1351778007: Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...
• \Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Procedure related finding\Evaluation finding\...
• \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\Congenital thrombocytopenia (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \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\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \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\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\...
• \Congenital thrombocytopenia (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Immune thrombocytopenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Functional finding\Disorder of hemostatic system\Platelet disorder\...
• \Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Thrombocytopenic disorder\Immune thrombocytopenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Disease\Disorder of immune function (disorder)\Immune thrombocytopenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital thrombocytopenia (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect

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
5415020019	Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5415021015	Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5415022010	Autosomal recessive combined immunodeficiency due to ARPC1B mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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