768556005: Ataxia pancytopenia syndrome (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\Ataxia pancytopenia syndrome
• \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\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal\Decreased blood leucocyte number\Leucopenia\Pancytopenia\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Pancytopenia\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Decreased blood leucocyte number\Leucopenia\Pancytopenia\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Pancytopenia\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Pancytopenia\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Decreased blood leucocyte number\Leucopenia\Pancytopenia\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Pancytopenia\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Pancytopenia\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\White blood cell number - finding\White blood cell count abnormal\Decreased blood leucocyte number\Leucopenia\Pancytopenia\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Pancytopenia\Ataxia pancytopenia syndrome
• \Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Pancytopenia\Ataxia pancytopenia syndrome
• \Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Pancytopenia\Ataxia pancytopenia syndrome
• \Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Ataxia pancytopenia syndrome
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Ataxia pancytopenia syndrome
• \Hereditary disorder of cellular element of blood\Inherited platelet disorder\Ataxia pancytopenia syndrome
• \Anaemia\Pancytopenia\Ataxia pancytopenia syndrome
• \White blood cell disorder\Hereditary white blood cell disorder\Ataxia pancytopenia syndrome
• \White blood cell disorder\Leucopenia\Pancytopenia\Ataxia pancytopenia syndrome
• \Platelet disorder\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Ataxia pancytopenia syndrome
• \Platelet disorder\Inherited platelet disorder\Ataxia pancytopenia syndrome
• \Finding related to coordination / incoordination\Ataxia\...
• \Hereditary ataxia\Ataxia pancytopenia syndrome
• \Cerebellar ataxia\Ataxia pancytopenia syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Ataxia pancytopenia syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Ataxia pancytopenia syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Ataxia pancytopenia syndrome
• \Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Ataxia pancytopenia syndrome
• \Functional finding\Disorder of haemostatic system\Platelet disorder\...
• \Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Ataxia pancytopenia syndrome
• \Inherited platelet disorder\Ataxia pancytopenia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Ataxia pancytopenia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Ataxia pancytopenia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Ataxia pancytopenia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\Ataxia pancytopenia syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Ataxia pancytopenia syndrome
• \Disease\Disorder of immune function\Hereditary disorder of immune system\Hereditary white blood cell disorder\Ataxia pancytopenia syndrome
• \Disease\Disorder of immune function\White blood cell disorder\Hereditary white blood cell disorder\Ataxia pancytopenia syndrome
• \Disease\Disorder of immune function\White blood cell disorder\Leucopenia\Pancytopenia\Ataxia pancytopenia syndrome
• \Disease\Disorder of immune function\Immune thrombocytopenia\Pancytopenia\Ataxia pancytopenia syndrome
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Ataxia pancytopenia syndrome
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Ataxia pancytopenia syndrome
• \Disease\Blood disease\Anaemia\Pancytopenia\Ataxia pancytopenia syndrome
• \Disease\Blood disease\White blood cell disorder\Hereditary white blood cell disorder\Ataxia pancytopenia syndrome
• \Disease\Blood disease\White blood cell disorder\Leucopenia\Pancytopenia\Ataxia pancytopenia syndrome
• \Disease\Blood disease\Platelet disorder\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Ataxia pancytopenia syndrome
• \Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Ataxia pancytopenia syndrome
• \Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Immune thrombocytopenia\Pancytopenia\Ataxia pancytopenia syndrome
• \Disease\Disorder of haemostatic system\Platelet disorder\Inherited platelet disorder\Ataxia pancytopenia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Ataxia pancytopenia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Ataxia pancytopenia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Ataxia pancytopenia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\Ataxia pancytopenia syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Ataxia pancytopenia syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Ataxia pancytopenia syndrome
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Ataxia pancytopenia syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3686039019	Ataxia pancytopenia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3686040017	Ataxia pancytopenia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3686041018	Myelocerebellar disorder	en	Synonym	Active	Case insensitive	SNOMED CT core
3686042013	Rare disease affecting the cerebellum and the bone marrow. Onset and symptoms vary among affected individuals. Atrophy and changes to the cerebellum cause problems including ataxia, dysmetria, clonus, nystagmus and these neurological issues worsen over time. Pancytopenia can result in extreme fatigue, anemia, neutropenia and thrombocytopenia. This disease is also associated with increased risk of blood malignancy particularly myelodysplastic syndrome and acute myeloid leukemia. Caused by inherited gain of function mutations in the SAMD9L gene. Inherited in an autosomal dominant pattern.	en	Definition	Active	Case sensitive	SNOMED CT core
3686043015	Rare disease affecting the cerebellum and the bone marrow. Onset and symptoms vary among affected individuals. Atrophy and changes to the cerebellum cause problems including ataxia, dysmetria, clonus, nystagmus and these neurological issues worsen over time. Pancytopenia can result in extreme fatigue, anaemia, neutropenia and thrombocytopenia. This disease is also associated with increased risk of blood malignancy particularly myelodysplastic syndrome and acute myeloid leukaemia. Caused by inherited gain of function mutations in the SAMD9L gene. Inherited in an autosomal dominant pattern.	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