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

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\...
• \syndrome familial avec prédisposition aux cancers (trouble)\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
• \trouble de la fonction immunitaire\Hereditary disorder of immune system\Autoimmune lymphoproliferative syndrome\STAT3-related early-onset multisystem autoimmune disease
• \trouble de la fonction immunitaire\troubles d'immunodéficience\Primary immune deficiency disorder (disorder)\Autoimmune lymphoproliferative syndrome\STAT3-related early-onset multisystem autoimmune disease
• \trouble de la fonction immunitaire\Autoimmune disease\STAT3-related early-onset multisystem autoimmune disease
• \trouble de la morphologie hématopoïétique\trouble lymphoprolifératif\Autoimmune lymphoproliferative syndrome\STAT3-related early-onset multisystem autoimmune disease
• \affection d'un système corporel\Disorder of immune structure (disorder)\Autoimmune lymphoproliferative syndrome\STAT3-related early-onset multisystem autoimmune disease
• \affection d'un système corporel\affection du système hématopoïétique\Autoimmune lymphoproliferative syndrome\STAT3-related early-onset multisystem autoimmune disease
• \affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of immune system\Autoimmune lymphoproliferative syndrome\STAT3-related early-onset multisystem autoimmune disease
• \maladie systémique\STAT3-related early-onset multisystem autoimmune disease

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
4696017010	STAT3-related early-onset multisystem autoimmune disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4696018017	Signal transducer and activator of transcription 3-related early-onset multisystem autoimmune disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4696019013	Signal transducer and activator of transcription 3-related early-onset multisystem autoimmune disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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