783142006: pancytopenie door mutaties van IKAROS-'zinc finger'-proteïne 1 (aandoening)

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

\Laboratory test finding (finding)\Hematopoietic system finding\...

\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Pancytopenia due to IKZF1 mutations

\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Pancytopenia due to IKZF1 mutations

\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations

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

\Anemia\Pancytopenia\Pancytopenia due to IKZF1 mutations

\White blood cell disorder\Leucopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations

\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Pancytopenia due to IKZF1 mutations
\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\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Blood leukocyte number below reference range\Leucopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Leucopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Blood leukocyte number below reference range\Leucopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Measurement finding\White blood cell number - finding\White blood cell count outside reference range\Blood leukocyte number below reference range\Leucopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Pancytopenia\Pancytopenia due to IKZF1 mutations

\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations

\Functional finding\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations

\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Pancytopenia due to IKZF1 mutations
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Pancytopenia due to IKZF1 mutations
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Disease\Disorder of immune function (disorder)\Immune thrombocytopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Leucopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3757816012 Pancytopenia due to IKZF1 mutations en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3757817015 Pancytopenia due to IKAROS family zinc finger 1 mutations (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3757818013 Combined immunodeficiency due to IKAROS deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3757819017 Pancytopenia due to IKAROS family zinc finger 1 mutations en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
9067321000146118 pancytopenie door IKZF1-mutaties nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
9373541000146119 pancytopenie door mutaties van IKAROS-'zinc finger'-proteïne 1 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
9373551000146116 pancytopenie door mutaties van IKAROS-'zinc finger'-proteïne 1 (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3757820011 A rare syndrome with combined immunodeficiency with characteristics of a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells. There is evidence the disease is caused by heterozygous mutation in the IKZF1 gene on chromosome 7p12. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pancytopenia due to IKZF1 mutations	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Pancytopenia due to IKZF1 mutations	Is a	Combined immunodeficiency disease	true	Inferred relationship	Some
Pancytopenia due to IKZF1 mutations	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
Pancytopenia due to IKZF1 mutations	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Pancytopenia due to IKZF1 mutations	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Pancytopenia due to IKZF1 mutations	Is a	Pancytopenia	true	Inferred relationship	Some
Pancytopenia due to IKZF1 mutations	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Pancytopenia due to IKZF1 mutations	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Pancytopenia due to IKZF1 mutations	Has interpretation	Abnormal	false	Inferred relationship	Some	6
Pancytopenia due to IKZF1 mutations	Interprets	Red blood cell count	true	Inferred relationship	Some	1
Pancytopenia due to IKZF1 mutations	Interprets	Platelet count	true	Inferred relationship	Some	3
Pancytopenia due to IKZF1 mutations	Interprets	Hemostatic function	false	Inferred relationship	Some	6
Pancytopenia due to IKZF1 mutations	Interprets	White blood cell count	true	Inferred relationship	Some	4
Pancytopenia due to IKZF1 mutations	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	5
Pancytopenia due to IKZF1 mutations	Interprets	Hemostatic function	true	Inferred relationship	Some	6
Pancytopenia due to IKZF1 mutations	Has interpretation	Abnormal	true	Inferred relationship	Some	6

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
3757816012	Pancytopenia due to IKZF1 mutations	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3757817015	Pancytopenia due to IKAROS family zinc finger 1 mutations (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3757818013	Combined immunodeficiency due to IKAROS deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3757819017	Pancytopenia due to IKAROS family zinc finger 1 mutations	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
9067321000146118	pancytopenie door IKZF1-mutaties	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9373541000146119	pancytopenie door mutaties van IKAROS-'zinc finger'-proteïne 1	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9373551000146116	pancytopenie door mutaties van IKAROS-'zinc finger'-proteïne 1 (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3757820011	A rare syndrome with combined immunodeficiency with characteristics of a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells. There is evidence the disease is caused by heterozygous mutation in the IKZF1 gene on chromosome 7p12.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core