71436005: Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Temperature-associated finding\Body temperature finding\Abnormal body temperature\Body temperature above reference range (finding)\Febrile disorder (disorder)\Hereditary periodic fever (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\...

\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)

\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\White blood cell disorder\Non-malignant white cell disorder\Chemotactic disorder\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)

\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (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\Hereditary thrombocytopenic disorder (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (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\Periodic fever, immunodeficiency, thrombocytopenia syndrome (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)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (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\Periodic fever, immunodeficiency, thrombocytopenia syndrome (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)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (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\Periodic fever, immunodeficiency, thrombocytopenia syndrome (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)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Measurement finding\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Periodic fever, immunodeficiency, thrombocytopenia syndrome (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\...

\Hereditary thrombocytopenic disorder (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)

\Immune thrombocytopenia\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)

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

\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Thrombocytopenic disorder\Immune thrombocytopenia\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)

\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)

\Vital signs finding (finding)\Body temperature finding\Abnormal body temperature\Body temperature above reference range (finding)\Febrile disorder (disorder)\Hereditary periodic fever (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)

\Disease\Genetic disease\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (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)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Febrile disorder (disorder)\Hereditary periodic fever (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Disorder of immune function (disorder)\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Phagocytic cell defect\Phagocytic cell dysfunction\Defective phagocytic cell chemotaxis\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Non-malignant white cell disorder\Chemotactic disorder\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Disorder of immune function (disorder)\Immune thrombocytopenia\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Disorder of cellular component of blood\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Disorder of cellular component of blood\White blood cell disorder\Non-malignant white cell disorder\Chemotactic disorder\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Disorder of cellular component of blood\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Disorder of body system\Disorder of immune structure\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Disorder of body system\Disorder of immune structure\Defective phagocytic cell chemotaxis\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (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)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Inflammatory disorder (disorder)\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Hereditary periodic fever (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)
\Disease\Recurrent disease\Hereditary periodic fever (disorder)\Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Is a	Chemotactic disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Is a	Defective phagocytic cell chemotaxis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Finding site	Leucocyte	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Associated morphology	White blood cell abnormality (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Has definitional manifestation	White blood cell finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Is a	Immune thrombocytopenia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Is a	Hereditary periodic fever (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Is a	Hereditary white blood cell disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Is a	Hereditary thrombocytopenic disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Clinical course	Recurrent (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Interprets	Body temperature (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Interprets	Hemostatic function	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Interprets	Platelet count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
118674018	Lazy leukocyte syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
501881017	Lazy leucocyte syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5306871016	Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5306872011	Periodic fever, immunodeficiency, thrombocytopenia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
118674018	Lazy leukocyte syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
118674018	Lazy leukocyte syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
501881017	Lazy leucocyte syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
501881017	Lazy leucocyte syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
811602018	Lazy leukocyte syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
811602018	Lazy leukocyte syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5306871016	Periodic fever, immunodeficiency, thrombocytopenia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5306872011	Periodic fever, immunodeficiency, thrombocytopenia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4623711000241118	syndrome des leucocytes paresseux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4623711000241118	syndrome des leucocytes paresseux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module