1187252002: Autosomal dominant thrombocytopenia with platelet secretion defect (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\...
• \Hereditary disorder of cellular element of blood\Inherited platelet disorder\...
• \Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Hereditary platelet function disorder (disorder)\Platelet secretory disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Platelet secretory disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet secretory disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \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)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \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)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \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)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Measurement finding\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Haematopoietic system finding\Hemostatic system finding (finding)\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Functional finding\Disorder of hemostatic system\Platelet disorder\...
• \Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Platelet secretory disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet secretory disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet secretory disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet secretory disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\Disorder of cellular component of blood\Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Platelet secretory disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\Disorder of cellular component of blood\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\Disorder of cellular component of blood\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet secretory disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\Disorder of hemostatic system\Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Platelet secretory disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet secretory disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Autosomal dominant thrombocytopenia with platelet secretion defect
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function disorder (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
5399604012	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
5399605013	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
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
5399604012	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
5399605013	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
3382381001000114	Autosomal-dominante Thrombozytopenie mit Defekt der Plättchensekretion	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5751971000241112	thrombocytopénie autosomique dominante associée à un défaut de sécrétion plaquettaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5751981000241114	thrombocytopénie autosomique dominante associée à un défaut de la sécrétion de plaquettes	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5751971000241112	thrombocytopénie autosomique dominante associée à un défaut de sécrétion plaquettaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5751981000241114	thrombocytopénie autosomique dominante associée à un défaut de la sécrétion de plaquettes	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3382381001000114	Autosomal-dominante Thrombozytopenie mit Defekt der Plättchensekretion	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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Reference Sets

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

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