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

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

\Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Thrombocytopenic disorder\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal (finding)\Leucopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\RBC count low\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Thrombocytopenic disorder\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\RBC count low\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Leucopenia\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Evaluation finding\Hematopoietic system finding\Thrombocytopenic disorder\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 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\Pancytopenia\Pancytopenia due to IKZF1 mutations
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\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	Reference Sets
3757816012	Pancytopenia due to IKZF1 mutations	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
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	GB English: Preferred (foundation metadata concept)
3757818013	Combined immunodeficiency due to IKAROS deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
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	GB English: Acceptable (foundation 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	GB English: Preferred (foundation metadata concept)
4363211000052113	pancytopeni orsakad av IKZF1-mutationer	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

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

Reference Sets

Description inactivation indicator reference set

GB English

US English

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