717254007: pseudohyperkaliémie familiale (trouble)

• SNOMED CT Concept\constatation clinique\...
• \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\Hereditary red blood cell disorder (disorder)\Familial pseudohyperkalemia (disorder)
• \anémie\anémie causée par une anomalie constitutionnelle des érythrocytes\Stomatocytosis\Familial pseudohyperkalemia (disorder)
• \anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Familial pseudohyperkalemia (disorder)
• \anomalie de la lignée rouge\Erythrocyte enzyme deficiency\Familial pseudohyperkalemia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Familial pseudohyperkalemia (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial pseudohyperkalemia (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Familial pseudohyperkalemia (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anémie\anémie causée par une anomalie constitutionnelle des érythrocytes\Stomatocytosis\Familial pseudohyperkalemia (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Familial pseudohyperkalemia (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Erythrocyte enzyme deficiency\Familial pseudohyperkalemia (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\Familial pseudohyperkalemia (disorder)
• \Disease\affection d'un système corporel\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\Familial pseudohyperkalemia (disorder)
• \Disease\affection d'un système corporel\anomalie de la lignée rouge\Erythrocyte enzyme deficiency\Familial pseudohyperkalemia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308839015	Familial pseudohyperkalemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308840018	Familial pseudohyperkalaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
750851000241117	pseudohyperkaliémie familiale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
877891000172116	pseudohyperkaliémie familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	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	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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