783142006: Pancytopenia due to IKAROS family zinc finger 1 mutations (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Leucopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leucocyte number\Leucopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Leucopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Measurement finding\White blood cell number - finding\White blood cell count abnormal\Decreased blood leucocyte number\Leucopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations

\Finding of blood, lymphatics and immune system\Blood disease\...

\Anaemia\Pancytopenia\Pancytopenia due to IKZF1 mutations

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

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

\Functional finding\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\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\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Pancytopenia due to IKZF1 mutations
\Disease\Disorder of immune function\White blood cell disorder\Leucopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Disease\Disorder of immune function\Immune thrombocytopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Disease\Blood disease\Anaemia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Disease\Blood disease\White blood cell disorder\Leucopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Disease\Blood disease\Platelet disorder\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3757816012 Pancytopenia due to IKZF1 mutations en Synonym Active Initial character case insensitive SNOMED CT core

3757817015 Pancytopenia due to IKAROS family zinc finger 1 mutations (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3757818013 Combined immunodeficiency due to IKAROS deficiency en Synonym Active Initial character case insensitive SNOMED CT core

3757819017 Pancytopenia due to IKAROS family zinc finger 1 mutations en Synonym Active Initial character case insensitive SNOMED CT core

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 Case sensitive 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	Haemostatic 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	Abnormal immune process	true	Inferred relationship	Some	5
Pancytopenia due to IKZF1 mutations	Interprets	Haemostatic 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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3757816012	Pancytopenia due to IKZF1 mutations	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3757817015	Pancytopenia due to IKAROS family zinc finger 1 mutations (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3757818013	Combined immunodeficiency due to IKAROS deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3757819017	Pancytopenia due to IKAROS family zinc finger 1 mutations	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core