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 (disorder)\Anemia\Nutritional anemia\Iron deficiency anemia\Iron-refractory iron deficiency anemia (disorder)

\Procedure related finding\Evaluation finding\...

\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\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 (finding)\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\Hemoglobin level outside reference range (finding)\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 (finding)\Red blood cell count below reference range\Iron deficiency anemia\Iron-refractory iron deficiency anemia (disorder)

\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Iron deficiency anemia\Iron-refractory iron deficiency anemia (disorder)
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\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 (disorder)\Anemia\Nutritional anemia\Iron deficiency anemia\Iron-refractory iron deficiency anemia (disorder)
\Disease\Nutritional deficiency associated condition\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

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

13992421000172114 syndrome IRIDA (iron-refractory iron deficiency anemia) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

13992431000172112 anémie ferriprive réfractaire au traitement par le fer fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4530441000172115 IRIDA-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4530451000172118 ijzerrefractaire ijzerdeficiëntieanemie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Iron-refractory iron deficiency anemia (disorder)	Due to	Iron deficiency	true	Inferred relationship	Some	1
Iron-refractory iron deficiency anemia (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Iron-refractory iron deficiency anemia (disorder)	Is a	Iron deficiency anemia	true	Inferred relationship	Some
Iron-refractory iron deficiency anemia (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Iron-refractory iron deficiency anemia (disorder)	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	3
Iron-refractory iron deficiency anemia (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Iron-refractory iron deficiency anemia (disorder)	Interprets	Red blood cell count	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
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
13992421000172114	syndrome IRIDA (iron-refractory iron deficiency anemia)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
13992431000172112	anémie ferriprive réfractaire au traitement par le fer	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4530441000172115	IRIDA-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4530451000172118	ijzerrefractaire ijzerdeficiëntieanemie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)