1187252002: Autosomal dominant thrombocytopenia with platelet secretion defect (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)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \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)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \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)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \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)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \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)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Hereditary platelet function disorder\Platelet secretory disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Platelet disorder\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder\Platelet secretory disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Platelet disorder\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Platelet disorder\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Platelet secretory disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \constatation fonctionnelle\Disorder of haemostatic system\Platelet disorder\...
• \trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Qualitative platelet disorder (disorder)\Hereditary platelet function disorder\Platelet secretory disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Platelet secretory disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Platelet secretory disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Platelet secretory disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder\Platelet secretory disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Platelet secretory disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\Disorder of haemostatic system\Platelet disorder\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\Disorder of haemostatic system\Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder\Platelet secretory disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\Disorder of haemostatic system\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\Disorder of haemostatic system\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Platelet secretory disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary platelet function disorder\Platelet secretory disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4672939015	Autosomal dominant thrombocytopenia with platelet secretion defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4672940018	Autosomal dominant thrombocytopenia with platelet secretion defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4672941019	A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma and potential postpartum hemorrhage among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4672942014	A rare isolated constitutional thrombocytopenia characterised by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle haematoma and potential postpartum haemorrhage among others.	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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