725034002: Familial platelet syndrome with predisposition to acute myelogenous leukemia (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 platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect (disorder)\Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder)
• \Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect (disorder)\Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder)
• \Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect (disorder)\Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder)
• \Functional finding\Disorder of hemostatic system\Platelet disorder\...
• \Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect (disorder)\Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder)
• \Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect (disorder)\Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder)
• \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 storage pool defect\Dense body defect (disorder)\Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Platelet storage pool defect\Dense body defect (disorder)\Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder)
• \Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect (disorder)\Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder)
• \Disease\Disorder of cellular component of blood\Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect (disorder)\Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder)
• \Disease\Disorder of cellular component of blood\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect (disorder)\Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder)
• \Disease\Disorder of hemostatic system\Platelet disorder\Qualitative platelet disorder (disorder)\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect (disorder)\Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder)
• \Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder (disorder)\Platelet storage pool defect\Dense body defect (disorder)\Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder)
• \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 storage pool defect\Dense body defect (disorder)\Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3437135011	Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437136012	Familial platelet syndrome with predisposition to acute myelogenous leukemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437137015	Familial platelet syndrome with predisposition to acute myelogenous leukaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437138013	Familial platelet disorder with associated myeloid malignancy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403362011	A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403363018	A rare, genetic, constitutional thrombocytopenia disease characterised by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop haematological malignancies, mainly of myeloid origin.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3437135011	Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437136012	Familial platelet syndrome with predisposition to acute myelogenous leukemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437137015	Familial platelet syndrome with predisposition to acute myelogenous leukaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437138013	Familial platelet disorder with associated myeloid malignancy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437139017	Disease that is characterized by moderate thrombocytopenia, abnormal platelet function and the propensity to develop myeloid malignancies, in particular acute myelogenous leukemia. The prevalence is unknown but the disease has been reported in less than 20 families. Causative mutations have been identified in the RUNX1 gene (also known as AML1 or CBFA2; chromosome 21q22.3) in most of the analysed families. The condition is inherited as an autosomal dominant trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3437140015	Disease that is characterised by moderate thrombocytopenia, abnormal platelet function and the propensity to develop myeloid malignancies, in particular acute myelogenous leukaemia. The prevalence is unknown but the disease has been reported in less than 20 families. Causative mutations have been identified in the RUNX1 gene (also known as AML1 or CBFA2; chromosome 21q22.3) in most of the analysed families. The condition is inherited as an autosomal dominant trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403362011	A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403363018	A rare, genetic, constitutional thrombocytopenia disease characterised by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop haematological malignancies, mainly of myeloid origin.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3429041001000110	Familiäre Blutplättchen-Störungen mit assoziierter myeloischer Malignität	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6168231000241110	syndrome plaquettaire familial avec prédisposition à une LMA (leucémie myéloïde aigüe)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6168241000241117	syndrome plaquettaire familial avec prédisposition à une leucémie myéloïde aigüe	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6168231000241110	syndrome plaquettaire familial avec prédisposition à une LMA (leucémie myéloïde aigüe)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6168241000241117	syndrome plaquettaire familial avec prédisposition à une leucémie myéloïde aigüe	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3429041001000110	Familiäre Blutplättchen-Störungen mit assoziierter myeloischer Malignität	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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