly respiratory viral infections). Additional features may include thymic aplasia/hypoplasia, skin abnormalities including atopic dermatitis, hair loss and nail dystrophy. Symptoms may vary among patients (some patients may develop serious infections) and may ameliorate by age.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5449741017	Combined immunodeficiency due to forkhead box N1 haploinsufficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5449742012	Combined immunodeficiency due to forkhead box N1 haploinsufficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5449743019	Combined immunodeficiency due to FOXN1 haploinsufficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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