723623002: Southeast Asian ovalocytosis (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\Southeast Asian ovalocytosis
• \Anaemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis\Southeast Asian ovalocytosis
• \Red blood cell disorder\Hereditary red blood cell disorder\Southeast Asian ovalocytosis
• \Red blood cell disorder\Erythrocyte enzyme deficiency\Southeast Asian ovalocytosis
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Southeast Asian ovalocytosis
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Southeast Asian ovalocytosis
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Southeast Asian ovalocytosis
• \Disease\Blood disease\Anaemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis\Southeast Asian ovalocytosis
• \Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Southeast Asian ovalocytosis
• \Disease\Blood disease\Red blood cell disorder\Erythrocyte enzyme deficiency\Southeast Asian ovalocytosis
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Southeast Asian ovalocytosis
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Southeast Asian ovalocytosis
• \Disease\Disorder of body system\Red blood cell disorder\Erythrocyte enzyme deficiency\Southeast Asian ovalocytosis

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3425307012	Southeast Asian ovalocytosis (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3425308019	Southeast Asian ovalocytosis	en	Synonym	Active	Case sensitive	SNOMED CT core
3425309010	Melanesian ovalocytosis	en	Synonym	Active	Case sensitive	SNOMED CT core
3425310017	Stomatocytic elliptocytosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3425311018	A rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes. Most patients are asymptomatic or occasionally have mild symptoms such as pallor, jaundice, anemia and gallstones. The disease is common in Southeast Asian and Western Pacific countries and can occur at any age. Results from a 27 bp deletion in the SLC4A1 gene, localized on chromosome 17q21.31 (SLC4A1del27 mutation). This gene codes for a band 3 anion transport protein which is the bicarbonate/chloride exchanger in red blood cell membranes and defects in this protein cause membrane rigidity. The disease follows an autosomal dominant pattern of inheritance.	en	Definition	Active	Case sensitive	SNOMED CT core
3425312013	A rare hereditary red cell membrane defect characterised by the presence of oval-shaped erythrocytes. Most patients are asymptomatic or occasionally have mild symptoms such as pallor, jaundice, anaemia and gallstones. The disease is common in Southeast Asian and Western Pacific countries and can occur at any age. Results from a 27 bp deletion in the SLC4A1 gene, localised on chromosome 17q21.31 (SLC4A1del27 mutation). This gene codes for a band 3 anion transport protein which is the bicarbonate/chloride exchanger in red blood cell membranes and defects in this protein cause membrane rigidity. The disease follows an autosomal dominant pattern of inheritance.	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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