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

• SNOMED CT Concept\constatation clinique\...
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\Platelet count below reference range (finding)\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\Platelet count below reference range (finding)\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Evaluation finding\Hematopoietic system finding\constatation sur le système hémostatique\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Hereditary thrombocytopenia with early-onset myelofibrosis
• \constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\...
• \troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Platelet disorder\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Platelet disorder\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Hereditary thrombocytopenia with early-onset myelofibrosis
• \constatation fonctionnelle\Disorder of haemostatic system\Platelet disorder\...
• \trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Hereditary thrombocytopenia with early-onset myelofibrosis
• \anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Disease\Disorder of haemostatic system\Platelet disorder\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Disease\Disorder of haemostatic system\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Hereditary thrombocytopenia with early-onset myelofibrosis
• \Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Hereditary thrombocytopenia with early-onset myelofibrosis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4635448016	Hereditary thrombocytopenia with early-onset myelofibrosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

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US English

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