3272007: Stomatocytosis (disorder)

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis

\Disease\Disorder of cellular component of blood (disorder)\Anemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

6528016 Stomatocytosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

764038013 Stomatocytosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4399151000241119 stomatocytose fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Stomatocytosis	Is a	Anaemia due to intrinsic red cell abnormality	true	Inferred relationship	Some
Stomatocytosis	Associated morphology	Stomatocyte	true	Inferred relationship	Some	3
Stomatocytosis	Finding site	Erythrocyte (cell)	false	Inferred relationship	Some
Stomatocytosis	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Stomatocytosis	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Stomatocytosis	Has definitional manifestation	érythropénie	false	Inferred relationship	Some
Stomatocytosis	Has interpretation	Below reference range	false	Inferred relationship	Some	1
Stomatocytosis	Has interpretation	Below reference range	false	Inferred relationship	Some	2
Stomatocytosis	Interprets	Red blood cell count	false	Inferred relationship	Some	1
Stomatocytosis	Interprets	Measurement of total haemoglobin concentration	false	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Acquired stomatocytosis	Is a	True	Stomatocytosis	Inferred relationship	Some
Hereditary stomatocytosis	Is a	True	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	True	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	True	Stomatocytosis	Inferred relationship	Some
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	True	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	Stomatocytosis	Inferred relationship	Some

This concept is not in any reference sets