725034002: Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Familial platelet syndrome with predisposition to acute myelogenous leukaemia
• \Platelet disorder\Qualitative platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Familial platelet syndrome with predisposition to acute myelogenous leukaemia
• \Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Familial platelet syndrome with predisposition to acute myelogenous leukaemia
• \Functional finding\Disorder of haemostatic system\Platelet disorder\...
• \Qualitative platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Familial platelet syndrome with predisposition to acute myelogenous leukaemia
• \Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Familial platelet syndrome with predisposition to acute myelogenous leukaemia
• \Disease\Genetic disease\Hereditary disease\Hereditary neoplastic syndrome\Familial platelet syndrome with predisposition to acute myelogenous leukaemia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Familial platelet syndrome with predisposition to acute myelogenous leukaemia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial platelet syndrome with predisposition to acute myelogenous leukaemia
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Familial platelet syndrome with predisposition to acute myelogenous leukaemia
• \Disease\Blood disease\Platelet disorder\Qualitative platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Familial platelet syndrome with predisposition to acute myelogenous leukaemia
• \Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Familial platelet syndrome with predisposition to acute myelogenous leukaemia
• \Disease\Disorder of haemostatic system\Platelet disorder\Qualitative platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Familial platelet syndrome with predisposition to acute myelogenous leukaemia
• \Disease\Disorder of haemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Familial platelet syndrome with predisposition to acute myelogenous leukaemia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary platelet function disorder\Platelet storage pool defect\Dense body defect\Familial platelet syndrome with predisposition to acute myelogenous leukaemia
• \Disease\Congenital disease\Platelet storage pool defect\Dense body defect\Familial platelet syndrome with predisposition to acute myelogenous leukaemia

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3437136012	Familial platelet syndrome with predisposition to acute myelogenous leukemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3437137015	Familial platelet syndrome with predisposition to acute myelogenous leukaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3437138013	Familial platelet disorder with associated myeloid malignancy	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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