768556005: Ataxia pancytopenia syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Ataxia pancytopenia syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Ataxia pancytopenia syndrome (disorder)
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\...
• \Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Hereditary disorder of cellular element of blood\Inherited platelet disorder\Ataxia pancytopenia syndrome (disorder)
• \Anaemia\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \White blood cell disorder\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome (disorder)
• \White blood cell disorder\Leucopenia\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Platelet disorder\Inherited platelet disorder\Ataxia pancytopenia syndrome (disorder)
• \Finding of coordination\Ataxia\...
• \Hereditary ataxia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Cerebellar ataxia\Ataxia pancytopenia syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Ataxia pancytopenia syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Ataxia pancytopenia syndrome (disorder)
• \Procedure related finding\Evaluation finding\...
• \Measurement finding\Finding of substance level (finding)\Finding of protein level (finding)\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \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 (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\White cell count abnormal\Decreased blood leukocyte number\Leucopenia\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count below reference range\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Decreased blood leukocyte number\Leucopenia\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \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 (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Decreased blood leukocyte number\Leucopenia\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \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 (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Measurement finding\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Measurement finding\White blood cell number - finding\White cell count abnormal\Decreased blood leukocyte number\Leucopenia\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\Red blood cell count below reference range\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Hemoglobin below reference range (finding)\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Haematopoietic system finding\Hemostatic system finding (finding)\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Functional finding\Disorder of hemostatic system\Platelet disorder\...
• \Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Inherited platelet disorder\Ataxia pancytopenia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Ataxia pancytopenia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Ataxia pancytopenia syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Disease\Disorder of immune function (disorder)\Immune thrombocytopenia\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Ataxia pancytopenia syndrome (disorder)
• \Disease\Disorder of cellular component of blood\Anaemia\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Disease\Disorder of cellular component of blood\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Disease\Disorder of cellular component of blood\White blood cell disorder\Leucopenia\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Disease\Disorder of cellular component of blood\Platelet disorder\Inherited platelet disorder\Ataxia pancytopenia syndrome (disorder)
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Ataxia pancytopenia syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Ataxia pancytopenia syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Ataxia pancytopenia syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Ataxia pancytopenia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Ataxia pancytopenia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3686039019	Ataxia pancytopenia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686040017	Ataxia pancytopenia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686041018	Myelocerebellar disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404737016	A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404738014	A rare genetic disease characterised by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Haematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukaemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3686039019	Ataxia pancytopenia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686040017	Ataxia pancytopenia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686041018	Myelocerebellar disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404737016	A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404738014	A rare genetic disease characterised by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Haematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukaemia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3446401001000112	Myelo-zerebelläres Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5797031000241110	syndrome myélocérébelleux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5797041000241117	syndrome d'ataxie pancytopénique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5797031000241110	syndrome myélocérébelleux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5797041000241117	syndrome d'ataxie pancytopénique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3446401001000112	Myelo-zerebelläres Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start