1351844007: Early-onset autoimmunity, autoinflammation, immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Early-onset autoimmunity, autoinflammation, immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency (disorder)
• \Disorder of immune function (disorder)\Autoinflammatory disease (disorder)\Early-onset autoimmunity, autoinflammation, immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Early-onset autoimmunity, autoinflammation, immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency (disorder)
• \Disorder of immune function (disorder)\Autoimmune disease\Early-onset autoimmunity, autoinflammation, immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency (disorder)
• \Disorder of body system\Disorder of immune structure (disorder)\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Early-onset autoimmunity, autoinflammation, immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency (disorder)
• \Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Early-onset autoimmunity, autoinflammation, immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency (disorder)
• \Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Early-onset autoimmunity, autoinflammation, immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency (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
5415444011	SOCS1-related autoinflammatory syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415445012	Early-onset autoimmunity, autoinflammation, immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5415446013	Early-onset autoimmunity, autoinflammation, immunodeficiency syndrome due to SOCS1 haploinsufficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5415447016	Early-onset autoimmunity, autoinflammation, immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5415452014	A rare immunodeficiency syndrome with autoimmunity characterized by early-onset autoimmune and autoinflammatory manifestations due to SOCS1 haploinsufficiency. Patients present with variable phenotypes including hyper IgE-like syndrome with eczema and purulent infections, eosinophilic allergic alveolitis, common variable immunodeficiency-like phenotype with hypogammaglobulinemia, chronic autoimmune cytopenia, T-cell lymphopenia, granulomatous lymphocytic interstitial lung disease, systemic lupus erythematosus and malignancy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5415453016	A rare immunodeficiency syndrome with autoimmunity characterised by early-onset autoimmune and autoinflammatory manifestations due to SOCS1 haploinsufficiency. Patients present with variable phenotypes including hyper IgE-like syndrome with eczema and purulent infections, eosinophilic allergic alveolitis, common variable immunodeficiency-like phenotype with hypogammaglobulinaemia, chronic autoimmune cytopenia, T-cell lymphopenia, granulomatous lymphocytic interstitial lung disease, systemic lupus erythematosus and malignancy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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