1197362009: Signal transducer and activator of transcription 3-related early-onset multisystem autoimmune disease (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary neoplastic syndrome\Autoimmune lymphoproliferative syndrome\STAT3-related early-onset multisystem autoimmune disease
• \Hereditary disorder by system\Hereditary disorder of immune system\Autoimmune lymphoproliferative syndrome\STAT3-related early-onset multisystem autoimmune disease
• \Autosomal hereditary disorder\Autoimmune lymphoproliferative syndrome\STAT3-related early-onset multisystem autoimmune disease
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\STAT3-related early-onset multisystem autoimmune disease
• \Disorder of immune function\Hereditary disorder of immune system\Autoimmune lymphoproliferative syndrome\STAT3-related early-onset multisystem autoimmune disease
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Autoimmune lymphoproliferative syndrome\STAT3-related early-onset multisystem autoimmune disease
• \Disorder of immune function\Autoimmune disease\STAT3-related early-onset multisystem autoimmune disease
• \Disorder of haematopoietic morphology\Lymphoproliferative disorder\Autoimmune lymphoproliferative syndrome\STAT3-related early-onset multisystem autoimmune disease
• \Disorder of body system\Disorder of immune structure\Autoimmune lymphoproliferative syndrome\STAT3-related early-onset multisystem autoimmune disease
• \Disorder of body system\Disorder of haematopoietic structure\Autoimmune lymphoproliferative syndrome\STAT3-related early-onset multisystem autoimmune disease
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Autoimmune lymphoproliferative syndrome\STAT3-related early-onset multisystem autoimmune disease
• \Systemic disease\STAT3-related early-onset multisystem autoimmune disease

Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4696017010	STAT3-related early-onset multisystem autoimmune disease	en	Synonym	Active	Case sensitive	SNOMED CT core
4696018017	Signal transducer and activator of transcription 3-related early-onset multisystem autoimmune disease (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4696019013	Signal transducer and activator of transcription 3-related early-onset multisystem autoimmune disease	en	Synonym	Active	Case insensitive	SNOMED CT core
4696020019	A rare genetic lymphoproliferative syndrome characterized by early onset recurrent infections, lymphadenopathy with hepatosplenomegaly and variable autoimmune disorders, including hemolytic anemia, thrombocytopenia, neutropenia, enteropathy, type I diabetes, scleroderma, arthritis, atopic dermatitis, and inflammatory lung disease. Patients commonly have failure to thrive. Variable immunologic findings include decreased regulatory T-cells, hypogammaglobulinemia, and reduction in memory B cells.	en	Definition	Active	Case sensitive	SNOMED CT core
4696021015	A rare genetic lymphoproliferative syndrome characterised by early onset recurrent infections, lymphadenopathy with hepatosplenomegaly and variable autoimmune disorders, including haemolytic anaemia, thrombocytopenia, neutropenia, enteropathy, type I diabetes, scleroderma, arthritis, atopic dermatitis, and inflammatory lung disease. Patients commonly have failure to thrive. Variable immunologic findings include decreased regulatory T-cells, hypogammaglobulinaemia, and reduction in memory B cells.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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