713388002: GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)

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

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

\Anaemia\GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)

\Platelet disorder\Thrombocytopenic disorder\GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)

\Procedure related finding\Evaluation finding\...

\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\GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count below reference range\GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)
\Measurement finding\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)

\Haematopoietic system finding\Hemostatic system finding (finding)\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)

\Functional finding\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)

\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)
\Disease\Disorder of cellular component of blood\Anaemia\GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)
\Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2016. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)	Is a	X-linked hereditary disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)	Is a	Disorder of cellular component of blood	false	Inferred relationship	Existential restriction modifier (core metadata concept)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)	Has definitional manifestation	Thrombocytopenic disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)	Is a	Thrombocytopenic disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)	Is a	Red blood cell count below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)	Interprets	Platelet count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)	Interprets	Hemostatic function	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)	Is a	Anaemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
3289080018	GATA 1 related cytopenia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3289085011	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3289086012	Dyserythropoietic anaemia and thrombocytopaenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3289088013	X linked macrothrombocytopenia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3289098019	GATA binding protein 1 related thrombocytopaenia with dyserythropoiesis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3289106013	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3289114019	GATA 1 related X linked cytopenia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3289121019	Dyserythropoietic anemia and thrombocytopenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3289080018	GATA 1 related cytopenia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3289085011	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3289086012	Dyserythropoietic anaemia and thrombocytopaenia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3289086012	Dyserythropoietic anaemia and thrombocytopaenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3289088013	X linked macrothrombocytopenia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3289098019	GATA binding protein 1 related thrombocytopaenia with dyserythropoiesis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3289106013	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3289114019	GATA 1 related X linked cytopenia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3289121019	Dyserythropoietic anemia and thrombocytopenia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3289121019	Dyserythropoietic anemia and thrombocytopenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6217681000241112	thrombocytopénie liée à la protéine de liaison GATA1 avec dysérythropoïèse	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6217691000241114	macrothrombocytopénie liée à l'X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6217701000241114	anémie dysérythropoïétique et thrombocytopénie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6217681000241112	thrombocytopénie liée à la protéine de liaison GATA1 avec dysérythropoïèse	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6217691000241114	macrothrombocytopénie liée à l'X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6217701000241114	anémie dysérythropoïétique et thrombocytopénie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module