782880001: Hemoglobinopathy Toms River (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...
• \Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.
• \Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.
• \Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Hereditary hemoglobinopathy (disorder)\Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Hereditary hemoglobinopathy (disorder)\Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.
• \Disease\Disorder of body system\Red blood cell disorder\Hemoglobinopathy\Hereditary hemoglobinopathy (disorder)\Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5408351013	Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5408352018	Haemoglobinopathy Toms River is a rare, genetic haemoglobinopathy disorder, due to a defect in the gamma subunit of the fetal haemoglobin, characterised by neonatal cyanosis, low haemoglobin oxygen saturation levels without arterial hypoxaemia, moderate anaemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756529010	Haemoglobinopathy Toms River	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3756530017	Hemoglobinopathy Toms River (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3756531018	Hemoglobinopathy Toms River	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3756532013	Transient neonatal cyanosis and anemia due to Toms River Hemoglobin	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3756533015	Transient neonatal cyanosis and anaemia due to Toms River Haemoglobin	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6246981000241110	hémoglobinopathie Toms River	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6246991000241112	cyanose et anémie néonatale transitoire due à l'hémoglobine Toms River	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3385121001000117	Hämoglobinopathie Toms River	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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