1172699002: Hereditary thrombocytopenia with early-onset myelofibrosis (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Functional finding\Disorder of haemostatic system\Platelet disorder\...
• \Thrombocytopenia\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Inherited platelet disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Disease\Blood disease\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Disease\Disorder of haemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Hereditary thrombocytopenia with early-onset myelofibrosis

Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4635447014	Hereditary thrombocytopenia with early-onset myelofibrosis	en	Synonym	Active	Case insensitive	SNOMED CT core
4635448016	Hereditary thrombocytopenia with early-onset myelofibrosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4635449012	A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-hematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes and wide nostrils.	en	Definition	Active	Case sensitive	SNOMED CT core
4635450012	A rare syndromic constitutional thrombocytopenia characterised by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-haematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes and wide nostrils.	en	Definition	Active	Case sensitive	SNOMED CT core

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Reference Sets

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