783142006: Pancytopenia due to IKAROS family zinc finger 1 mutations (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...
• \Anemia\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \White blood cell disorder\Leukopenia\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Procedure related finding\Evaluation finding\...
• \Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Blood leukocyte number below reference range\Leukopenia\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Leukopenia\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Blood leukocyte number below reference range\Leukopenia\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Measurement finding\White blood cell number - finding\White blood cell count outside reference range\Blood leukocyte number below reference range\Leukopenia\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Functional finding\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Leukopenia\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Disease\Disorder of immune function (disorder)\Immune thrombocytopenia\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Leukopenia\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5408477016	A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5408478014	A rare syndrome with combined immunodeficiency characterised by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3757816012	Pancytopenia due to IKZF1 mutations	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3757817015	Pancytopenia due to IKAROS family zinc finger 1 mutations (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3757818013	Combined immunodeficiency due to IKAROS deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3757819017	Pancytopenia due to IKAROS family zinc finger 1 mutations	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6497051000241111	pancytopénie due à des mutations du gène IKAROS à doigts de zinc 1	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6497061000241114	pancytopénie due à des mutations du gène IKFZ1 (IKAROS family zinc finger 1)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3420211001000114	Panzytopenie durch IKZF1-Genmutationen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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Reference Sets

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

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