1142087002: Congenital megaloblastic anemia due to transcobalamin II deficiency (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\Congenital anaemia\Megaloblastic anaemia due to inborn errors of metabolism\Congenital megaloblastic anaemia due to transcobalamin II deficiency
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Megaloblastic anaemia due to inborn errors of metabolism\Congenital megaloblastic anaemia due to transcobalamin II deficiency
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Congenital anaemia\Megaloblastic anaemia due to inborn errors of metabolism\Congenital megaloblastic anaemia due to transcobalamin II deficiency
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Congenital anaemia\Megaloblastic anaemia due to inborn errors of metabolism\Congenital megaloblastic anaemia due to transcobalamin II deficiency
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Congenital anaemia\Megaloblastic anaemia due to inborn errors of metabolism\Congenital megaloblastic anaemia due to transcobalamin II deficiency
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Megaloblastic anaemia due to inborn errors of metabolism\Congenital megaloblastic anaemia due to transcobalamin II deficiency
• \Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Megaloblastic anaemia due to inborn errors of metabolism\Congenital megaloblastic anaemia due to transcobalamin II deficiency
• \Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Megaloblastic anaemia due to inborn errors of metabolism\Congenital megaloblastic anaemia due to transcobalamin II deficiency
• \Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Megaloblastic anaemia due to inborn errors of metabolism\Congenital megaloblastic anaemia due to transcobalamin II deficiency
• \Finding of blood, lymphatics and immune system\Blood disease\Anaemia\...
• \Anaemia due to metabolic disorder\Congenital megaloblastic anaemia due to transcobalamin II deficiency
• \Anaemia related to disturbed DNA synthesis\Megaloblastic anaemia\Megaloblastic anaemia due to inborn errors of metabolism\Congenital megaloblastic anaemia due to transcobalamin II deficiency
• \Macrocytic anaemia\Megaloblastic anaemia\Megaloblastic anaemia due to inborn errors of metabolism\Congenital megaloblastic anaemia due to transcobalamin II deficiency
• \Nutritional anaemia\Congenital megaloblastic anaemia due to transcobalamin II deficiency
• \Congenital anaemia\Megaloblastic anaemia due to inborn errors of metabolism\Congenital megaloblastic anaemia due to transcobalamin II deficiency
• \Disease\Blood disease\Anaemia\Anaemia due to metabolic disorder\Congenital megaloblastic anaemia due to transcobalamin II deficiency
• \Disease\Blood disease\Anaemia\Anaemia related to disturbed DNA synthesis\Megaloblastic anaemia\Megaloblastic anaemia due to inborn errors of metabolism\Congenital megaloblastic anaemia due to transcobalamin II deficiency
• \Disease\Blood disease\Anaemia\Macrocytic anaemia\Megaloblastic anaemia\Megaloblastic anaemia due to inborn errors of metabolism\Congenital megaloblastic anaemia due to transcobalamin II deficiency
• \Disease\Blood disease\Anaemia\Nutritional anaemia\Congenital megaloblastic anaemia due to transcobalamin II deficiency
• \Disease\Blood disease\Anaemia\Congenital anaemia\Megaloblastic anaemia due to inborn errors of metabolism\Congenital megaloblastic anaemia due to transcobalamin II deficiency
• \Disease\Congenital disease\Congenital anaemia\Megaloblastic anaemia due to inborn errors of metabolism\Congenital megaloblastic anaemia due to transcobalamin II deficiency

Status: current, Defined. Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4536588015	Congenital megaloblastic anemia due to transcobalamin II deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4536589011	Congenital megaloblastic anemia due to transcobalamin II deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4536590019	Congenital megaloblastic anaemia due to transcobalamin II deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core

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Reference Sets

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Problem/Diagnosis reference set

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