1371053002: Autosomal dominant thrombocytopenia due to ETS variant transcription factor 6 gene mutation (disorder)

• 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)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia due to ETV6 gene mutation
• \Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia due to ETV6 gene mutation
• \Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia due to ETV6 gene mutation
• \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\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia due to ETV6 gene mutation
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia due to ETV6 gene mutation
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia due to ETV6 gene mutation
• \Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia due to ETV6 gene mutation
• \Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia due to ETV6 gene mutation
• \Functional finding\Disorder of hemostatic system\Platelet disorder\...
• \Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia due to ETV6 gene mutation
• \Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia due to ETV6 gene mutation
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia due to ETV6 gene mutation
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant thrombocytopenia due to ETV6 gene mutation
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia due to ETV6 gene mutation
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia due to ETV6 gene mutation
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia due to ETV6 gene mutation
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia due to ETV6 gene mutation
• \Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia due to ETV6 gene mutation
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia due to ETV6 gene mutation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Aug 2025. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5471362011	Autosomal dominant thrombocytopenia due to ETV6 gene mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5471363018	Autosomal dominant thrombocytopenia due to ETS variant transcription factor 6 gene mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5471364012	Autosomal dominant thrombocytopenia due to ETS variant transcription factor 6 gene mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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