398250003: Familial hemophagocytic lymphohistiocytosis (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)\Hereditary white blood cell disorder (disorder)\Familial hemophagocytic lymphohistiocytosis (disorder)

\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Familial hemophagocytic lymphohistiocytosis (disorder)
\White blood cell disorder\Qualitative abnormality of granulocyte\Combined phagocytic defect\Hemolytic erythrophagocytic syndrome\Haemophagocytic lymphohistiocytosis\Familial hemophagocytic lymphohistiocytosis (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Familial hemophagocytic lymphohistiocytosis (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Familial hemophagocytic lymphohistiocytosis (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial hemophagocytic lymphohistiocytosis (disorder)
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Familial hemophagocytic lymphohistiocytosis (disorder)
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Phagocytic cell defect\Phagocytic cell dysfunction\Combined phagocytic defect\Hemolytic erythrophagocytic syndrome\Haemophagocytic lymphohistiocytosis\Familial hemophagocytic lymphohistiocytosis (disorder)
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Familial hemophagocytic lymphohistiocytosis (disorder)
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\Combined phagocytic defect\Hemolytic erythrophagocytic syndrome\Haemophagocytic lymphohistiocytosis\Familial hemophagocytic lymphohistiocytosis (disorder)
\Disease\Disorder of hematopoietic cell proliferation (disorder)\Histiocytic syndrome\Hemolytic erythrophagocytic syndrome\Haemophagocytic lymphohistiocytosis\Familial hemophagocytic lymphohistiocytosis (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Familial hemophagocytic lymphohistiocytosis (disorder)
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Familial hemophagocytic lymphohistiocytosis (disorder)
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\Combined phagocytic defect\Hemolytic erythrophagocytic syndrome\Haemophagocytic lymphohistiocytosis\Familial hemophagocytic lymphohistiocytosis (disorder)
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Combined phagocytic defect\Hemolytic erythrophagocytic syndrome\Haemophagocytic lymphohistiocytosis\Familial hemophagocytic lymphohistiocytosis (disorder)
\Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Haemophagocytic lymphohistiocytosis\Familial hemophagocytic lymphohistiocytosis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Familial hemophagocytic lymphohistiocytosis (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Familial hemophagocytic lymphohistiocytosis (disorder)
\Disease\Familial disease\Familial hemophagocytic lymphohistiocytosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial hemophagocytic lymphohistiocytosis (disorder)	Is a	Atypical lymphoproliferative disorder	false	Inferred relationship	Some
Familial hemophagocytic lymphohistiocytosis (disorder)	Is a	hemofagocytiskt syndrom	false	Inferred relationship	Some
Familial hemophagocytic lymphohistiocytosis (disorder)	Is a	Hemolytic erythrophagocytic syndrome	false	Inferred relationship	Some
Familial hemophagocytic lymphohistiocytosis (disorder)	Associated morphology	Immunoproliferative morphology	false	Inferred relationship	Some	3
Familial hemophagocytic lymphohistiocytosis (disorder)	Finding site	Leukocyte	false	Inferred relationship	Some
Familial hemophagocytic lymphohistiocytosis (disorder)	Finding site	Lymphocytic tissue structure	false	Inferred relationship	Some	2
Familial hemophagocytic lymphohistiocytosis (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Some	1
Familial hemophagocytic lymphohistiocytosis (disorder)	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some	3
Familial hemophagocytic lymphohistiocytosis (disorder)	Associated morphology	Proliferation	false	Inferred relationship	Some	2
Familial hemophagocytic lymphohistiocytosis (disorder)	Associated morphology	Histiocytosis	false	Inferred relationship	Some	1
Familial hemophagocytic lymphohistiocytosis (disorder)	Associated morphology	White blood cell abnormality (morphologic abnormality)	false	Inferred relationship	Some
Familial hemophagocytic lymphohistiocytosis (disorder)	Is a	Disorder of hematopoietic structure (disorder)	false	Inferred relationship	Some
Familial hemophagocytic lymphohistiocytosis (disorder)	Associated morphology	Lymphoproliferative disorder (morphologic abnormality)	false	Inferred relationship	Some	4
Familial hemophagocytic lymphohistiocytosis (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Familial hemophagocytic lymphohistiocytosis (disorder)	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Familial hemophagocytic lymphohistiocytosis (disorder)	Has definitional manifestation	White blood cell finding	false	Inferred relationship	Some
Familial hemophagocytic lymphohistiocytosis (disorder)	Associated morphology	Histiocytosis	false	Inferred relationship	Some	1
Familial hemophagocytic lymphohistiocytosis (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Some	1
Familial hemophagocytic lymphohistiocytosis (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Familial hemophagocytic lymphohistiocytosis (disorder)	Is a	Familial disease	true	Inferred relationship	Some
Familial hemophagocytic lymphohistiocytosis (disorder)	Finding site	Mononuclear phagocyte system structure (body structure)	false	Inferred relationship	Some	2
Familial hemophagocytic lymphohistiocytosis (disorder)	Is a	Haemophagocytic lymphohistiocytosis	true	Inferred relationship	Some
Familial hemophagocytic lymphohistiocytosis (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	false	Inferred relationship	Some	3
Familial hemophagocytic lymphohistiocytosis (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	false	Inferred relationship	Some	2
Familial hemophagocytic lymphohistiocytosis (disorder)	Associated morphology	histiocytär proliferation	false	Inferred relationship	Some	2
Familial hemophagocytic lymphohistiocytosis (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Familial hemophagocytic lymphohistiocytosis (disorder)	Is a	Hereditary white blood cell disorder (disorder)	true	Inferred relationship	Some
Familial hemophagocytic lymphohistiocytosis (disorder)	Finding site	Mononuclear phagocyte system structure (body structure)	true	Inferred relationship	Some	1
Familial hemophagocytic lymphohistiocytosis (disorder)	Associated morphology	Histiocytic proliferation (morphologic abnormality)	true	Inferred relationship	Some	1
Familial hemophagocytic lymphohistiocytosis (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	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
1766169019	Familial hemophagocytic lymphohistiocytosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1773209019	Familial haemophagocytic lymphohistiocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1774495010	Familial hemophagocytic lymphohistiocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1783629016	Familial haemophagocytic reticulosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1783630014	FHL - Familial haemophagocytic lymphohistiocytosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1783631013	Familial haemophagocytic histiocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1784018010	Familial hemophagocytic reticulosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1784019019	Familial hemophagocytic histiocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1784020013	FHL - Familial hemophagocytic lymphohistiocytosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1786183011	Familial histiocytic reticulosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786184017	Familial erythrophagocytic lymphohistiocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1786185016	FEL - Familial erythrophagocytic lymphohistiocytosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3701453010	Genetic haemophagocytic lymphohistiocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3701454016	Primary haemophagocytic lymphohistiocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3701455015	Genetic hemophagocytic lymphohistiocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3701456019	Primary hemophagocytic lymphohistiocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
374501000052113	familjär hemofagocytisk lymfohistiocytos	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)