14087004: Hereditary stomatocytosis (disorder)

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\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\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis
\Disease\Disorder of cellular component of blood\Anaemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis (disorder)\Hereditary stomatocytosis
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary stomatocytosis
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary stomatocytosis
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\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 (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary stomatocytosis	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary stomatocytosis	Is a	Hereditary disorder of haematologic sysem	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary stomatocytosis	Is a	Erythrocyte enzyme deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary stomatocytosis	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Hereditary stomatocytosis	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary stomatocytosis	Associated morphology	Stomatocyte (cell)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Hereditary stomatocytosis	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary stomatocytosis	Has definitional manifestation	érythropénie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary stomatocytosis	Is a	Hereditary red blood cell disorder (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary stomatocytosis	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary stomatocytosis	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary stomatocytosis	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary stomatocytosis	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary stomatocytosis	Is a	Hemoglobin below reference range (finding)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary stomatocytosis	Is a	Red blood cell count below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dehydrated hereditary stomatocytosis (DHS) is a rare haemolytic anaemia characterised by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated haemolysis. Pseudohyperkalaemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.	Is a	False	Hereditary stomatocytosis	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	False	Hereditary stomatocytosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Overhydrated hereditary stomatocytosis (disorder)	Is a	False	Hereditary stomatocytosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Southeast Asian ovalocytosis	Is a	False	Hereditary stomatocytosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary cryohydrocytosis with normal stomatin	Is a	True	Hereditary stomatocytosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary cryohydrocytosis with reduced stomatin	Is a	True	Hereditary stomatocytosis	Inferred relationship	Existential restriction modifier (core metadata concept)

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
23981010	Hereditary stomatocytosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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
3433421001000112	Stomatozytose, hereditäre	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
868661000172115	maladie stomatocytique héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
955511000172110	stomatocytose héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
868661000172115	maladie stomatocytique héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
955511000172110	stomatocytose héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3433421001000112	Stomatozytose, hereditäre	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module