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717254007: 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
5401525019 Familial pseudohyperkalemia (FP) is 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. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401526018 Familial pseudohyperkalemia (FP) is 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. FP is not associated with additional haematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308838011 Familial pseudohyperkalemia (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
5401525019 Familial pseudohyperkalemia (FP) is 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. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401526018 Familial pseudohyperkalemia (FP) is 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. FP is not associated with additional haematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3389691001000114 Pseudohyperkaliämie, familiäre de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
877891000172116 pseudohyperkaliémie familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
877891000172116 pseudohyperkaliémie familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3389691001000114 Pseudohyperkaliämie, familiäre de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Familial pseudohyperkalemia (FP) is 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. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. Associated morphology Stomatocyte (cell) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Familial pseudohyperkalemia (FP) is 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. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. Is a Hereditary stomatocytosis false Inferred relationship Existential restriction modifier (core metadata concept)
Familial pseudohyperkalemia (FP) is 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. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. Finding site Erythrocyte true Inferred relationship Existential restriction modifier (core metadata concept) 4
Familial pseudohyperkalemia (FP) is 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. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. Has definitional manifestation érythropénie false Inferred relationship Existential restriction modifier (core metadata concept)
Familial pseudohyperkalemia (FP) is 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. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. Has interpretation Below reference range false Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial pseudohyperkalemia (FP) is 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. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. Interprets Red blood cell count false Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial pseudohyperkalemia (FP) is 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. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. Has interpretation Below reference range false Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial pseudohyperkalemia (FP) is 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. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. Interprets Measurement of total haemoglobin concentration false Inferred relationship Existential restriction modifier (core metadata concept) 2
Familial pseudohyperkalemia (FP) is 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. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial pseudohyperkalemia (FP) is 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. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. Is a Erythrocyte enzyme deficiency true Inferred relationship Existential restriction modifier (core metadata concept)
Familial pseudohyperkalemia (FP) is 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. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. Is a Stomatocytosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial pseudohyperkalemia (FP) is 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. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. Is a Hereditary red blood cell disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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