717254007: Familial pseudohyperkalemia (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Familial pseudohyperkalaemia
• \Anaemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis\Familial pseudohyperkalaemia
• \Red blood cell disorder\Hereditary red blood cell disorder\Familial pseudohyperkalaemia
• \Red blood cell disorder\Erythrocyte enzyme deficiency\Familial pseudohyperkalaemia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Familial pseudohyperkalaemia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial pseudohyperkalaemia
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Familial pseudohyperkalaemia
• \Disease\Blood disease\Anaemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis\Familial pseudohyperkalaemia
• \Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Familial pseudohyperkalaemia
• \Disease\Blood disease\Red blood cell disorder\Erythrocyte enzyme deficiency\Familial pseudohyperkalaemia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Familial pseudohyperkalaemia
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Familial pseudohyperkalaemia
• \Disease\Disorder of body system\Red blood cell disorder\Erythrocyte enzyme deficiency\Familial pseudohyperkalaemia

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3308838011	Familial pseudohyperkalemia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3308839015	Familial pseudohyperkalemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3308840018	Familial pseudohyperkalaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3308841019	An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. Not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. All families identified so far have mutations in the ABCB6 gene (2q36), leading to an inherited abnormality in the movement of ions across the red cell membrane, such that when the red cells are cooled they lose potassium into the plasma. Inherited as an autosomal dominant trait. The prognosis is excellent most patients remain asymptomatic.	en	Definition	Active	Case sensitive	SNOMED CT core
3308842014	An inherited, mild, non-haemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. Not associated with additional haematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. All families identified so far have mutations in the ABCB6 gene (2q36), leading to an inherited abnormality in the movement of ions across the red cell membrane, such that when the red cells are cooled they lose potassium into the plasma. Inherited as an autosomal dominant trait. The prognosis is excellent most patients remain asymptomatic.	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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