783255002: Hereditary isolated aplastic anemia (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \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)\Hereditary isolated aplastic anemia
• \Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary isolated aplastic anemia
• \Anemia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Hereditary isolated aplastic anemia
• \Anemia\Congenital anemia\Constitutional aplastic anemia\Hereditary isolated aplastic anemia
• \Anemia\Anemia due to decreased red cell production\Aplastic anaemia\Constitutional aplastic anemia\Hereditary isolated aplastic anemia
• \White blood cell disorder\Hereditary white blood cell disorder (disorder)\Hereditary isolated aplastic anemia
• \White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Hereditary isolated aplastic anemia
• \Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Hereditary isolated aplastic anemia
• \Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Hereditary isolated aplastic anemia
• \Platelet disorder\Inherited platelet disorder\Hereditary isolated aplastic 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\Hereditary isolated aplastic 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\Hereditary isolated aplastic 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\Hereditary isolated aplastic 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\Hereditary isolated aplastic 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\Hereditary isolated aplastic 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\Hereditary isolated aplastic 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\Hereditary isolated aplastic 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\Hereditary isolated aplastic 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\Hereditary isolated aplastic 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\Hereditary isolated aplastic 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\Hereditary isolated aplastic 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\Hereditary isolated aplastic 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\Hereditary isolated aplastic anemia
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Constitutional aplastic anemia\Hereditary isolated aplastic 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\Hereditary isolated aplastic 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\Hereditary isolated aplastic 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\Hereditary isolated aplastic 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\Hereditary isolated aplastic 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\Hereditary isolated aplastic 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\Hereditary isolated aplastic anemia
• \Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Constitutional aplastic anemia\Hereditary isolated aplastic 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\Hereditary isolated aplastic 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\Hereditary isolated aplastic 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\Hereditary isolated aplastic 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\Hereditary isolated aplastic 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\Hereditary isolated aplastic 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\Hereditary isolated aplastic 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\Hereditary isolated aplastic anemia
• \Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Hereditary isolated aplastic anemia
• \Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Constitutional aplastic anemia\Hereditary isolated aplastic 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\Hereditary isolated aplastic 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\Hereditary isolated aplastic anemia
• \Functional finding\Disorder of hemostatic system\Platelet disorder\...
• \Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Hereditary isolated aplastic anemia
• \Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Hereditary isolated aplastic anemia
• \Inherited platelet disorder\Hereditary isolated aplastic anemia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Hereditary isolated aplastic anemia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary isolated aplastic anemia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Hereditary isolated aplastic anemia
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary isolated aplastic anemia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Hereditary isolated aplastic anemia
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Hereditary isolated aplastic anemia
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Hereditary isolated aplastic anemia
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Hereditary isolated aplastic anemia
• \Disease\Disorder of immune function (disorder)\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Hereditary isolated aplastic anemia
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Hereditary isolated aplastic anemia
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary isolated aplastic anemia
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Hereditary isolated aplastic anemia
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\Constitutional aplastic anemia\Hereditary isolated aplastic anemia
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia due to decreased red cell production\Aplastic anaemia\Constitutional aplastic anemia\Hereditary isolated aplastic anemia
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Hereditary isolated aplastic anemia
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Hereditary isolated aplastic anemia
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Hereditary isolated aplastic anemia
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Hereditary isolated aplastic anemia
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Hereditary isolated aplastic anemia
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Hereditary isolated aplastic anemia
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anemia\Hereditary isolated aplastic anemia
• \Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary isolated aplastic anemia
• \Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Bone marrow disorder\Aplastic anaemia\Constitutional aplastic anemia\Hereditary isolated aplastic anemia
• \Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Congenital anomaly of the hematopoietic system\Constitutional aplastic anemia\Hereditary isolated aplastic anemia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Hereditary isolated aplastic anemia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary isolated aplastic anemia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Hereditary isolated aplastic anemia
• \Disease\Congenital disease (disorder)\Congenital thrombocytopenia (disorder)\Constitutional aplastic anemia\Hereditary isolated aplastic anemia
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of the hematopoietic system\Constitutional aplastic anemia\Hereditary isolated aplastic anemia
• \Disease\Congenital disease (disorder)\Congenital anemia\Constitutional aplastic anemia\Hereditary isolated aplastic anemia
• \Disease\Developmental disorder\Developmental hereditary disorder\Hereditary isolated aplastic anemia
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of the hematopoietic system\Constitutional aplastic anemia\Hereditary isolated aplastic anemia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3758302013	Hereditary isolated aplastic anemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3758303015	Hereditary isolated aplastic anemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3758304014	Hereditary isolated aplastic anaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3758305010	A rare genetic constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3758306011	A rare genetic constitutional aplastic anaemia disorder characterised by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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