783255002: Hereditary isolated aplastic 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\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leucocyte number\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Congenital anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Congenital anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Congenital anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\White blood cell number - finding\White blood cell count abnormal\Decreased blood leucocyte number\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Hereditary isolated aplastic anaemia
• \Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary isolated aplastic anaemia
• \Anaemia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Anaemia\Congenital anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Anaemia\Anaemia due to decreased red cell production\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \White blood cell disorder\Hereditary white blood cell disorder\Hereditary isolated aplastic anaemia
• \White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Platelet disorder\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Platelet disorder\Inherited platelet disorder\Hereditary isolated aplastic anaemia
• \Functional finding\Disorder of haemostatic system\Platelet disorder\...
• \Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Inherited platelet disorder\Hereditary isolated aplastic anaemia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Hereditary isolated aplastic anaemia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary isolated aplastic anaemia
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\Hereditary isolated aplastic anaemia
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary isolated aplastic anaemia
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Hereditary isolated aplastic anaemia
• \Disease\Disorder of immune function\Hereditary disorder of immune system\Hereditary white blood cell disorder\Hereditary isolated aplastic anaemia
• \Disease\Disorder of immune function\White blood cell disorder\Hereditary white blood cell disorder\Hereditary isolated aplastic anaemia
• \Disease\Disorder of immune function\White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Disease\Disorder of immune function\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Hereditary isolated aplastic anaemia
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary isolated aplastic anaemia
• \Disease\Blood disease\Anaemia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Disease\Blood disease\Anaemia\Congenital anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Disease\Blood disease\Anaemia\Anaemia due to decreased red cell production\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Disease\Blood disease\White blood cell disorder\Hereditary white blood cell disorder\Hereditary isolated aplastic anaemia
• \Disease\Blood disease\White blood cell disorder\Leucopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Disease\Blood disease\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Disease\Blood disease\Platelet disorder\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Hereditary isolated aplastic anaemia
• \Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Disease\Disorder of haemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary isolated aplastic anaemia
• \Disease\Disorder of body system\Disorder of haematopoietic structure\Bone marrow disorder\Aplastic anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Disease\Disorder of body system\Disorder of haematopoietic structure\Congenital anomaly of the haematopoietic system\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Hereditary isolated aplastic anaemia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary isolated aplastic anaemia
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\Hereditary isolated aplastic anaemia
• \Disease\Congenital disease\Congenital thrombocytopenia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of the haematopoietic system\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Disease\Congenital disease\Congenital anaemia\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia
• \Disease\Developmental disorder\Developmental hereditary disorder\Hereditary isolated aplastic anaemia
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of the haematopoietic system\Constitutional aplastic anaemia\Hereditary isolated aplastic anaemia

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3758302013	Hereditary isolated aplastic anemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3758303015	Hereditary isolated aplastic anemia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3758304014	Hereditary isolated aplastic anaemia	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start