14087004: Hereditary stomatocytosis (disorder)

\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary stomatocytosis
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hereditary stomatocytosis
\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia (finding)\Red blood cell count below reference range\Hereditary stomatocytosis
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Hereditary stomatocytosis
\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia (finding)\Red blood cell count below reference range\Hereditary stomatocytosis
\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary stomatocytosis
\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Hereditary stomatocytosis

\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary stomatocytosis
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Hereditary stomatocytosis

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.	Is a	False	Hereditary stomatocytosis	Inferred relationship	Some
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	False	Hereditary stomatocytosis	Inferred relationship	Some
Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.	Is a	False	Hereditary stomatocytosis	Inferred relationship	Some
Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.	Is a	False	Hereditary stomatocytosis	Inferred relationship	Some
A rare hereditary haemolytic anaemia due to a red cell membrane anomaly characterised by fatigue, mild anaemia and pseudohyperkalaemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21.	Is a	True	Hereditary stomatocytosis	Inferred relationship	Some
A rare hemolytic anemia characterized by a combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature. There is evidence the disease is caused by heterozygous mutation in the SLC2A1 gene on chromosome 1p34.	Is a	True	Hereditary stomatocytosis	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
23981010	Hereditary stomatocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
23982015	Hereditary hydrocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
739994017	Hereditary stomatocytosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2928661000005119	hereditær stomatocytose	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)