1187614006: Severe autosomal recessive macrothrombocytopenia (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)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Giant platelet syndrome\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Hereditary platelet function disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Platelet disorder\Inherited platelet disorder\Giant platelet syndrome\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (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\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \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)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \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)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \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)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Functional finding\Disorder of hemostatic system\Platelet disorder\...
• \Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Inherited platelet disorder\Giant platelet syndrome\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Giant platelet syndrome\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Giant platelet syndrome\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Giant platelet syndrome\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Disorder of hemostatic system\Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Giant platelet syndrome\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Giant platelet syndrome\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4674355015	Severe autosomal recessive macrothrombocytopenia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4674356019	Severe autosomal recessive macrothrombocytopenia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399654018	A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous hematoma, and menorrhagia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399655017	A rare isolated hereditary giant platelet disorder characterised by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous haematoma, and menorrhagia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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