30575002: Fanconi-anemie (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Laboratory test finding (finding)\Hematopoietic system finding\...
• \Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\...
• \Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia
• \Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\...
• \Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia
• \Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\...
• \Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Fanconi's anemia
• \Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia
• \Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...
• \Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Fanconi's anemia
• \Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia
• \Anemia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Anemia\Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia
• \Anemia\Anemia due to decreased red cell production\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \White blood cell disorder\Hereditary white blood cell disorder (disorder)\Fanconi's anemia
• \White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Fanconi's anemia
• \Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia
• \Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia
• \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)\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Fanconi's anemia
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Blood leukocyte number below reference range\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \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\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \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\Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Fanconi's anemia
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Blood leukocyte number below reference range\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Fanconi's anemia
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia
• \Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia
• \Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Fanconi's anemia
• \Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia
• \Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Measurement finding\White blood cell number - finding\White blood cell count outside reference range\Blood leukocyte number below reference range\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia
• \Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia
• \Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia
• \Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Fanconi's anemia
• \Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia
• \Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Functional finding\Disorder of hemostatic system\Platelet disorder\...
• \Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Fanconi's anemia
• \Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia
• \Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia
• \Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Fanconi's anemia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Fanconi's anemia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Fanconi's anemia
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Fanconi's anemia
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Fanconi's anemia
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Fanconi's anemia
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Disease\Disorder of immune function (disorder)\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Fanconi's anemia
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of the hematopoietic system\Constitutional aplastic anemia\Fanconi's anemia
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Fanconi's anemia
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\Constitutional aplastic anemia\Fanconi's anemia
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia due to decreased red cell production\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Fanconi's anemia
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Fanconi's anemia
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Fanconi's anemia
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia
• \Disease\Disorder of body system\Hematological disorder (disorder)\Disorder of hematopoietic structure (disorder)\Bone marrow disorder\Aplastic anaemia\Constitutional aplastic anemia\Fanconi's anemia
• \Disease\Disorder of body system\Hematological disorder (disorder)\Disorder of hematopoietic structure (disorder)\Congenital anomaly of the hematopoietic system\Constitutional aplastic anemia\Fanconi's anemia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Fanconi's anemia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Fanconi's anemia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Fanconi's anemia
• \Disease\Developmental disorder\Developmental hereditary disorder\Fanconi's anemia
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of the hematopoietic system\Constitutional aplastic anemia\Fanconi's anemia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
51176012	Fanconi pancytopenia syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
51177015	Fanconi's anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
51178013	Pancytopenia-dysmelia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
484638010	Fanconi's anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
761594015	Fanconi's anemia (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1216339013	Fanconi's hypoplastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1216340010	Fanconi's familial refractory anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1217839012	Fanconi's hypoplastic anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1217840014	Fanconi's familial refractory anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2838906010	Fanconi anemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3781775014	Fanconi anaemia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
344891000146119	Fanconi-anemie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
344901000146118	Fanconi-anemie (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8693711000146110	Erfelijke bloedziekte waarbij te weinig bloedplaatjes en rode en witte bloedcellen worden aangemaakt.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

GB English

US English

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