722125003: Overhydrated hereditary stomatocytosis (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Overhydrated hereditary stomatocytosis
• \Anaemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis\Overhydrated hereditary stomatocytosis
• \Red blood cell disorder\Hereditary red blood cell disorder\Overhydrated hereditary stomatocytosis
• \Red blood cell disorder\Erythrocyte enzyme deficiency\Overhydrated hereditary stomatocytosis
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Overhydrated hereditary stomatocytosis
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Overhydrated hereditary stomatocytosis
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Overhydrated hereditary stomatocytosis
• \Disease\Blood disease\Anaemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis\Overhydrated hereditary stomatocytosis
• \Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Overhydrated hereditary stomatocytosis
• \Disease\Blood disease\Red blood cell disorder\Erythrocyte enzyme deficiency\Overhydrated hereditary stomatocytosis
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Overhydrated hereditary stomatocytosis
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Overhydrated hereditary stomatocytosis
• \Disease\Disorder of body system\Red blood cell disorder\Erythrocyte enzyme deficiency\Overhydrated hereditary stomatocytosis

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3330810015	Overhydrated hereditary stomatocytosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3330811016	Overhydrated hereditary stomatocytosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3330812011	A disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia. Very rare with only seven cases described in the literature so far. Onset occurs during the neonatal period or infancy with hemolytic anemia that may require occasional blood transfusions. Splenomegaly or hepatosplenomegaly are present. The disease course is marked by the usual complications of hemolytic anemia (biliary lithiasis) and, remarkably, by a strong tendency for iron overload. In the majority of cases, the disease it caused by mutations in the RHAG gene (6p21-qter) encoding the Rh-associated glycoprotein component of the Rh complex.	en	Definition	Active	Case sensitive	SNOMED CT core
3330813018	A disorder of red cell membrane permeability to monovalent cations and is characterised clinically by haemolytic anaemia. Very rare with only seven cases described in the literature so far. Onset occurs during the neonatal period or infancy with haemolytic anaemia that may require occasional blood transfusions. Splenomegaly or hepatosplenomegaly are present. The disease course is marked by the usual complications of haemolytic anaemia (biliary lithiasis) and, remarkably, by a strong tendency for iron overload. In the majority of cases, the disease it caused by mutations in the RHAG gene (6p21-qter) encoding the Rh-associated glycoprotein component of the Rh complex.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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