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\...

\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)

\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopaenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)

\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 thrombocytopaenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\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 (disorder)
\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 (disorder)
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopaenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\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 (disorder)
\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 (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopaenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\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 (disorder)
\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 (disorder)
\Measurement finding\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopaenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\Measurement finding\Finding of 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 (disorder)
\Measurement finding\Finding of 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 (disorder)

\Haematopoietic system finding\Hemostatic system finding (finding)\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\...

\Congenital thrombocytopaenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)

\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)

\Immune thrombocytopenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)

\Functional finding\Disorder of hemostatic system\Platelet disorder\...

\Thrombocytopenic disorder\Congenital thrombocytopaenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\Thrombocytopenic disorder\Immune thrombocytopenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)

\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\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 (disorder)
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\Disease\Disorder of immune function (disorder)\Immune thrombocytopenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital thrombocytopaenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopaenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\Disease\Disorder of cellular component of blood\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopaenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\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 (disorder)
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\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 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (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

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

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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)	Is a	Immune thrombocytopenia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)	Is a	Hereditary disorder of immune system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)	Is a	Hereditary thrombocytopenic disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)	Is a	Combined immunodeficiency disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)	Is a	Congenital thrombocytopaenia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)	Finding site	Body system structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)	Interprets	Hemostatic function	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)	Interprets	Platelet count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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