6991000146106: familiaire hemofagocytaire lymfohistiocytose type 5 (aandoening)

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)\Familial hemophagocytic lymphohistiocytosis type 5 (disorder)

\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Familial hemophagocytic lymphohistiocytosis (disorder)\Familial hemophagocytic lymphohistiocytosis type 5 (disorder)
\White blood cell disorder\Qualitative abnormality of granulocyte\Combined phagocytic defect\Hemolytic erythrophagocytic syndrome\Haemophagocytic lymphohistiocytosis\Familial hemophagocytic lymphohistiocytosis (disorder)\Familial hemophagocytic lymphohistiocytosis type 5 (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)\Familial hemophagocytic lymphohistiocytosis type 5 (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)\Familial hemophagocytic lymphohistiocytosis type 5 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial hemophagocytic lymphohistiocytosis (disorder)\Familial hemophagocytic lymphohistiocytosis type 5 (disorder)
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Familial hemophagocytic lymphohistiocytosis (disorder)\Familial hemophagocytic lymphohistiocytosis type 5 (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)\Familial hemophagocytic lymphohistiocytosis type 5 (disorder)
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Familial hemophagocytic lymphohistiocytosis (disorder)\Familial hemophagocytic lymphohistiocytosis type 5 (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)\Familial hemophagocytic lymphohistiocytosis type 5 (disorder)
\Disease\Disorder of hematopoietic cell proliferation (disorder)\Histiocytic syndrome\Hemolytic erythrophagocytic syndrome\Haemophagocytic lymphohistiocytosis\Familial hemophagocytic lymphohistiocytosis (disorder)\Familial hemophagocytic lymphohistiocytosis type 5 (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)\Familial hemophagocytic lymphohistiocytosis type 5 (disorder)
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Familial hemophagocytic lymphohistiocytosis (disorder)\Familial hemophagocytic lymphohistiocytosis type 5 (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)\Familial hemophagocytic lymphohistiocytosis type 5 (disorder)
\Disease\Disorder of body system\Hematological disorder (disorder)\Disorder of hematopoietic structure (disorder)\Haemophagocytic lymphohistiocytosis\Familial hemophagocytic lymphohistiocytosis (disorder)\Familial hemophagocytic lymphohistiocytosis type 5 (disorder)
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Combined phagocytic defect\Hemolytic erythrophagocytic syndrome\Haemophagocytic lymphohistiocytosis\Familial hemophagocytic lymphohistiocytosis (disorder)\Familial hemophagocytic lymphohistiocytosis type 5 (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)\Familial hemophagocytic lymphohistiocytosis type 5 (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)\Familial hemophagocytic lymphohistiocytosis type 5 (disorder)
\Disease\Familial disease\Familial hemophagocytic lymphohistiocytosis (disorder)\Familial hemophagocytic lymphohistiocytosis type 5 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2015. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial hemophagocytic lymphohistiocytosis type 5 (disorder)	Is a	Familial hemophagocytic lymphohistiocytosis (disorder)	true	Inferred relationship	Some
Familial hemophagocytic lymphohistiocytosis type 5 (disorder)	Finding site	Hematopoietic system structure	false	Inferred relationship	Some	1
Familial hemophagocytic lymphohistiocytosis type 5 (disorder)	Associated morphology	Lymphoproliferative disorder (morphologic abnormality)	false	Inferred relationship	Some	2
Familial hemophagocytic lymphohistiocytosis type 5 (disorder)	Associated morphology	Histiocytosis	false	Inferred relationship	Some	1
Familial hemophagocytic lymphohistiocytosis type 5 (disorder)	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Familial hemophagocytic lymphohistiocytosis type 5 (disorder)	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Familial hemophagocytic lymphohistiocytosis type 5 (disorder)	Finding site	Mononuclear phagocyte system structure (body structure)	false	Inferred relationship	Some	3
Familial hemophagocytic lymphohistiocytosis type 5 (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	false	Inferred relationship	Some	4
Familial hemophagocytic lymphohistiocytosis type 5 (disorder)	Associated morphology	histiocytose - categorie (afwijkende morfologie)	false	Inferred relationship	Some	1
Familial hemophagocytic lymphohistiocytosis type 5 (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	1
Familial hemophagocytic lymphohistiocytosis type 5 (disorder)	Finding site	Mononuclear phagocyte system structure (body structure)	true	Inferred relationship	Some	1
Familial hemophagocytic lymphohistiocytosis type 5 (disorder)	Associated morphology	Histiocytic proliferation (morphologic abnormality)	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
22791000146117	Familial hemophagocytic lymphohistiocytosis type 5 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
22801000146118	Familial hemophagocytic lymphohistiocytosis type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
22811000146116	Familial haemophagocytic lymphohistiocytosis associated with STXBP2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
27811000146118	familiaire hemofagocytaire lymfohistiocytose type 5	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4188361000146116	familiaire hemofagocytaire lymfohistiocytose type 5 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4188371000146110	FHL type 5	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)