1187614006: Severe autosomal recessive macrothrombocytopenia (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)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \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)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \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)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \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)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \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)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Giant platelet syndrome\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Hereditary platelet function disorder\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Platelet disorder\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Platelet disorder\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Platelet disorder\anomalie plaquettaire héréditaire\Giant platelet syndrome\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Platelet disorder\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Severe autosomal recessive macrothrombocytopenia (disorder)
• \constatation fonctionnelle\Disorder of haemostatic system\Platelet disorder\...
• \trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Qualitative platelet disorder (disorder)\Hereditary platelet function disorder\Severe autosomal recessive macrothrombocytopenia (disorder)
• \anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \anomalie plaquettaire héréditaire\Giant platelet syndrome\Severe autosomal recessive macrothrombocytopenia (disorder)
• \anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Giant platelet syndrome\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Giant platelet syndrome\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\anomalie plaquettaire héréditaire\Giant platelet syndrome\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Disorder of haemostatic system\Platelet disorder\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Disorder of haemostatic system\Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Disorder of haemostatic system\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Disorder of haemostatic system\Platelet disorder\anomalie plaquettaire héréditaire\Giant platelet syndrome\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\Disorder of haemostatic system\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Giant platelet syndrome\Severe autosomal recessive macrothrombocytopenia (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary platelet function 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
4674357011	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 manifestations are recurrent bleeding episodes including epistaxis, spontaneous haematoma and menorrhagia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4674358018	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 manifestations are recurrent bleeding episodes including epistaxis, spontaneous hematoma and menorrhagia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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