717254007: Familial pseudohyperkalemia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...

\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Familial pseudohyperkalemia (disorder)

\Anemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis\Familial pseudohyperkalemia (disorder)

\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Familial pseudohyperkalemia (disorder)
\Red blood cell disorder\Erythrocyte enzyme deficiency\Familial pseudohyperkalemia (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Familial pseudohyperkalemia (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial pseudohyperkalemia (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Familial pseudohyperkalemia (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis\Familial pseudohyperkalemia (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Familial pseudohyperkalemia (disorder)
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\Familial pseudohyperkalemia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Familial pseudohyperkalemia (disorder)
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Familial pseudohyperkalemia (disorder)
\Disease\Disorder of body system\Red blood cell disorder\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

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

3876291000052115 familjär pseudohyperkalemi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial pseudohyperkalemia (disorder)	Associated morphology	Stomatocyte	true	Inferred relationship	Some	3
Familial pseudohyperkalemia (disorder)	Is a	Hereditary stomatocytosis	false	Inferred relationship	Some
Familial pseudohyperkalemia (disorder)	Finding site	Erythrocyte	true	Inferred relationship	Some	4
Familial pseudohyperkalemia (disorder)	Has definitional manifestation	erytropeni	false	Inferred relationship	Some
Familial pseudohyperkalemia (disorder)	Has interpretation	Below reference range	false	Inferred relationship	Some	1
Familial pseudohyperkalemia (disorder)	Interprets	Red blood cell count	false	Inferred relationship	Some	1
Familial pseudohyperkalemia (disorder)	Has interpretation	Below reference range	false	Inferred relationship	Some	2
Familial pseudohyperkalemia (disorder)	Interprets	Measurement of total haemoglobin concentration	false	Inferred relationship	Some	2
Familial pseudohyperkalemia (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Familial pseudohyperkalemia (disorder)	Is a	Erythrocyte enzyme deficiency	true	Inferred relationship	Some
Familial pseudohyperkalemia (disorder)	Is a	Stomatocytosis	true	Inferred relationship	Some
Familial pseudohyperkalemia (disorder)	Is a	Hereditary red blood cell disorder (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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
3876291000052115	familjär pseudohyperkalemi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)