773489008: Hereditary cryohydrocytosis with normal stomatin (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin
• \Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin
• \Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin
• \Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin
• \Anaemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin
• \Red blood cell disorder\Hereditary red blood cell disorder\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin
• \Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin
• \Disease\Blood disease\Anaemia\Anaemia due to intrinsic red cell abnormality\Stomatocytosis\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin
• \Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin
• \Disease\Blood disease\Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin
• \Disease\Disorder of body system\Red blood cell disorder\Erythrocyte enzyme deficiency\Hereditary stomatocytosis\Hereditary cryohydrocytosis with normal stomatin

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3723693015	Hereditary cryohydrocytosis with normal stomatin (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3723694014	Hereditary cryohydrocytosis with normal stomatin	en	Synonym	Active	Case insensitive	SNOMED CT core
3723695010	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.	en	Definition	Active	Case sensitive	SNOMED CT core
3723696011	A rare hereditary hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia 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.	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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