722005000: Iron-refractory iron deficiency anemia (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Anaemia\Nutritional anaemia\Iron deficiency anemia\Iron-refractory iron deficiency anemia (disorder)
• \Procedure related finding\Evaluation finding\...
• \Measurement finding\Finding of substance level (finding)\Finding of protein level (finding)\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Iron deficiency anemia\Iron-refractory iron deficiency anemia (disorder)
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count below reference range\Iron deficiency anemia\Iron-refractory iron deficiency anemia (disorder)
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Iron deficiency anemia\Iron-refractory iron deficiency anemia (disorder)
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Iron deficiency anemia\Iron-refractory iron deficiency anemia (disorder)
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Iron deficiency anemia\Iron-refractory iron deficiency anemia (disorder)
• \Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Iron deficiency anemia\Iron-refractory iron deficiency anemia (disorder)
• \Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Iron deficiency anemia\Iron-refractory iron deficiency anemia (disorder)
• \Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Iron deficiency anemia\Iron-refractory iron deficiency anemia (disorder)
• \Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Iron deficiency anemia\Iron-refractory iron deficiency anemia (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Iron-refractory iron deficiency anemia (disorder)
• \Disease\Disorder of cellular component of blood\Anaemia\Nutritional anaemia\Iron deficiency anemia\Iron-refractory iron deficiency anemia (disorder)
• \Disease\Nutritional deficiency associated condition (disorder)\Iron deficiency anemia\Iron-refractory iron deficiency anemia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330102019	Iron-refractory iron deficiency anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330103012	Iron-refractory iron deficiency anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330104018	IRIDA syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330105017	IRIDA (iron-refractory iron deficiency anaemia) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330106016	IRIDA (iron-refractory iron deficiency anemia) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402766019	IRIDA (Iron-refractory iron deficiency anemia) syndrome is 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402767011	IRIDA (Iron-refractory iron deficiency anaemia) syndrome is 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330101014	Iron-refractory iron deficiency anemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3330101014	Iron-refractory iron deficiency anemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330102019	Iron-refractory iron deficiency anemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3330102019	Iron-refractory iron deficiency anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330103012	Iron-refractory iron deficiency anaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3330103012	Iron-refractory iron deficiency anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330104018	IRIDA syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330105017	IRIDA (iron-refractory iron deficiency anaemia) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330106016	IRIDA (iron-refractory iron deficiency anemia) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402766019	IRIDA (Iron-refractory iron deficiency anemia) syndrome is 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402767011	IRIDA (Iron-refractory iron deficiency anaemia) syndrome is 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3390061001000118	IRIDA-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6346891000241113	syndrome IRIDA (iron-refractory iron deficiency anemia)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6346901000241114	anémie ferriprive réfractaire au traitement par le fer	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6346891000241113	syndrome IRIDA (iron-refractory iron deficiency anemia)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6346901000241114	anémie ferriprive réfractaire au traitement par le fer	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3390061001000118	IRIDA-Syndrom	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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