722005000: Iron-refractory iron deficiency anemia (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\Iron deficiency anaemia\Iron-refractory iron deficiency anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Iron deficiency anaemia\Iron-refractory iron deficiency anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Iron deficiency anaemia\Iron-refractory iron deficiency anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Iron deficiency anaemia\Iron-refractory iron deficiency anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Iron deficiency anaemia\Iron-refractory iron deficiency anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Iron deficiency anaemia\Iron-refractory iron deficiency anaemia
• \Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Iron deficiency anaemia\Iron-refractory iron deficiency anaemia
• \Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Iron deficiency anaemia\Iron-refractory iron deficiency anaemia
• \Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Iron deficiency anaemia\Iron-refractory iron deficiency anaemia
• \Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Nutritional anaemia\Iron deficiency anaemia\Iron-refractory iron deficiency anaemia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Iron-refractory iron deficiency anaemia
• \Disease\Blood disease\Anaemia\Nutritional anaemia\Iron deficiency anaemia\Iron-refractory iron deficiency anaemia
• \Disease\Nutritional deficiency associated condition\Iron deficiency anaemia\Iron-refractory iron deficiency anaemia

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3330101014	Iron-refractory iron deficiency anemia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3330102019	Iron-refractory iron deficiency anemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3330103012	Iron-refractory iron deficiency anaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3330104018	IRIDA syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3330105017	IRIDA (iron-refractory iron deficiency anaemia) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3330106016	IRIDA (iron-refractory iron deficiency anemia) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3330107013	A rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. 50 patients from 32 families of different ethnic origin have been described to date; however, it is likely that this condition is underdiagnosed. Most IRIDA patients have no major clinical signs, except for pallor, and have normal growth and development. IRIDA syndrome is due to mutations the TMPRSS6 gene encoding Matriptase 2, a transmembrane serine protease that plays an essential role in down-regulating hepcidin, the key regulator of iron homeostasis. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core
3330108015	A rare autosomal recessive iron metabolism disorder characterised by iron deficiency anaemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. 50 patients from 32 families of different ethnic origin have been described to date; however, it is likely that this condition is underdiagnosed. Most IRIDA patients have no major clinical signs, except for pallor, and have normal growth and development. IRIDA syndrome is due to mutations the TMPRSS6 gene encoding Matriptase 2, a transmembrane serine protease that plays an essential role in down-regulating hepcidin, the key regulator of iron homeostasis. Transmission is autosomal recessive.	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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